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1. Pediatric peritoneal dialysis training program and its relationship to peritonitis: a study of the International Pediatric Peritoneal Dialysis Network

Author: Kamath, Nivedita, Borzych-Dużałka, Dagmara, Kaur, Amrit, Neto, Gisela, Arbeiter, Klaus, Yap, Yok Chin, Lahoche, Annie, Eid, Loai, Hooman, Nakysa, Richardson, Troy, Schaefer, Franz, and Warady, Bradley A.
Published: 2023
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2. Relapsing and refractory peritoneal dialysis peritonitis caused by Corynebacterium amycolatum

Author: Habeeb, Shameer M., Yamin, Haneen, Simkova, Eva, Awad, Hazem S., Alhammadi, Entesar A., Eid, Loai A., and Lone, Rubina
Subjects: Continuous ambulatory peritoneal dialysis -- Complications and side effects -- Patient outcomes, Children -- Diseases, Peritoneal dialysis -- Complications and side effects -- Patient outcomes, Actinomycetales infections -- Care and treatment -- Patient outcomes, Health
Abstract: Background Peritonitis is an important complication and cause of morbidity in patients undergoing peritoneal dialysis (PD). Corynebacterium species, often considered skin and mucosal contaminants, are a rare cause of PD-associated peritonitis and have been acknowledged in published guidelines for the diagnosis and treatment of PD peritonitis only over the last decade. Case-Diagnosis/Treatment We present two children with difficult-to-treat episodes of PD peritonitis due to Corynebacterium amycolatum. Episodes were associated with fever, abdominal pain and cloudy dialysate, high dialysate polymorphonuclear leukocyte counts, and elevated serum C-reactive protein and procalcitonin concentrations. Symptoms persisted beyond 5 days in 4 of 5 peritonitis episodes, and peritonitis relapsed despite in vitro sensitivity of the bacterial isolates to guideline-recommended antibiotics. C. amycolatum was cultured from the PD catheter tip despite 4 weeks of intraperitoneal glycopeptide therapy and clinical peritonitis resolution suggestive of efficient biofilm formation. Our systematic literature search identified three previous (adult) case descriptions of C. amycolatum peritonitis, all with repeat episodes by the same organism. The incidence of C. amycolatum as a cause of PD peritonitis has not yet been established but is likely underreported due to challenges in species differentiation. Conclusions C. amycolatum is a rarely identified cause of refractory and/or relapsing PD peritonitis. Species differentiation of non-diphtheriae Corynebacterium isolates is critical, and prolonged antibiotic treatment, preferably with a glycopeptide antibiotic, is recommended, with a low threshold for PD catheter change or removal in case of repeat peritonitis., Author(s): Shameer M. Habeeb [sup.1] , Haneen Yamin [sup.1] , Eva Simkova [sup.1] , Hazem S. Awad [sup.1] , Entesar A. Alhammadi [sup.1] [sup.2] , Loai A. Eid [sup.1] [sup.2] [...]
Published: 2023
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3. Copy Number Variation Analysis Facilitates Identification of Genetic Causation in Patients with Congenital Anomalies of the Kidney and Urinary Tract

Author: Wu, Chen-Han Wilfred, Lim, Tze Y., Wang, Chunyan, Seltzsam, Steve, Zheng, Bixia, Schierbaum, Luca, Schneider, Sophia, Mann, Nina, Connaughton, Dervla M., Nakayama, Makiko, van der Ven, Amelie T., Dai, Rufeng, Kolvenbach, Caroline M., Kause, Franziska, Ottlewski, Isabel, Stajic, Natasa, Soliman, Neveen A., Kari, Jameela A., El Desoky, Sherif, Fathy, Hanan M., Milosevic, Danko, Turudic, Daniel, Al Saffar, Muna, Awad, Hazem S., Eid, Loai A., Ramanathan, Aravind, Senguttuvan, Prabha, Mane, Shrikant M., Lee, Richard S., Bauer, Stuart B., Lu, Weining, Hilger, Alina C., Tasic, Velibor, Shril, Shirlee, Sanna-Cherchi, Simone, and Hildebrandt, Friedhelm
Published: 2022
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4. Phenotypic Variability in Siblings With Autosomal Recessive Polycystic Kidney Disease

Author: Ajiri, Ramona, Burgmaier, Kathrin, Akinci, Nurver, Broekaert, Ilse, Büscher, Anja, Dursun, Ismail, Duzova, Ali, Eid, Loai Akram, Fila, Marc, Gessner, Michaela, Gokce, Ibrahim, Massella, Laura, Mastrangelo, Antonio, Miklaszewska, Monika, Prikhodina, Larisa, Ranchin, Bruno, Ranguelov, Nadejda, Rus, Rina, Sever, Lale, Thumfart, Julia, Weber, Lutz Thorsten, Wühl, Elke, Yilmaz, Alev, Dötsch, Jörg, Schaefer, Franz, and Liebau, Max Christoph
Published: 2022
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5. Expanding the spectrum of novel candidate genes using trio exome sequencing and identification of monogenic cause in 27.5% of 320 families with steroid-resistant nephrotic syndrome

Author: Schneider, Ronen, primary, Shril, Shirlee, additional, Buerger, Florian, additional, Deutsch, Konstantin, additional, Yousef, Kirollos, additional, Frank, Camille N., additional, Onuchic-Whitford, Ana C., additional, Kitzler, Thomas M., additional, Mao, Youying, additional, Klämbt, Verena, additional, Zahoor, Muhammad Y., additional, Lemberg, Katharina, additional, Majmundar, Amar J., additional, Mansour, Bshara, additional, Saida, Ken, additional, Seltzsam, Steve, additional, Kolvenbach, Caroline M., additional, Merz, Lea Maria, additional, Mertens, Nils D., additional, Hermle, Tobias, additional, Mann, Nina, additional, Pantel, Dalia, additional, Halawi, Abdul A., additional, Bao, Aaron, additional, Schierbaum, Luca, additional, Schneider, Sophia, additional, Salmanullah, Daanya, additional, Ben-Dov, Iddo Z., additional, Sagiv, Itamar, additional, Eid, Loai A., additional, Awad, Hazem Subhi H., additional, Al Saffar, Muna, additional, Soliman, Neveen A., additional, Nabhan, Marwa M., additional, Kari, Jameela A., additional, El Desoky, Sherif, additional, Shalaby, Mohamed A., additional, Ooda, Said, additional, Fathy, Hanan M., additional, Mane, Shrikant, additional, Lifton, Richard P., additional, Somers, Michael J.G., additional, and Hildebrandt, Friedhelm, additional
Published: 2024
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6. Refining genotype–phenotype correlations in 304 patients with autosomal recessive polycystic kidney disease and PKHD1 gene variants

Author: Eid, Loai Akram, Arbeiter, Klaus, Godefroid, Nathalie, Lombet, Jacques, De Mul, Aurélie, Feldkoetter, Markus, Zieg, Jakub, Grundmann, Franziska, Galiano, Matthias, Buchholz, Björn, Buescher, Anja, Häffner, Karsten, Gross, Oliver, Patzer, Ludwig, Oh, Jun, Haffner, Dieter, Bernhardt, Wanja, Schaefer, Susanne, Wygoda, Simone, Halbritter, Jan, Derichs, Ute, Klaus, Günter, Lechner, Felix, Ponsel, Sabine, König, Jens, Staude, Hagen, Wurm, Donald, Bald, Martin, Gessner, Michaela, Soliman, Neveen A., Ariceta, Gema, Gonzalez Rodriguez, Juan David, Ojeda, Francisco de la Cerda, Harambat, Jerome, Morin, Denis, Dossier, Claire, Dorval, Guillaume, Shroff, Rukshana, Stabouli, Stella, Hooman, Nakysa, Mencarelli, Francesca, Morello, William, Longo, Germana, Emma, Francesco, Jankauskiene, Augustina, Taranta-Janusz, Katarzyna, Zagozdzon, Ilona, Zachwieja, Katarzyna, Stanczyk, Malgorzata, Bienias, Beata, Litwin, Mieczyslaw, Morawiec-Knysak, Aurelia, Afonso, Alberto Caldas, Dunand, Oliver, Rachisan, Andreea, Miloševski-Lomić, Gordana, Papizh, Svetlana, Rus, Rina, Jilani, Houweyda, Atmis, Bahriye, Duzova, Ali, Soylu, Alper, Candan, Cengiz, Caliskan, Salim, Yilmaz, Alev, Gökce, İbrahim, Akinci, Nurver, Mir, Sevgi, Dursun, Ismail, Tabel, Yilmaz, Nalcacioglu, Hulya, Burgmaier, Kathrin, Brinker, Leonie, Erger, Florian, Beck, Bodo B., Benz, Marcus R., Bergmann, Carsten, Boyer, Olivia, Collard, Laure, Dafinger, Claudia, Fila, Marc, Kowalewska, Claudia, Lange-Sperandio, Bärbel, Massella, Laura, Mastrangelo, Antonio, Mekahli, Djalila, Miklaszewska, Monika, Ortiz-Bruechle, Nadina, Prikhodina, Larisa, Ranchin, Bruno, Ranguelov, Nadejda, Schild, Raphael, Seeman, Tomas, Sever, Lale, Sikora, Przemyslaw, Szczepanska, Maria, Teixeira, Ana, Thumfart, Julia, Uetz, Barbara, Weber, Lutz Thorsten, Wühl, Elke, Zerres, Klaus, Dötsch, Jörg, Schaefer, Franz, and Liebau, Max Christoph
Published: 2021
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7. Recessive Mutations in SYNPO2 as a Candidate of Monogenic Nephrotic Syndrome

Author: Mao, Youying, Schneider, Ronen, van der Ven, Peter F.M., Assent, Marvin, Lohanadan, Keerthika, Klämbt, Verena, Buerger, Florian, Kitzler, Thomas M., Deutsch, Konstantin, Nakayama, Makiko, Majmundar, Amar J., Mann, Nina, Hermle, Tobias, Onuchic-Whitford, Ana C., Zhou, Wei, Margam, Nandini Nagarajan, Duncan, Roy, Marquez, Jonathan, Khokha, Mustafa, Fathy, Hanan M., Kari, Jameela A., El Desoky, Sherif, Eid, Loai A., Awad, Hazem Subhi, Al-Saffar, Muna, Mane, Shrikant, Lifton, Richard P., Fürst, Dieter O., Shril, Shirlee, and Hildebrandt, Friedhelm
Published: 2021
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8. Exome sequencing identifies a likely causative variant in 53% of families with ciliopathy-related features on renal ultrasound after excluding NPHP1 deletions

Author: Deutsch, Konstantin, Klämbt, Verena, Kitzler, Thomas M., Jobst-Schwan, Tilman, Schneider, Ronen, Buerger, Florian, Seltzsam, Steve, El Desoky, Sherif, Kari, Jameela A., Hafeez, Farkhanda, Szczepańska, Maria, Eid, Loai A., Awad, Hazem S., Al-Saffar, Muna, Soliman, Neveen A., Tasic, Velibor, Nicolas-Frank, Camille, Yousef, Kirollos, Schierbaum, Luca M., Schneider, Sophia, Halawi, Abdul, Elmubarak, Izzeldin, Lemberg, Katharina, Shril, Shirlee, Mane, Shrikant M., Rodig, Nancy, and Hildebrandt, Friedhelm
Published: 2024
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9. Exome sequencing identifies a likely causative variant in 53% of families with ciliopathy-related features on renal ultrasound after excluding NPHP1 deletions

Author: Deutsch, Konstantin, primary, Klämbt, Verena, additional, Kitzler, Thomas M., additional, Jobst-Schwan, Tilman, additional, Schneider, Ronen, additional, Buerger, Florian, additional, Seltzsam, Steve, additional, El Desoky, Sherif, additional, Kari, Jameela A., additional, Hafeez, Farkhanda, additional, Szczepańska, Maria, additional, Eid, Loai A., additional, Awad, Hazem S., additional, Al-Saffar, Muna, additional, Soliman, Neveen A., additional, Tasic, Velibor, additional, Nicolas-Frank, Camille, additional, Yousef, Kirollos, additional, Schierbaum, Luca M., additional, Schneider, Sophia, additional, Halawi, Abdul, additional, Elmubarak, Izzeldin, additional, Lemberg, Katharina, additional, Shril, Shirlee, additional, Mane, Shrikant M., additional, Rodig, Nancy, additional, and Hildebrandt, Friedhelm, additional
Published: 2023
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10. Risk Factors for Early Dialysis Dependency in Autosomal Recessive Polycystic Kidney Disease

Author: Ranguelov, Nadejda, Godefroid, Nathalie, Collard, Laure, Lombet, Jacques, Maquet, Julie, Schalk, Gesa, Querfeld, Uwe, Beck, Bodo B., Benzing, Thomas, Buettner, Reinhard, Grundmann, Franziska, Kurschat, Christine, Benz, Kerstin, Tzschoppe, Anja, Buchholz, Björn, Buescher, Rainer, Häffner, Karsten, Pohl, Martin, Gross, Oliver, Krügel, Jenny, Stock, Johanna, Patzer, Ludwig, Oh, Jun, Bernhardt, Wanja, Doyon, Anke, Vinke, Tobias, Sander, Anja, Henn, Michael, Derichs, Ute, Beetz, Rolf, Jeck, Nikola, Lange-Sperandio, Bärbel, Ponsel, Sabine, Kusser, Franziska, Uetz, Barbara, Benz, Marcus, Schmidt, Silke, Huppertz-Kessler, Christina, Kranz, Birgitta, Titieni, Andrea, Wurm, Donald, Leichter, Heinz E., Bald, Martin, Billing, Heiko, Nabhan, Marwa M., Lara, Luis Enrique, Papachristou, Fotios, Emma, Francesco, Cerkauskiene, Rimante, Azukaitis, Karolis, Wasilewska, Anna, Balasz-Chmielewska, Irena, Miklaszewska, Monika, Tkaczyk, Marcin, Sikora, Przemyslaw, Zaniew, Marcin, Niemirska, Ania, Antoniewicz, Jolanta, Lesiak, Justyna, Afonso, Alberto Caldas, Teixeira, Ana, Milosevski-Lomic, Gordana, Paripović, Dusan, Peco-Antic, Amira, Papizh, Svetlana, Bayazit, Aysun Karabay, Anarat, Ali, Soylu, Alper, Kavukcu, Salih, Candan, Cengiz, Caliskan, Salim, Canpolat, Nur, Emre, Sevinc, Alpay, Harika, Akinci, Nurver, Conkar, Secil, Poyrazoglu, Hakan M., Dusunsel, Ruhan, Burgmaier, Kathrin, Kunzmann, Kevin, Ariceta, Gema, Bergmann, Carsten, Buescher, Anja Katrin, Burgmaier, Mathias, Dursun, Ismail, Duzova, Ali, Eid, Loai, Erger, Florian, Feldkoetter, Markus, Galiano, Matthias, Geßner, Michaela, Goebel, Heike, Gokce, Ibrahim, Haffner, Dieter, Hooman, Nakysa, Hoppe, Bernd, Jankauskiene, Augustina, Klaus, Guenter, König, Jens, Litwin, Mieczyslaw, Massella, Laura, Mekahli, Djalila, Melek, Engin, Mir, Sevgi, Pape, Lars, Prikhodina, Larisa, Ranchin, Bruno, Schild, Raphael, Seeman, Tomas, Sever, Lale, Shroff, Rukshana, Soliman, Neveen A., Stabouli, Stella, Stanczyk, Malgorzata, Tabel, Yilmaz, Taranta-Janusz, Katarzyna, Testa, Sara, Thumfart, Julia, Topaloglu, Rezan, Weber, Lutz Thorsten, Wicher, Dorota, Wühl, Elke, Wygoda, Simone, Yilmaz, Alev, Zachwieja, Katarzyna, Zagozdzon, Ilona, Zerres, Klaus, Dötsch, Jörg, Schaefer, Franz, and Liebau, Max Christoph
Published: 2018
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11. RecessiveCHRM5variant as a potential cause of neurogenic bladder

Author: Schneider, Sophia, primary, Schierbaum, Luca, additional, Burger, Wessel A. C., additional, Seltzsam, Steve, additional, Wang, Chunyan, additional, Zheng, Bixia, additional, Wu, Chen‐Han Wilfred, additional, Nakayama, Makiko, additional, Connaughton, Dervla M., additional, Mann, Nina, additional, Shalaby, Mohamed A., additional, Kari, Jameela A., additional, ElDesoky, Sherif, additional, Tasic, Velibor, additional, Eid, Loai A., additional, Shril, Shirlee, additional, Thal, David M., additional, and Hildebrandt, Friedhelm, additional
Published: 2023
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12. Global Variation of Nutritional Status in Children Undergoing Chronic Peritoneal Dialysis: A Longitudinal Study of the International Pediatric Peritoneal Dialysis Network

Author: Schaefer, Franz, Benner, Laura, Borzych-Dużałka, Dagmara, Zaritsky, Joshua, Xu, Hong, Rees, Lesley, Antonio, Zenaida L., Serdaroglu, Erkin, Hooman, Nakysa, Patel, Hiren, Sever, Lale, Vondrak, Karel, Flynn, Joseph, Rébori, Anabella, Wong, William, Hölttä, Tuula, Yildirim, Zeynep Yuruk, Ranchin, Bruno, Grenda, Ryszard, Testa, Sara, Drożdz, Dorota, Szabo, Attila J., Eid, Loai, Basu, Biswanath, Vitkevic, Renata, Wong, Cynthia, Pottoore, Stephen J., Müller, Dominik, Dusunsel, Ruhan, Celedon, Claudia Gonzalez, Fila, Marc, Sartz, Lisa, Sander, Anja, Warady, Bradley A., and International Pediatric Peritoneal Dialysis Network (IPPN) Registry
Published: 2019
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13. Recessive CHRM5 variant as a potential cause of neurogenic bladder.

Author: Schneider, Sophia, Schierbaum, Luca, Burger, Wessel A. C., Seltzsam, Steve, Wang, Chunyan, Zheng, Bixia, Wu, Chen‐Han Wilfred, Nakayama, Makiko, Connaughton, Dervla M., Mann, Nina, Shalaby, Mohamed A., Kari, Jameela A., ElDesoky, Sherif, Tasic, Velibor, Eid, Loai A., Shril, Shirlee, Thal, David M., and Hildebrandt, Friedhelm
Abstract: Neurogenic bladder is caused by disruption of neuronal pathways regulating bladder relaxation and contraction. In severe cases, neurogenic bladder can lead to vesicoureteral reflux, hydroureter, and chronic kidney disease. These complications overlap with manifestations of congenital anomalies of the kidney and urinary tract (CAKUT). To identify novel monogenic causes of neurogenic bladder, we applied exome sequencing (ES) to our cohort of families with CAKUT. By ES, we have identified a homozygous missense variant (p.Gln184Arg) in CHRM5 (cholinergic receptor, muscarinic, 5) in a patient with neurogenic bladder and secondary complications of CAKUT. CHRM5 codes for a seven transmembrane‐spanning G‐protein‐coupled muscarinic acetylcholine receptor. CHRM5 is shown to be expressed in murine and human bladder walls and is reported to cause bladder overactivity in Chrm5 knockout mice. We investigated CHRM5 as a potential novel candidate gene for neurogenic bladder with secondary complications of CAKUT. CHRM5 is similar to the cholinergic bladder neuron receptor CHRNA3, which Mann et al. published as the first monogenic cause of neurogenic bladder. However, functional in vitro studies did not reveal evidence to strengthen the status as a candidate gene. Discovering additional families with CHRM5 variants could help to further assess the genes' candidate status. [ABSTRACT FROM AUTHOR]
Published: 2023
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14. Editorial Commentary

Author: Alhasan, Khalid A, primary and Eid, Loai, additional
Published: 2023
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15. Clinical Factors and Adverse Kidney Outcomes in Children With Antineutrophil Cytoplasmic Antibody–Associated Glomerulonephritis

Author: Marlais, Matko, primary, Wlodkowski, Tanja, additional, Printza, Nikoleta, additional, Kronsteiner, Dorothea, additional, Krisam, Regina, additional, Sauer, Lukas, additional, Aksenova, Marina, additional, Ashoor, Isa, additional, Awan, Atif, additional, Bacchetta, Justine, additional, Balasubramanian, Ramnath, additional, Basu, Biswanath, additional, Bekassy, Zivile, additional, Boyer, Olivia, additional, Chan, Eugene Yu-hin, additional, Csaicsich, Dagmar, additional, Decramer, Stéphane, additional, Dorresteijn, Eiske, additional, Drozynska-Duklas, Magdalena, additional, Eid, Loai Akram, additional, Espinosa, Laura, additional, Ferraris, Verónica, additional, Flögelová, Hana, additional, Forero-Delgadillo, Jessica, additional, Gianviti, Alessandra, additional, Gracchi, Valentina, additional, González, Mercedes López, additional, Hansen, Matthias, additional, Hattori, Motoshi, additional, Hong, Xu, additional, Hooman, Nakysa, additional, Ivanov, Dmytro, additional, Kang, Hee Gyung, additional, Karava, Vasiliki, additional, Kazyra, Ina, additional, Lungu, Adrian, additional, Marks, Stephen, additional, Maxted, Andrew, additional, Moczulska, Anna, additional, Müller, Rebekka, additional, Nastausheva, Tatiana, additional, Parolin, Mattia, additional, Pecoraro, Carmine, additional, Principi, Iliana, additional, Sanchez-Kazi, Cheryl, additional, Saygili, Seha, additional, Schild, Raphael, additional, Shenoy, Mohan, additional, Sinha, Rajiv, additional, Spizzirri, Ana Paula, additional, Stack, Maria, additional, Szczepanska, Maria, additional, Tsygin, Alexey, additional, Tzeng, Julia, additional, Urbonas, Vaidotas, additional, Zapata, Carlos, additional, Zieg, Jakub, additional, Schaefer, Franz, additional, Vivarelli, Marina, additional, and Tullus, Kjell, additional
Published: 2023
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16. A Multicenter Study Evaluating the Discontinuation of Eculizumab Therapy in Children with Atypical Hemolytic Uremic Syndrome

Author: AlZabali, Saeed, primary, AlBatati, Sawsan, additional, Rahim, Khawla, additional, Faqeehi, Hassan, additional, Osman, Abubaker, additional, Bamhraz, Abdulaziz, additional, Saleh, Mohammed A., additional, Kari, Jameela A., additional, Aloufi, Majed, additional, Eid, Loai, additional, Nasser, Haydar, additional, Imam, Abubakr, additional, AlHammadi, Entesar, additional, Alkandari, Omar, additional, Al Riyami, Mohammed, additional, Sethi, Sidharth, additional, Licht, Christoph, additional, Alhasan, Khalid A., additional, and AlAnazi, Abdulkarim, additional
Published: 2022
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17. Relapsing and refractory peritoneal dialysis peritonitis caused by Corynebacterium amycolatum

Author: Habeeb, Shameer M., primary, Yamin, Haneen, additional, Simkova, Eva, additional, Awad, Hazem S., additional, Alhammadi, Entesar A., additional, Eid, Loai A., additional, Lone, Rubina, additional, and Bitzan, Martin, additional
Published: 2022
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18. Clinical factors and adverse kidney outcomes in children with ANCA-Associated Glomerulonephritis

Author: Marlais, Matko, Wlodkowski, Tanja, Printza, Nikoleta, Kronsteiner, Dorothea, Krisam, Regina, Sauer, Lukas, Aksenova, Marina, Ashoor, Isa, Awan, Atif, Bacchetta, Justine, Balasubramanian, Ramnath, Basu, Biswanath, Bekassy, Zivile, Boyer, Olivia, Chan, Eugene Yu-Hin, Csaicsich, Dagmar, Decramer, Stéphane, Dorresteijn, Eiske, Drozynska-Duklas, Magdalena, Eid, Loai Akram, Espinosa, Laura, Ferraris, Verónica, Flögelová, Hana, Forero-Delgadillo, Jessica, Gianviti, Alessandra, Gracchi, Valentina, López González, Mercedes, Hansen, Matthias, Hattori, Motoshi, Hong, Xu, Hooman, Nakysa, Ivanov, Dmytro, Kang, Hee Gyung, Karava, Vasiliki, Kazyra, Ina, Lungu, Adrian, Marks, Stephen, Maxted, Andrew, Moczulska, Anna, Müller, Rebekka, Nastausheva, Tatiana, Parolin, Mattia, Pecoraro, Carmine, Principi, Iliana, Sanchez-Kazi, Cheryl, Saygili, Seha, Schild, Raphael, Shenoy, Mohan, Sinha, Rajiv, Spizzirri, Ana Paula, Stack, Maria, Szczepanska, Maria, Tsygin, Alexey, Tzeng, Julia, Urbonas, Vaidotas, Zapata, Carlos, Zieg, Jakub, Schaefer, Franz, Vivarelli, Marina, and Tullus, Kjell
Published: 2023

19. Early childhood height-adjusted total kidney volume as a risk marker of kidney survival in ARPKD

Author: Nalcacioglu, Hulya, Dunand, Oliver, Mastrangelo, Antonio, Murer, Luisa, Emma, Francesco, Ruzgiene, Dovile, Taranta-Janusz, Katarzyna, Balasz-Chmielewska, Irena, Miklaszewska, Monika, Stanczyk, Malgorzata, Sikora, Przemyslaw, Kowalewska, Claudia, Szczepanska, Maria, Teixeira, Ana, Rachisan, Andreea, Papachristou, Fotios, Paripović, Dušan, Prikhodina, Larisa, Jilani, Houweyda, Bayazit, Aysun Karabay, Soylu, Alper, Candan, Cengiz, Sever, Lale, Emre, Sevinc, Cicek, Neslihan, Akinci, Nurver, Mir, Sevgi, Poyrazoğlu, Hakan M., Tabel, Yilmaz, Mencarelli, Francesca, Burgmaier, Kathrin, Kilian, Samuel, Arbeiter, Klaus, Atmis, Bahriye, Büscher, Anja, Derichs, Ute, Dursun, Ismail, Duzova, Ali, Eid, Loai Akram, Galiano, Matthias, Gessner, Michaela, Gokce, Ibrahim, Haeffner, Karsten, Hooman, Nakysa, Jankauskiene, Augustina, Körber, Friederike, Longo, Germana, Massella, Laura, Mekahli, Djalila, Miloševski-Lomić, Gordana, Rus, Rina, Shroff, Rukshana, Stabouli, Stella, Weber, Lutz T., Wygoda, Simone, Yilmaz, Alev, Zachwieja, Katarzyna, Zagozdzon, Ilona, Dötsch, Jörg, Schaefer, Franz, Liebau, Max Christoph, Potemkina, Alexandra, Ranguelov, Nadejda, Collard, Laure, De Mul, Aurélie, Feldkoetter, Markus, Seeman, Tomas, Zieg, Jakub, Thumfart, Julia, Grundmann, Franziska, Buchholz, Björn, Pape, Lars, Gross, Oliver, Patzer, Ludwig, Schild, Raphael, Haffner, Dieter, Bernhardt, Wanja, Wuehl, Elke, Henn, Michael, Halbritter, Jan, Klaus, Günter, Lechner, Felix, Lange-Sperandio, Bärbel, Uetz, Barbara, Benz, Marcus, König, Jens, Staude, Hagen, Wurm, Donald, Bald, Martin, Soliman, Neveen A., Ariceta, Gema, Rodriguez, Juan David Gonzalez, de la Cerda Ojeda, Francisco, Harambat, Jerome, Ranchin, Bruno, Fila, Marc, Dossier, Claire, Boyer, Olivia, Marlais, Matko, UCL - (SLuc) Département de pédiatrie, Ruzgienė, Dovilė, Burgmaier, Kathrin, Kilian, Samuel, Arbeiter, Klaus, Atmis, Bahriye, Buescher, Anja, Derichs, Ute, Dursun, Ismail, Duzova, Ali, Eid, Loai Akram, Galiano, Matthias, Gessner, Michaela, Gokce, Ibrahim, Haeffner, Karsten, Hooman, Nakysa, Jankauskiene, Augustina, Koerber, Friederike, Longo, Germana, Massella, Laura, Mekahli, Djalila, Milosevski-Lomic, Gordana, Nalcacioglu, Hulya, Rus, Rina, Shroff, Rukshana, Stabouli, Stella, Weber, Lutz T., Wygoda, Simone, Yilmaz, Alev, Zachwieja, Katarzyna, Zagozdzon, Ilona, Doetsch, Joerg, Schaefer, Franz, and Liebau, Max Christoph
Subjects: Liver Cirrhosis, Male, glomerulus filtration rate, Medizin, cell surface receptor, preschool child, DISEASE, Cohort Studies, Chronic kidney disease, Polycystic kidney disease, Medicine, genetics, Longitudinal Studies, Child, pathophysiology, Ultrasonography, Kidney, Multidisciplinary, longitudinal study, organ size, chronic kidney failure, biological marker, cohort analysis, Prognosis, Autosomal Recessive Polycystic Kidney Disease, PKHD1 protein, human, Multidisciplinary Sciences, medicine.anatomical_structure, female, Quartile, Child, Preschool, Cohort, Disease Progression, Science & Technology - Other Topics, Glomerular Filtration Rate, medicine.medical_specialty, kidney, Adolescent, Science, Urology, Renal function, Kidney Volume, Receptors, Cell Surface, Article, Humans, ddc:610, human, Renal Insufficiency, Chronic, Polycystic Kidney, Autosomal Recessive, Paediatric kidney disease, Science & Technology, business.industry, echography, Infant, medicine.disease, mortality, kidney polycystic disease, disease exacerbation, physiology, business, metabolism, Biomarkers, Kidney disease
Abstract: Autosomal recessive polycystic kidney disease (ARPKD) is characterized by bilateral fibrocystic changes resulting in pronounced kidney enlargement. Impairment of kidney function is highly variable and widely available prognostic markers are urgently needed as a base for clinical decision-making and future clinical trials. In this observational study we analyzed the longitudinal development of sonographic kidney measurements in a cohort of 456 ARPKD patients from the international registry study ARegPKD. We furthermore evaluated correlations of sonomorphometric findings and functional kidney disease with the aim to describe the natural disease course and to identify potential prognostic markers. Kidney pole-to-pole (PTP) length and estimated total kidney volume (eTKV) increase with growth throughout childhood and adolescence despite individual variability. Height-adjusted PTP length decreases over time, but such a trend cannot be seen for height-adjusted eTKV (haeTKV) where we even observed a slight mean linear increase of 4.5 ml/m per year during childhood and adolescence for the overall cohort. Patients with two null PKHD1 variants had larger first documented haeTKV values than children with missense variants (median (IQR) haeTKV 793 (450–1098) ml/m in Null/null, 403 (260–538) ml/m in Null/mis, 230 (169–357) ml/m in Mis/mis). In the overall cohort, estimated glomerular filtration rate decreases with increasing haeTKV (median (IQR) haeTKV 210 (150–267) ml/m in CKD stage 1, 472 (266–880) ml/m in stage 5 without kidney replacement therapy). Strikingly, there is a clear correlation between haeTKV in the first eighteen months of life and kidney survival in childhood and adolescence with ten-year kidney survival rates ranging from 20% in patients of the highest to 94% in the lowest quartile. Early childhood haeTKV may become an easily obtainable prognostic marker of kidney disease in ARPKD, e.g. for the identification of patients for clinical studies. © 2021, The Author(s)., ESPN 2014.2; PKD Foundation, PKDF; Bundesministerium für Bildung und Forschung, BMBF: 01GM1515, 01GM1903; Universität zu Köln, UoC; Marga und Walter Boll-Stiftung; Universitätsklinikum Köln, We thank the German Society for Pediatric Nephrology (GPN), the ESCAPE Network, and the European Society for Paediatric Nephrology (ESPN; Working Groups CAKUT and Inherited Renal Diseases) for their support. ML was supported by grants of the GPN, ESPN (Grant ESPN 2014.2), and the German PKD foundation. KB and ML were supported by the Medical Faculty of the University of Cologne (Koeln Fortune program), and the Marga and Walter Boll-Foundation. FS and ML are supported by the German Federal Ministry of Research and Education (BMBF grant 01GM1515 and 01GM1903). This work was generated within the European Reference Network for Rare Kidney Disorders (ERKNet).
Published: 2021

20. An unusual cause of 'pink diaper' in an infant: Answers

Author: Amin, Rasheda, Eid, Loai, Edvardsson, Vidar O., Fairbanks, Lynette, and Moudgil, Asha
Subjects: Acidosis -- Research -- Case studies -- Patient outcomes -- Care and treatment -- Complications and side effects -- Development and progression, Hyperoxaluria -- Research -- Care and treatment, Health
Abstract: Author(s): Rasheda Amin[sup.1] , Loai Eid[sup.2] , Vidar O. Edvardsson[sup.3] [sup.4] , Lynette Fairbanks[sup.5] , Asha Moudgil[sup.1] Author Affiliations: (1) Division of Pediatric Nephrology, Children's National Health System, 111 Michigan [...]
Published: 2016
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21. Phenotypic Variability in Siblings With Autosomal Recessive Polycystic Kidney Disease.

Author: UCL - (SLuc) Département de pédiatrie, Ajiri, Ramona, Burgmaier, Kathrin, Akinci, Nurver, Broekaert, Ilse, Büscher, Anja, Dursun, Ismail, Duzova, Ali, Eid, Loai Akram, Fila, Marc, Gessner, Michaela, Gokce, Ibrahim, Massella, Laura, Mastrangelo, Antonio, Miklaszewska, Monika, Prikhodina, Larisa, Ranchin, Bruno, Ranguelov, Nadejda, Rus, Rina, Sever, Lale, Thumfart, Julia, Weber, Lutz Thorsten, Wühl, Elke, Yilmaz, Alev, Dötsch, Jörg, Schaefer, Franz, Liebau, Max Christoph, UCL - (SLuc) Département de pédiatrie, Ajiri, Ramona, Burgmaier, Kathrin, Akinci, Nurver, Broekaert, Ilse, Büscher, Anja, Dursun, Ismail, Duzova, Ali, Eid, Loai Akram, Fila, Marc, Gessner, Michaela, Gokce, Ibrahim, Massella, Laura, Mastrangelo, Antonio, Miklaszewska, Monika, Prikhodina, Larisa, Ranchin, Bruno, Ranguelov, Nadejda, Rus, Rina, Sever, Lale, Thumfart, Julia, Weber, Lutz Thorsten, Wühl, Elke, Yilmaz, Alev, Dötsch, Jörg, Schaefer, Franz, and Liebau, Max Christoph
Abstract: Autosomal recessive polycystic kidney disease (ARPKD) is a rare monogenic disorder characterized by early onset fibrocystic hepatorenal changes. Previous reports have documented pronounced phenotypic variability even among siblings in terms of patient survival. The underlying causes for this clinical variability are incompletely understood. We present the longitudinal clinical courses of 35 sibling pairs included in the ARPKD registry study ARegPKD, encompassing data on primary manifestation, prenatal and perinatal findings, genetic testing, and family history, including kidney function, liver involvement, and radiological findings. We identified 70 siblings from 35 families with a median age of 0.7 (interquartile range 0.1-6.0) years at initial diagnosis and a median follow-up time of 3.5 (0.2-6.2) years. Data on variants were available for 37 patients from 21 families. There were 8 patients from 7 families who required kidney replacement therapy (KRT) during follow-up. For 44 patients from 26 families, antihypertensive therapy was documented. Furthermore, 37 patients from 24 families had signs of portal hypertension with 9 patients from 6 families having substantial hepatic complications. Interestingly, pronounced variability in the clinical course of functional kidney disease was documented in only 3 sibling pairs. In 17 of 20 families of our cohort of neonatal survivors, siblings had only minor differences of kidney function at a comparable age. In patients surviving the neonatal period, our longitudinal follow-up of 70 ARPKD siblings from 35 families revealed comparable clinical courses of kidney and liver diseases in most families. The data suggest a strong impact of the underlying genotype.
Published: 2022

22. Phenotypic Variability in Siblings With Autosomal Recessive Polycystic Kidney Disease.

Author: UCL - SSS/IREC/PEDI - Pôle de Pédiatrie, UCL - (SLuc) Service de pédiatrie générale, Ajiri, Ramona, Burgmaier, Kathrin, Akinci, Nurver, Broekaert, Ilse, Büscher, Anja, Dursun, Ismail, Duzova, Ali, Eid, Loai Akram, Fila, Marc, Gessner, Michaela, Gokce, Ibrahim, Massella, Laura, Mastrangelo, Antonio, Miklaszewska, Monika, Prikhodina, Larisa, Ranchin, Bruno, Ranguelov, Nadejda, Rus, Rina, Sever, Lale, Thumfart, Julia, Weber, Lutz Thorsten, Wühl, Elke, Yilmaz, Alev, Dötsch, Jörg, Schaefer, Franz, Liebau, Max Christoph, UCL - SSS/IREC/PEDI - Pôle de Pédiatrie, UCL - (SLuc) Service de pédiatrie générale, Ajiri, Ramona, Burgmaier, Kathrin, Akinci, Nurver, Broekaert, Ilse, Büscher, Anja, Dursun, Ismail, Duzova, Ali, Eid, Loai Akram, Fila, Marc, Gessner, Michaela, Gokce, Ibrahim, Massella, Laura, Mastrangelo, Antonio, Miklaszewska, Monika, Prikhodina, Larisa, Ranchin, Bruno, Ranguelov, Nadejda, Rus, Rina, Sever, Lale, Thumfart, Julia, Weber, Lutz Thorsten, Wühl, Elke, Yilmaz, Alev, Dötsch, Jörg, Schaefer, Franz, and Liebau, Max Christoph
Abstract: Autosomal recessive polycystic kidney disease (ARPKD) is a rare monogenic disorder characterized by early onset fibrocystic hepatorenal changes. Previous reports have documented pronounced phenotypic variability even among siblings in terms of patient survival. The underlying causes for this clinical variability are incompletely understood. We present the longitudinal clinical courses of 35 sibling pairs included in the ARPKD registry study ARegPKD, encompassing data on primary manifestation, prenatal and perinatal findings, genetic testing, and family history, including kidney function, liver involvement, and radiological findings. We identified 70 siblings from 35 families with a median age of 0.7 (interquartile range 0.1-6.0) years at initial diagnosis and a median follow-up time of 3.5 (0.2-6.2) years. Data on variants were available for 37 patients from 21 families. There were 8 patients from 7 families who required kidney replacement therapy (KRT) during follow-up. For 44 patients from 26 families, antihypertensive therapy was documented. Furthermore, 37 patients from 24 families had signs of portal hypertension with 9 patients from 6 families having substantial hepatic complications. Interestingly, pronounced variability in the clinical course of functional kidney disease was documented in only 3 sibling pairs. In 17 of 20 families of our cohort of neonatal survivors, siblings had only minor differences of kidney function at a comparable age. In patients surviving the neonatal period, our longitudinal follow-up of 70 ARPKD siblings from 35 families revealed comparable clinical courses of kidney and liver diseases in most families. The data suggest a strong impact of the underlying genotype.
Published: 2022

23. Reverse phenotyping facilitates disease allele calling in exome sequencing of patients with CAKUT

Author: Seltzsam, Steve, primary, Wang, Chunyan, additional, Zheng, Bixia, additional, Mann, Nina, additional, Connaughton, Dervla M., additional, Wu, Chen-Han Wilfred, additional, Schneider, Sophia, additional, Schierbaum, Luca, additional, Kause, Franziska, additional, Kolvenbach, Caroline M., additional, Nakayama, Makiko, additional, Dai, Rufeng, additional, Ottlewski, Isabel, additional, Schneider, Ronen, additional, Deutsch, Konstantin, additional, Buerger, Florian, additional, Klämbt, Verena, additional, Mao, Youying, additional, Onuchic-Whitford, Ana C., additional, Nicolas-Frank, Camille, additional, Yousef, Kirollos, additional, Pantel, Dalia, additional, Lai, Ethan W., additional, Salmanullah, Daanya, additional, Majmundar, Amar J., additional, Bauer, Stuart B., additional, Rodig, Nancy M., additional, Somers, Michael J.G., additional, Traum, Avram Z., additional, Stein, Deborah R., additional, Daga, Ankana, additional, Baum, Michelle A., additional, Daouk, Ghaleb H., additional, Tasic, Velibor, additional, Awad, Hazem S., additional, Eid, Loai A., additional, El Desoky, Sherif, additional, Shalaby, Mohammed, additional, Kari, Jameela A., additional, Fathy, Hanan M., additional, Soliman, Neveen A., additional, Mane, Shrikant M., additional, Shril, Shirlee, additional, Ferguson, Michael A., additional, and Hildebrandt, Friedhelm, additional
Published: 2022
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24. Whole exome sequencing identifies potential candidate genes for spina bifida derived from mouse models

Author: Wang, Chunyan, primary, Seltzsam, Steve, additional, Zheng, Bixia, additional, Wu, Chen‐Han Wilfred, additional, Nicolas‐Frank, Camille, additional, Yousef, Kirollos, additional, Au, Kit Sing, additional, Mann, Nina, additional, Pantel, Dalia, additional, Schneider, Sophia, additional, Schierbaum, Luca, additional, Kitzler, Thomas M., additional, Connaughton, Dervla M., additional, Mao, Youying, additional, Dai, Rufeng, additional, Nakayama, Makiko, additional, Kari, Jameela A., additional, El Desoky, Sherif, additional, Shalaby, Mohammed, additional, Eid, Loai A., additional, Awad, Hazem S., additional, Tasic, Velibor, additional, Mane, Shrikant M., additional, Lifton, Richard P., additional, Baum, Michelle A., additional, Shril, Shirlee, additional, Estrada, Carlos R., additional, and Hildebrandt, Friedhelm, additional
Published: 2022
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25. PHENOTYPIC VARIABILITIES IN SIBLINGS WITH ARPKD

Author: Liebau, Max Christoph, Sever, Lale, Weber, Lutz Thorsten, Wuehl, Elke, Akinci, Nurver, Burgmaier, Kathrin, Ajiri, Ramona, Rus, Rina, Ranguelov, Nadejda, Ranchin, Bruno, Prikhodina, Larisa, Yilmaz, Alev, Doetsch, Joerg, Schaefer, Franz, Thumfahrt, Julia, Miklaszewska, Monika, Mastrangelo, Antonio, Massella, Laura, GÖKCE, İBRAHİM, Gessner, Michaela, Fila, Marc, Eid, Loai Akram, DÜZOVA, ALİ, DURSUN, İSMAİL, and Buscher, Anja
Published: 2021

26. EARLY CHILDHOOD HEIGHT-ADJUSTED TOTAL KIDNEY VOLUME AS A RISK MARKER OF KIDNEY SURVIVAL IN AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE (ARPKD)

Author: Burgmaier, Kathrin, Kilian, Samuel, Arbeiter, Klaus, Atmis, Bahriye, Buescher, Anja, Derichs, Ute, Dursun, Ismail, Duzova, Ali, Eid, Loai, Galiano, Matthias, Gessner, Michaela, Gokce, Ibrahim, Haeffner, Karsten, Hooman, Nakysa, Jankauskiene, Augustina, Koerber, Friederike, Longo, Germana, Massella, Laura, Mekahli, Djalila, Milosevski-Lomic, Gordana, Hulya Nalcacioglu, Rus, Rina, Shroff, Rukshana, Stabouli, Stella, Weber, Lutz, Wygoda, Simone, Yilmaz, Alev, Zachwieja, Katarzyna, Zagozdzon, Ilona, Doetsch, Joerg, Schaefer, Franz, and Liebau, Max Christoph
Published: 2021

27. Treatment and long-term outcome in primary nephrogenic diabetes insipidus

Author: Lopez-Garcia, Sergio C, Downie, Mallory L, Kim, Ji Soo, Boyer, Olivia, Walsh, Stephen B, Nijenhuis, Tom, Papizh, Svetlana, Yadav, Pallavi, Reynolds, Ben C, Decramer, Stéphane, Besouw, Martine, Perelló Carrascosa, Manel, La Scola, Claudio, Trepiccione, Francesco, Ariceta, Gema, Hummel, Aurélie, Dossier, Claire, Sayer, John A, Konrad, Martin, Keijzer-Veen, Mandy G, Awan, Atif, Basu, Biswanath, Chauveau, Dominique, Madariaga, Leire, Koster-Kamphuis, Linda, Furlano, Mónica, Zacchia, Miriam, Marzuillo, Pierluigi, Tse, Yincent, Dursun, Ismail, Pinarbasi, Ayse Seda, Tramma, Despoina, Hoorn, Ewout J, Gokce, Ibrahim, Nicholls, Kathleen, Eid, Loai A, Sartz, Lisa, Riordan, Michael, Hooman, Nakysa, Printza, Nikoleta, Bonny, Olivier, Arango Sancho, Pedro, Schild, Raphael, Sinha, Rajiv, Guarino, Stefano, Martinez Jimenez, Victor, Rodríguez Peña, Lidia, Belge, Hendrica, Devuyst, Olivier, Wlodkowski, Tanja, Emma, Francesco, Levtchenko, Elena, Knoers, Nine V A M, Bichet, Daniel G, Schaefer, Franz, Kleta, Robert, Wasilewska, Anna, Longo, Germana, Espinosa, Laura, Miglinas, Marius, Stroescu, Ramona, Huseynova, Shafa, Stabouli, Stella, Sathyanarayana, Vijaya, Andronesi, Andreea G, Hahn, Deirdre, Sharma, Deepak, Petrosyan, Edita, Frangou, Eleni, Mohebbi, Nilufar, Dinçel, Nida Temizkan, Braconnier, Philippe, Gilbert, Rodney D, Sambo, Adamu, Tasic, Velibor, Henne, Thomas, Bockenhauer, Detlef, UCL - SSS/IREC/NEFR - Pôle de Néphrologie, Lopez-Garcia, Sergio C, Downie, Mallory L, Kim, Ji Soo, Boyer, Olivia, Walsh, Stephen B, Nijenhuis, Tom, Papizh, Svetlana, Yadav, Pallavi, Reynolds, Ben C, Decramer, Stéphane, Besouw, Martine, Perelló Carrascosa, Manel, La Scola, Claudio, Trepiccione, Francesco, Ariceta, Gema, Hummel, Aurélie, Dossier, Claire, Sayer, John A, Konrad, Martin, Keijzer-Veen, Mandy G, Awan, Atif, Basu, Biswanath, Chauveau, Dominique, Madariaga, Leire, Koster-Kamphuis, Linda, Furlano, Mónica, Zacchia, Miriam, Marzuillo, Pierluigi, Tse, Yincent, Dursun, Ismail, Pinarbasi, Ayse Seda, Tramma, Despoina, Hoorn, Ewout J, Gokce, Ibrahim, Nicholls, Kathleen, Eid, Loai A, Sartz, Lisa, Riordan, Michael, Hooman, Nakysa, Printza, Nikoleta, Bonny, Olivier, Arango Sancho, Pedro, Schild, Raphael, Sinha, Rajiv, Guarino, Stefano, Martinez Jimenez, Victor, Rodríguez Peña, Lidia, Belge, Hendrica, Devuyst, Olivier, Wlodkowski, Tanja, Emma, Francesco, Levtchenko, Elena, Knoers, Nine V A M, Bichet, Daniel G, Schaefer, Franz, Kleta, Robert, and Bockenhauer, Detlef
Subjects: Nephrology, Pediatrics, medicine.medical_specialty, endocrine system diseases, 030232 urology & nephrology, 030204 cardiovascular system & hematology, urologic and male genital diseases, 03 medical and health sciences, 0302 clinical medicine, nephrogenic diabetes insipidus, Internal medicine, medicine, AVPR2, Transplantation, business.industry, AQP2, medicine.disease, Nephrogenic diabetes insipidus, Mental health, Obesity, female genital diseases and pregnancy complications, Cohort, flow uropathy, business, Body mass index, chronic kidney disease, Kidney disease
Abstract: BackgroundPrimary nephrogenic diabetes insipidus (NDI) is a rare disorder and little is known about treatment practices and long-term outcome.MethodsPaediatric and adult nephrologists contacted through European professional organizations entered data in an online form.ResultsData were collected on 315 patients (22 countries, male 84%, adults 35%). Mutation testing had been performed in 270 (86%); pathogenic variants were identified in 258 (96%). The median (range) age at diagnosis was 0.6 (0.0–60) years and at last follow-up 14.0 (0.1–70) years. In adults, height was normal with a mean (standard deviation) score of −0.39 (±1.0), yet there was increased prevalence of obesity (body mass index >30 kg/m2; 41% versus 16% European average; P ConclusionThis large NDI cohort shows an overall favourable outcome with normal adult height and only mild to moderate CKD in most. Yet, while full-time employment was similar to the European average, educational achievement was lower, and more than half had urological and/or mental health problems.
Published: 2020

28. A truncating NRIP1 variant in an Arabic family with congenital anomalies of the kidneys and urinary tract

Author: Zheng, Bixia, primary, Wang, Chunyan, additional, Seltzsam, Steve, additional, Schneider, Sophia, additional, Schierbaum, Luca, additional, Wu, Wilfred, additional, Dai, Rufeng, additional, Connaughton, Dervla M., additional, Nakayama, Makiko, additional, Mann, Nina, additional, Bauer, Stuart B., additional, Awad, Hazem S., additional, Eid, Loai A., additional, Tasic, Velibor, additional, Shril, Shirlee, additional, and Hildebrandt, Friedhelm, additional
Published: 2021
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29. Refining genotype–phenotype correlations in 304 patients with autosomal recessive polycystic kidney disease and PKHD1 gene variants

Author: Burgmaier, Kathrin, primary, Brinker, Leonie, additional, Erger, Florian, additional, Beck, Bodo B., additional, Benz, Marcus R., additional, Bergmann, Carsten, additional, Boyer, Olivia, additional, Collard, Laure, additional, Dafinger, Claudia, additional, Fila, Marc, additional, Kowalewska, Claudia, additional, Lange-Sperandio, Bärbel, additional, Massella, Laura, additional, Mastrangelo, Antonio, additional, Mekahli, Djalila, additional, Miklaszewska, Monika, additional, Ortiz-Bruechle, Nadina, additional, Patzer, Ludwig, additional, Prikhodina, Larisa, additional, Ranchin, Bruno, additional, Ranguelov, Nadejda, additional, Schild, Raphael, additional, Seeman, Tomas, additional, Sever, Lale, additional, Sikora, Przemyslaw, additional, Szczepanska, Maria, additional, Teixeira, Ana, additional, Thumfart, Julia, additional, Uetz, Barbara, additional, Weber, Lutz Thorsten, additional, Wühl, Elke, additional, Zerres, Klaus, additional, Dötsch, Jörg, additional, Schaefer, Franz, additional, Liebau, Max Christoph, additional, Eid, Loai Akram, additional, Arbeiter, Klaus, additional, Godefroid, Nathalie, additional, Lombet, Jacques, additional, De Mul, Aurélie, additional, Feldkoetter, Markus, additional, Zieg, Jakub, additional, Grundmann, Franziska, additional, Galiano, Matthias, additional, Buchholz, Björn, additional, Buescher, Anja, additional, Häffner, Karsten, additional, Gross, Oliver, additional, Oh, Jun, additional, Haffner, Dieter, additional, Bernhardt, Wanja, additional, Schaefer, Susanne, additional, Wygoda, Simone, additional, Halbritter, Jan, additional, Derichs, Ute, additional, Klaus, Günter, additional, Lechner, Felix, additional, Ponsel, Sabine, additional, König, Jens, additional, Staude, Hagen, additional, Wurm, Donald, additional, Bald, Martin, additional, Gessner, Michaela, additional, Soliman, Neveen A., additional, Ariceta, Gema, additional, Gonzalez Rodriguez, Juan David, additional, Ojeda, Francisco de la Cerda, additional, Harambat, Jerome, additional, Morin, Denis, additional, Dossier, Claire, additional, Dorval, Guillaume, additional, Shroff, Rukshana, additional, Stabouli, Stella, additional, Hooman, Nakysa, additional, Mencarelli, Francesca, additional, Morello, William, additional, Longo, Germana, additional, Emma, Francesco, additional, Jankauskiene, Augustina, additional, Taranta-Janusz, Katarzyna, additional, Zagozdzon, Ilona, additional, Zachwieja, Katarzyna, additional, Stanczyk, Malgorzata, additional, Bienias, Beata, additional, Litwin, Mieczyslaw, additional, Morawiec-Knysak, Aurelia, additional, Afonso, Alberto Caldas, additional, Dunand, Oliver, additional, Rachisan, Andreea, additional, Miloševski-Lomić, Gordana, additional, Papizh, Svetlana, additional, Rus, Rina, additional, Jilani, Houweyda, additional, Atmis, Bahriye, additional, Duzova, Ali, additional, Soylu, Alper, additional, Candan, Cengiz, additional, Caliskan, Salim, additional, Yilmaz, Alev, additional, Gökce, İbrahim, additional, Akinci, Nurver, additional, Mir, Sevgi, additional, Dursun, Ismail, additional, Tabel, Yilmaz, additional, and Nalcacioglu, Hulya, additional
Published: 2021
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30. MO001THE EUROPEAN DRTA REGISTRY: AN INITIAL DATA ANALYSIS*

Author: Bockenhauer, Detlef, primary, Emma, Francesco, additional, Talhi, Amina, additional, Papizh, Svetlana, additional, Atmis, Bahriye, additional, Homan, Nakisa, additional, Aksu, Bagdagul, additional, Santos, Fernando, additional, Boyer, Olivia, additional, Fila, Marc, additional, Bayrakci, Umut Selda, additional, Ouda Eid, Loai Akram, additional, VanDyck, Maria, additional, Moguel, Carlos, additional, Yüksel, Selçuk, additional, Canpolat, Nur, additional, Schaefer, Franz, additional, Oh, Jun, additional, Liebau, Max, additional, Ariceta Iraola, Maria Gema, additional, Vargas-Poussou, Rosa, additional, Levtchenko, Elena, additional, Lopez-Garcia, Sergio Camilo, additional, Wlodkowski, Tanja, additional, and Topologlu, Rezan, additional
Published: 2021
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31. Early childhood height-adjusted total kidney volume as a risk marker of kidney survival in ARPKD

Author: Burgmaier, Kathrin, Kilian, Samuel, Arbeiter, Klaus, Atmis, Bahriye, Buescher, Anja, Derichs, Ute, Dursun, Ismail, Duzova, Ali, Eid, Loai Akram, Galiano, Matthias, Gessner, Michaela, Gokce, Ibrahim, Haeffner, Karsten, Hooman, Nakysa, Jankauskiene, Augustina, Koerber, Friederike, Longo, Germana, Massella, Laura, Mekahli, Djalila, Milosevski-Lomic, Gordana, Nalcacioglu, Hulya, Rus, Rina, Shroff, Rukshana, Stabouli, Stella, Weber, Lutz T., Wygoda, Simone, Yilmaz, Alev, Zachwieja, Katarzyna, Zagozdzon, Ilona, Doetsch, Joerg, Schaefer, Franz, Liebau, Max Christoph, Burgmaier, Kathrin, Kilian, Samuel, Arbeiter, Klaus, Atmis, Bahriye, Buescher, Anja, Derichs, Ute, Dursun, Ismail, Duzova, Ali, Eid, Loai Akram, Galiano, Matthias, Gessner, Michaela, Gokce, Ibrahim, Haeffner, Karsten, Hooman, Nakysa, Jankauskiene, Augustina, Koerber, Friederike, Longo, Germana, Massella, Laura, Mekahli, Djalila, Milosevski-Lomic, Gordana, Nalcacioglu, Hulya, Rus, Rina, Shroff, Rukshana, Stabouli, Stella, Weber, Lutz T., Wygoda, Simone, Yilmaz, Alev, Zachwieja, Katarzyna, Zagozdzon, Ilona, Doetsch, Joerg, Schaefer, Franz, and Liebau, Max Christoph
Abstract: Autosomal recessive polycystic kidney disease (ARPKD) is characterized by bilateral fibrocystic changes resulting in pronounced kidney enlargement. Impairment of kidney function is highly variable and widely available prognostic markers are urgently needed as a base for clinical decision-making and future clinical trials. In this observational study we analyzed the longitudinal development of sonographic kidney measurements in a cohort of 456 ARPKD patients from the international registry study ARegPKD. We furthermore evaluated correlations of sonomorphometric findings and functional kidney disease with the aim to describe the natural disease course and to identify potential prognostic markers. Kidney pole-to-pole (PTP) length and estimated total kidney volume (eTKV) increase with growth throughout childhood and adolescence despite individual variability. Height-adjusted PTP length decreases over time, but such a trend cannot be seen for height-adjusted eTKV (haeTKV) where we even observed a slight mean linear increase of 4.5 ml/m per year during childhood and adolescence for the overall cohort. Patients with two null PKHD1 variants had larger first documented haeTKV values than children with missense variants (median (IQR) haeTKV 793 (450-1098) ml/m in Null/null, 403 (260-538) ml/m in Null/mis, 230 (169-357) ml/m in Mis/mis). In the overall cohort, estimated glomerular filtration rate decreases with increasing haeTKV (median (IQR) haeTKV 210 (150-267) ml/m in CKD stage 1, 472 (266-880) ml/m in stage 5 without kidney replacement therapy). Strikingly, there is a clear correlation between haeTKV in the first eighteen months of life and kidney survival in childhood and adolescence with ten-year kidney survival rates ranging from 20% in patients of the highest to 94% in the lowest quartile. Early childhood haeTKV may become an easily obtainable prognostic marker of kidney disease in ARPKD, e.g. for the identification of patients for clinical studies.
Published: 2021

32. Early childhood height-adjusted total kidney volume as a risk marker of kidney survival in ARPKD

Author: UCL - (SLuc) Département de pédiatrie, Nalcacioglu, Hulya, Dunand, Oliver, Mastrangelo, Antonio, Murer, Luisa, Emma, Francesco, Ruzgiene, Dovile, Taranta-Janusz, Katarzyna, Balasz-Chmielewska, Irena, Miklaszewska, Monika, Stanczyk, Malgorzata, Sikora, Przemyslaw, Kowalewska, Claudia, Szczepanska, Maria, Teixeira, Ana, Rachisan, Andreea, Papachristou, Fotios, Paripović, Dušan, Prikhodina, Larisa, Jilani, Houweyda, Bayazit, Aysun Karabay, Soylu, Alper, Candan, Cengiz, Sever, Lale, Emre, Sevinc, Cicek, Neslihan, Akinci, Nurver, Mir, Sevgi, Poyrazoğlu, Hakan M., Tabel, Yilmaz, Mencarelli, Francesca, Burgmaier, Kathrin, Kilian, Samuel, Arbeiter, Klaus, Atmis, Bahriye, Büscher, Anja, Derichs, Ute, Dursun, Ismail, Duzova, Ali, Eid, Loai Akram, Galiano, Matthias, Gessner, Michaela, Gokce, Ibrahim, Haeffner, Karsten, Hooman, Nakysa, Jankauskiene, Augustina, Körber, Friederike, Longo, Germana, Massella, Laura, Mekahli, Djalila, Miloševski-Lomić, Gordana, Rus, Rina, Shroff, Rukshana, Stabouli, Stella, Weber, Lutz T., Wygoda, Simone, Yilmaz, Alev, Zachwieja, Katarzyna, Zagozdzon, Ilona, Dötsch, Jörg, Schaefer, Franz, Liebau, Max Christoph, Potemkina, Alexandra, Ranguelov, Nadejda, Collard, Laure, De Mul, Aurélie, Feldkoetter, Markus, Seeman, Tomas, Zieg, Jakub, Thumfart, Julia, Grundmann, Franziska, Buchholz, Björn, Pape, Lars, Gross, Oliver, Patzer, Ludwig, Schild, Raphael, Haffner, Dieter, Bernhardt, Wanja, Wuehl, Elke, Henn, Michael, Halbritter, Jan, Klaus, Günter, Lechner, Felix, Lange-Sperandio, Bärbel, Uetz, Barbara, Benz, Marcus, König, Jens, Staude, Hagen, Wurm, Donald, Bald, Martin, Soliman, Neveen A., Ariceta, Gema, Rodriguez, Juan David Gonzalez, de la Cerda Ojeda, Francisco, Harambat, Jerome, Ranchin, Bruno, Fila, Marc, Dossier, Claire, Boyer, Olivia, Marlais, Matko, UCL - (SLuc) Département de pédiatrie, Nalcacioglu, Hulya, Dunand, Oliver, Mastrangelo, Antonio, Murer, Luisa, Emma, Francesco, Ruzgiene, Dovile, Taranta-Janusz, Katarzyna, Balasz-Chmielewska, Irena, Miklaszewska, Monika, Stanczyk, Malgorzata, Sikora, Przemyslaw, Kowalewska, Claudia, Szczepanska, Maria, Teixeira, Ana, Rachisan, Andreea, Papachristou, Fotios, Paripović, Dušan, Prikhodina, Larisa, Jilani, Houweyda, Bayazit, Aysun Karabay, Soylu, Alper, Candan, Cengiz, Sever, Lale, Emre, Sevinc, Cicek, Neslihan, Akinci, Nurver, Mir, Sevgi, Poyrazoğlu, Hakan M., Tabel, Yilmaz, Mencarelli, Francesca, Burgmaier, Kathrin, Kilian, Samuel, Arbeiter, Klaus, Atmis, Bahriye, Büscher, Anja, Derichs, Ute, Dursun, Ismail, Duzova, Ali, Eid, Loai Akram, Galiano, Matthias, Gessner, Michaela, Gokce, Ibrahim, Haeffner, Karsten, Hooman, Nakysa, Jankauskiene, Augustina, Körber, Friederike, Longo, Germana, Massella, Laura, Mekahli, Djalila, Miloševski-Lomić, Gordana, Rus, Rina, Shroff, Rukshana, Stabouli, Stella, Weber, Lutz T., Wygoda, Simone, Yilmaz, Alev, Zachwieja, Katarzyna, Zagozdzon, Ilona, Dötsch, Jörg, Schaefer, Franz, Liebau, Max Christoph, Potemkina, Alexandra, Ranguelov, Nadejda, Collard, Laure, De Mul, Aurélie, Feldkoetter, Markus, Seeman, Tomas, Zieg, Jakub, Thumfart, Julia, Grundmann, Franziska, Buchholz, Björn, Pape, Lars, Gross, Oliver, Patzer, Ludwig, Schild, Raphael, Haffner, Dieter, Bernhardt, Wanja, Wuehl, Elke, Henn, Michael, Halbritter, Jan, Klaus, Günter, Lechner, Felix, Lange-Sperandio, Bärbel, Uetz, Barbara, Benz, Marcus, König, Jens, Staude, Hagen, Wurm, Donald, Bald, Martin, Soliman, Neveen A., Ariceta, Gema, Rodriguez, Juan David Gonzalez, de la Cerda Ojeda, Francisco, Harambat, Jerome, Ranchin, Bruno, Fila, Marc, Dossier, Claire, Boyer, Olivia, and Marlais, Matko
Abstract: Autosomal recessive polycystic kidney disease (ARPKD) is characterized by bilateral fibrocystic changes resulting in pronounced kidney enlargement. Impairment of kidney function is highly variable and widely available prognostic markers are urgently needed as a base for clinical decision-making and future clinical trials. In this observational study we analyzed the longitudinal development of sonographic kidney measurements in a cohort of 456 ARPKD patients from the international registry study ARegPKD. We furthermore evaluated correlations of sonomorphometric findings and functional kidney disease with the aim to describe the natural disease course and to identify potential prognostic markers. Kidney pole-to-pole (PTP) length and estimated total kidney volume (eTKV) increase with growth throughout childhood and adolescence despite individual variability. Height-adjusted PTP length decreases over time, but such a trend cannot be seen for height-adjusted eTKV (haeTKV) where we even observed a slight mean linear increase of 4.5 ml/m per year during childhood and adolescence for the overall cohort. Patients with two null PKHD1 variants had larger first documented haeTKV values than children with missense variants (median (IQR) haeTKV 793 (450–1098) ml/m in Null/null, 403 (260–538) ml/m in Null/mis, 230 (169–357) ml/m in Mis/mis). In the overall cohort, estimated glomerular filtration rate decreases with increasing haeTKV (median (IQR) haeTKV 210 (150–267) ml/m in CKD stage 1, 472 (266–880) ml/m in stage 5 without kidney replacement therapy). Strikingly, there is a clear correlation between haeTKV in the first eighteen months of life and kidney survival in childhood and adolescence with ten-year kidney survival rates ranging from 20% in patients of the highest to 94% in the lowest quartile. Early childhood haeTKV may become an easily obtainable prognostic marker of kidney disease in ARPKD, e.g. for the identification of patients for clinical studies.
Published: 2021

33. Late acute rejection: Incidence, risk factors, and effect on graft survival and function

Author: Eid, Loai, Tuchman, Shamir, and Moudgil, Asha
Published: 2014
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34. Severe neurological outcomes after very early bilateral nephrectomies in patients with autosomal recessive polycystic kidney disease (ARPKD)

Author: Häffner, Karsten, Gross, Oliver, Bernhardt, Wanja, Doyon, Anke, Henn, Michael, Halbritter, Jan, Derichs, Ute, Klaus, Günter, Lange-Sperandio, Bärbel, Uetz, Barbara, Benz, Marcus, Titieni, Andrea, Staude, Hagen, Leichter, Heinz E., Soliman, Neveen A., Lara, Luis Enrique, de la Cerda Ojeda, Francisco, Harambat, Jerome, Ranchin, Bruno, Fila, Marc, Dossier, Claire, Boyer, Olivia, Stabouli, Stella, Hooman, Nakysa, Mencarelli, Francesca, Morello, William, Longo, Germana, Emma, Francesco, Ruzgiene, Dovile, Wasilewska, Anna, Balasz-Chmielewska, Irena, Miklaszewska, Monika, Stanczyk, Malgorzata, Sikora, Przemyslaw, Litwin, Mieczyslaw, Morawiec-Knysak, Aurelia, Teixeira, Ana, Milosevski-Lomic, Gordana, Prikhodina, Larisa, Rus, Rina, Jilani, Houweyda, Melek, Engin, Duzova, Ali, Candan, Cengiz, Sever, Lale, Ranguelov, Nadejda, Yilmaz, Alev, Cicek, Neslihan, Akinci, Nurver, Mir, Sevgi, Dursun, Ismail, Tabel, Yilmaz, Nalcacioglu, Hulya, Shroff, Rukshana, Marlais, Matko, Soylu, Alper, Arbeiter, Klaus, Eid, Loai Akram, Liebau, Max Christoph, Schaefer, Franz, Oh, Jun, Dötsch, Jörg, Zagozdzon, Ilona, Wygoda, Simone, Wurm, Donald, Wühl, Elke, Weber, Lutz Thorsten, Tkaczyk, Marcin, Burgmaier, Kathrin, Ariceta, Gema, Bald, Martin, Buescher, Anja Katrin, Burgmaier, Mathias, Erger, Florian, Gessner, Michaela, GÖKCE, İBRAHİM, König, Jens, Kowalewska, Claudia, Massella, Laura, Mastrangelo, Antonio, Mekahli, Djalila, Pape, Lars, Patzer, Ludwig, Potemkina, Alexandra, Schalk, Gesa, Schild, Raphael, Szczepanska, Maria, Taranta-Janusz, Katarzyna, Collard, Laure, De Mul, Aurélie, Feldkoetter, Markus, Seeman, Tomas, Thumfart, Julia, Grundmann, Franziska, Galiano, Matthias, Buchholz, Björn, Buescher, Rainer, UCL - (SLuc) Service de pédiatrie générale, De Mul, Aurélie, Burgmaier, Kathrin, Ariceta, Gema, Bald, Martin, Buescher, Anja Katrin, Burgmaier, Mathias, Erger, Florian, Gessner, Michaela, Gokce, Ibrahim, Koenig, Jens, Kowalewska, Claudia, Massella, Laura, Mastrangelo, Antonio, Mekahli, Djalila, Pape, Lars, Patzer, Ludwig, Potemkina, Alexandra, Schalk, Gesa, Schild, Raphael, Shroff, Rukshana, Szczepanska, Maria, Taranta-Janusz, Katarzyna, Tkaczyk, Marcin, Weber, Lutz Thorsten, Wuehl, Elke, Wurm, Donald, Wygoda, Simone, Zagozdzon, Ilona, Doetsch, Joerg, Oh, Jun, Schaefer, Franz, Liebau, Max Christoph, and Ege Üniversitesi
Subjects: Male, Pediatrics, medicine.medical_treatment, Medizin, 030232 urology & nephrology, INFANTS, lcsh:Medicine, Nephrectomy, RECOMMENDATIONS, Cohort Studies, 0302 clinical medicine, Postoperative Complications, Risk Factors, HYPOTENSION, Polycystic Kidney, Medicine, UNILATERAL NEPHRECTOMY, ENCODES, lcsh:Science, Renal Dialysis/statistics & numerical data, PERITONEAL-DIALYSIS, Kidney, ddc:618, Multidisciplinary, Autosomal recessive polycystic kidney disease (ARPKD), Autosomal Recessive Polycystic Kidney Disease, medicine.anatomical_structure, Cohort, ARegPKD consortium, Disease Progression, Female, Cohort study, Nephrectomy/adverse effects, medicine.medical_specialty, Renal function, MATURATION, Article, 03 medical and health sciences, Polycystic kidney disease, Renal Dialysis, 030225 pediatrics, MANAGEMENT, Humans, In patient, Dialysis, Polycystic Kidney, Autosomal Recessive, Nervous System Diseases/epidemiology/etiology, Autosomal Recessive/surgery, Paediatric kidney disease, business.industry, lcsh:R, 1ST YEAR, NEUROPATHY, Infant, Newborn, Infant, Newborn, medicine.disease, Postoperative Complications/epidemiology/etiology, lcsh:Q, Nervous System Diseases, business
Abstract: To test the association between bilateral nephrectomies in patients with autosomal recessive polycystic kidney disease (ARPKD) and long-term clinical outcome and to identify risk factors for severe outcomes, a dataset comprising 504 patients from the international registry study ARegPKD was analyzed for characteristics and complications of patients with very early (? 3 months; VEBNE) and early (4–15 months; EBNE) bilateral nephrectomies. Patients with very early dialysis (VED, onset ? 3 months) without bilateral nephrectomies and patients with total kidney volumes (TKV) comparable to VEBNE infants served as additional control groups. We identified 19 children with VEBNE, 9 with EBNE, 12 with VED and 11 in the TKV control group. VEBNE patients suffered more frequently from severe neurological complications in comparison to all control patients. Very early bilateral nephrectomies and documentation of severe hypotensive episodes were independent risk factors for severe neurological complications. Bilateral nephrectomies within the first 3 months of life are associated with a risk of severe neurological complications later in life. Our data support a very cautious indication of very early bilateral nephrectomies in ARPKD, especially in patients with residual kidney function, and emphasize the importance of avoiding severe hypotensive episodes in this at-risk cohort. © 2020, The Author(s)., Marga und Walter Boll-Stiftung Universität zu Köln, UoC Bundesministerium für Bildung und Forschung, BMBF: 01GM1903, 01GM1515 PKD Foundation, PKDF European Paediatric Neurology Society, EPNS, We thank the German Society for Pediatric Nephrology (GPN) and the ESCAPE Network for their support. ML was supported by grants of the GPN, the European Society for Paediatric Nephrology (ESPN), the German PKD foundation, the Koeln Fortune program, the GEROK program of the Medical Faculty of University of Cologne, and the Marga and Walter Boll-Foundation. FS and ML are supported by the the German Federal Ministry of Research and Education (BMBF grant 01GM1515 and 01GM1903). KB was supported by the Koeln Fortune program of the Medical Faculty of University of Cologne and the Marga and Walter Boll-Foundation. This work was generated within the European Reference Network for Rare Kidney Disorders (ERKNet). Open Access funding provided by Projekt DEAL.
Published: 2020

35. Treatment and long-term outcome in primary nephrogenic diabetes insipidus

Author: UCL - SSS/IREC/NEFR - Pôle de Néphrologie, Lopez-Garcia, Sergio C, Downie, Mallory L, Kim, Ji Soo, Boyer, Olivia, Walsh, Stephen B, Nijenhuis, Tom, Papizh, Svetlana, Yadav, Pallavi, Reynolds, Ben C, Decramer, Stéphane, Besouw, Martine, Perelló Carrascosa, Manel, La Scola, Claudio, Trepiccione, Francesco, Ariceta, Gema, Hummel, Aurélie, Dossier, Claire, Sayer, John A, Konrad, Martin, Keijzer-Veen, Mandy G, Awan, Atif, Basu, Biswanath, Chauveau, Dominique, Madariaga, Leire, Koster-Kamphuis, Linda, Furlano, Mónica, Zacchia, Miriam, Marzuillo, Pierluigi, Tse, Yincent, Dursun, Ismail, Pinarbasi, Ayse Seda, Tramma, Despoina, Hoorn, Ewout J, Gokce, Ibrahim, Nicholls, Kathleen, Eid, Loai A, Sartz, Lisa, Riordan, Michael, Hooman, Nakysa, Printza, Nikoleta, Bonny, Olivier, Arango Sancho, Pedro, Schild, Raphael, Sinha, Rajiv, Guarino, Stefano, Martinez Jimenez, Victor, Rodríguez Peña, Lidia, Belge, Hendrica, Devuyst, Olivier, Wlodkowski, Tanja, Emma, Francesco, Levtchenko, Elena, Knoers, Nine V A M, Bichet, Daniel G, Schaefer, Franz, Kleta, Robert, Wasilewska, Anna, Longo, Germana, Espinosa, Laura, Miglinas, Marius, Stroescu, Ramona, Huseynova, Shafa, Stabouli, Stella, Sathyanarayana, Vijaya, Andronesi, Andreea G, Hahn, Deirdre, Sharma, Deepak, Petrosyan, Edita, Frangou, Eleni, Mohebbi, Nilufar, Dinçel, Nida Temizkan, Braconnier, Philippe, Gilbert, Rodney D, Sambo, Adamu, Tasic, Velibor, Henne, Thomas, Bockenhauer, Detlef, UCL - SSS/IREC/NEFR - Pôle de Néphrologie, Lopez-Garcia, Sergio C, Downie, Mallory L, Kim, Ji Soo, Boyer, Olivia, Walsh, Stephen B, Nijenhuis, Tom, Papizh, Svetlana, Yadav, Pallavi, Reynolds, Ben C, Decramer, Stéphane, Besouw, Martine, Perelló Carrascosa, Manel, La Scola, Claudio, Trepiccione, Francesco, Ariceta, Gema, Hummel, Aurélie, Dossier, Claire, Sayer, John A, Konrad, Martin, Keijzer-Veen, Mandy G, Awan, Atif, Basu, Biswanath, Chauveau, Dominique, Madariaga, Leire, Koster-Kamphuis, Linda, Furlano, Mónica, Zacchia, Miriam, Marzuillo, Pierluigi, Tse, Yincent, Dursun, Ismail, Pinarbasi, Ayse Seda, Tramma, Despoina, Hoorn, Ewout J, Gokce, Ibrahim, Nicholls, Kathleen, Eid, Loai A, Sartz, Lisa, Riordan, Michael, Hooman, Nakysa, Printza, Nikoleta, Bonny, Olivier, Arango Sancho, Pedro, Schild, Raphael, Sinha, Rajiv, Guarino, Stefano, Martinez Jimenez, Victor, Rodríguez Peña, Lidia, Belge, Hendrica, Devuyst, Olivier, Wlodkowski, Tanja, Emma, Francesco, Levtchenko, Elena, Knoers, Nine V A M, Bichet, Daniel G, Schaefer, Franz, Kleta, Robert, Wasilewska, Anna, Longo, Germana, Espinosa, Laura, Miglinas, Marius, Stroescu, Ramona, Huseynova, Shafa, Stabouli, Stella, Sathyanarayana, Vijaya, Andronesi, Andreea G, Hahn, Deirdre, Sharma, Deepak, Petrosyan, Edita, Frangou, Eleni, Mohebbi, Nilufar, Dinçel, Nida Temizkan, Braconnier, Philippe, Gilbert, Rodney D, Sambo, Adamu, Tasic, Velibor, Henne, Thomas, and Bockenhauer, Detlef
Abstract: BACKGROUND: Primary nephrogenic diabetes insipidus (NDI) is a rare disorder and little is known about treatment practices and long-term outcome. METHODS: Paediatric and adult nephrologists contacted through European professional organizations entered data in an online form. RESULTS: Data were collected on 315 patients (22 countries, male 84%, adults 35%). Mutation testing had been performed in 270 (86%); pathogenic variants were identified in 258 (96%). The median (range) age at diagnosis was 0.6 (0.0-60) years and at last follow-up 14.0 (0.1-70) years. In adults, height was normal with a mean (standard deviation) score of -0.39 (±1.0), yet there was increased prevalence of obesity (body mass index >30 kg/m2; 41% versus 16% European average; P < 0.001). There was also increased prevalence of chronic kidney disease (CKD) Stage ≥2 in children (32%) and adults (48%). Evidence of flow uropathy was present in 38%. A higher proportion of children than adults (85% versus 54%; P < 0.001) received medications to reduce urine output. Patients ≥25 years were less likely to have a university degree than the European average (21% versus 35%; P = 0.003) but full-time employment was similar. Mental health problems, predominantly attention-deficit hyperactivity disorder (16%), were reported in 36% of patients. CONCLUSION: This large NDI cohort shows an overall favourable outcome with normal adult height and only mild to moderate CKD in most. Yet, while full-time employment was similar to the European average, educational achievement was lower, and more than half had urological and/or mental health problems.
Published: 2020

36. Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations

Author: Connaughton, Dervla M., primary, Dai, Rufeng, additional, Owen, Danielle J., additional, Marquez, Jonathan, additional, Mann, Nina, additional, Graham-Paquin, Adda L., additional, Nakayama, Makiko, additional, Coyaud, Etienne, additional, Laurent, Estelle M.N., additional, St-Germain, Jonathan R., additional, Blok, Lot Snijders, additional, Vino, Arianna, additional, Klämbt, Verena, additional, Deutsch, Konstantin, additional, Wu, Chen-Han Wilfred, additional, Kolvenbach, Caroline M., additional, Kause, Franziska, additional, Ottlewski, Isabel, additional, Schneider, Ronen, additional, Kitzler, Thomas M., additional, Majmundar, Amar J., additional, Buerger, Florian, additional, Onuchic-Whitford, Ana C., additional, Youying, Mao, additional, Kolb, Amy, additional, Salmanullah, Daanya, additional, Chen, Evan, additional, van der Ven, Amelie T., additional, Rao, Jia, additional, Ityel, Hadas, additional, Seltzsam, Steve, additional, Rieke, Johanna M., additional, Chen, Jing, additional, Vivante, Asaf, additional, Hwang, Daw-Yang, additional, Kohl, Stefan, additional, Dworschak, Gabriel C., additional, Hermle, Tobias, additional, Alders, Mariëlle, additional, Bartolomaeus, Tobias, additional, Bauer, Stuart B., additional, Baum, Michelle A., additional, Brilstra, Eva H., additional, Challman, Thomas D., additional, Zyskind, Jacob, additional, Costin, Carrie E., additional, Dipple, Katrina M., additional, Duijkers, Floor A., additional, Ferguson, Marcia, additional, Fitzpatrick, David R., additional, Fick, Roger, additional, Glass, Ian A., additional, Hulick, Peter J., additional, Kline, Antonie D., additional, Krey, Ilona, additional, Kumar, Selvin, additional, Lu, Weining, additional, Marco, Elysa J., additional, Wentzensen, Ingrid M., additional, Mefford, Heather C., additional, Platzer, Konrad, additional, Povolotskaya, Inna S., additional, Savatt, Juliann M., additional, Shcherbakova, Natalia V., additional, Senguttuvan, Prabha, additional, Squire, Audrey E., additional, Stein, Deborah R., additional, Thiffault, Isabelle, additional, Voinova, Victoria Y., additional, Somers, Michael J.G., additional, Ferguson, Michael A., additional, Traum, Avram Z., additional, Daouk, Ghaleb H., additional, Daga, Ankana, additional, Rodig, Nancy M., additional, Terhal, Paulien A., additional, van Binsbergen, Ellen, additional, Eid, Loai A., additional, Tasic, Velibor, additional, Rasouly, Hila Milo, additional, Lim, Tze Y., additional, Ahram, Dina F., additional, Gharavi, Ali G., additional, Reutter, Heiko M., additional, Rehm, Heidi L., additional, MacArthur, Daniel G., additional, Lek, Monkol, additional, Laricchia, Kristen M., additional, Lifton, Richard P., additional, Xu, Hong, additional, Mane, Shrikant M., additional, Sanna-Cherchi, Simone, additional, Sharrocks, Andrew D., additional, Raught, Brian, additional, Fisher, Simon E., additional, Bouchard, Maxime, additional, Khokha, Mustafa K., additional, Shril, Shirlee, additional, and Hildebrandt, Friedhelm, additional
Published: 2020
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37. A truncating NRIP1 variant in an Arabic family with congenital anomalies of the kidneys and urinary tract.

Author: Zheng, Bixia, Wang, Chunyan, Seltzsam, Steve, Schneider, Sophia, Schierbaum, Luca, Wu, Wilfred, Dai, Rufeng, Connaughton, Dervla M., Nakayama, Makiko, Mann, Nina, Bauer, Stuart B., Awad, Hazem S., Eid, Loai A., Tasic, Velibor, Shril, Shirlee, and Hildebrandt, Friedhelm
Abstract: Congenital anomalies of the kidneys and urinary tract (CAKUT) constitute the most common cause of early‐onset chronic kidney disease. In a previous study, we identified a heterozygous truncating variant in nuclear receptor‐interacting protein 1 (NRIP1) as CAKUT causing via dysregulation of retinoic acid signaling. This large family remains the only family with NRIP1 variant reported so far. Here, we describe one additional CAKUT family with a truncating variant in NRIP1. By whole‐exome sequencing, we identified one heterozygous frameshift variant (p.Asn676Lysfs*27) in an isolated CAKUT patient with bilateral hydroureteronephrosis and right grade V vesicoureteral reflux (VUR) and in the affected father with left renal hypoplasia. The variant is present twice in a heterozygous state in the gnomAD database of 125,000 control individuals. We report the second CAKUT family with a truncating variant in NRIP1, confirming that loss‐of‐function mutations in NRIP1 are a novel monogenic cause of human autosomal dominant CAKUT. [ABSTRACT FROM AUTHOR]
Published: 2022
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38. An unusual cause of pink diapers in an infant: Questions

Author: Amin, Rasheda, Eid, Loai, Edvardsson, Vidar O., Fairbanks, Lynette, and Moudgil, Asha
Published: 2016
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39. Risk Factors for Early Dialysis Dependency in Autosomal Recessive Polycystic Kidney Disease.

Author: UCL - SSS/IREC/PEDI - Pôle de Pédiatrie, UCL - (SLuc) Service de pédiatrie générale, Burgmaier, Kathrin, Kunzmann, Kevin, Ariceta, Gema, Bergmann, Carsten, Buescher, Anja Katrin, Burgmaier, Mathias, Dursun, Ismail, Duzova, Ali, Eid, Loai, Erger, Florian, Feldkoetter, Markus, Galiano, Matthias, Geßner, Michaela, Goebel, Heike, Gokce, Ibrahim, Haffner, Dieter, Hooman, Nakysa, Hoppe, Bernd, Jankauskiene, Augustina, Klaus, Guenter, König, Jens, Litwin, Mieczyslaw, Massella, Laura, Mekahli, Djalila, Melek, Engin, Mir, Sevgi, Pape, Lars, Prikhodina, Larisa, Ranchin, Bruno, Schild, Raphael, Seeman, Tomas, Sever, Lale, Shroff, Rukshana, Soliman, Neveen A, Stabouli, Stella, Stanczyk, Malgorzata, Tabel, Yilmaz, Taranta-Janusz, Katarzyna, Testa, Sara, Thumfart, Julia, Topaloglu, Rezan, Weber, Lutz Thorsten, Wicher, Dorota, Wühl, Elke, Wygoda, Simone, Yilmaz, Alev, Zachwieja, Katarzyna, Zagozdzon, Ilona, Zerres, Klaus, ESCAPE Study Group, GPN Study Group, Dötsch, Jörg, Schaefer, Franz, Liebau, Max Christoph, ARegPKD consortium, Ranguelov, Nadejda, Godefroid, Nathalie, UCL - SSS/IREC/PEDI - Pôle de Pédiatrie, UCL - (SLuc) Service de pédiatrie générale, Burgmaier, Kathrin, Kunzmann, Kevin, Ariceta, Gema, Bergmann, Carsten, Buescher, Anja Katrin, Burgmaier, Mathias, Dursun, Ismail, Duzova, Ali, Eid, Loai, Erger, Florian, Feldkoetter, Markus, Galiano, Matthias, Geßner, Michaela, Goebel, Heike, Gokce, Ibrahim, Haffner, Dieter, Hooman, Nakysa, Hoppe, Bernd, Jankauskiene, Augustina, Klaus, Guenter, König, Jens, Litwin, Mieczyslaw, Massella, Laura, Mekahli, Djalila, Melek, Engin, Mir, Sevgi, Pape, Lars, Prikhodina, Larisa, Ranchin, Bruno, Schild, Raphael, Seeman, Tomas, Sever, Lale, Shroff, Rukshana, Soliman, Neveen A, Stabouli, Stella, Stanczyk, Malgorzata, Tabel, Yilmaz, Taranta-Janusz, Katarzyna, Testa, Sara, Thumfart, Julia, Topaloglu, Rezan, Weber, Lutz Thorsten, Wicher, Dorota, Wühl, Elke, Wygoda, Simone, Yilmaz, Alev, Zachwieja, Katarzyna, Zagozdzon, Ilona, Zerres, Klaus, ESCAPE Study Group, GPN Study Group, Dötsch, Jörg, Schaefer, Franz, Liebau, Max Christoph, ARegPKD consortium, Ranguelov, Nadejda, and Godefroid, Nathalie
Abstract: OBJECTIVE: To identify prenatal, perinatal, and postnatal risk factors for dialysis within the first year of life in children with autosomal recessive polycystic kidney disease (ARPKD) as a basis for parental counseling after prenatal and perinatal diagnosis. STUDY DESIGN: A dataset comprising 385 patients from the ARegPKD international registry study was analyzed for potential risk markers for dialysis during the first year of life. RESULTS: Thirty-six out of 385 children (9.4%) commenced dialysis in the first year of life. According to multivariable Cox regression analysis, the presence of oligohydramnios or anhydramnios, prenatal kidney enlargement, a low Apgar score, and the need for postnatal breathing support were independently associated with an increased hazard ratio for requiring dialysis within the first year of life. The increased risk associated with Apgar score and perinatal assisted breathing was time-dependent and vanished after 5 and 8 months of life, respectively. The predicted probabilities for early dialysis varied from 1.5% (95% CI, 0.5%-4.1%) for patients with ARPKD with no prenatal sonographic abnormalities to 32.3% (95% CI, 22.2%-44.5%) in cases of documented oligohydramnios or anhydramnios, renal cysts, and enlarged kidneys. CONCLUSIONS: This study, which identified risk factors associated with onset of dialysis in ARPKD in the first year of life, may be helpful in prenatal parental counseling in cases of suspected ARPKD.
Published: 2018

40. Risk Factors for Early Dialysis Dependency in Autosomal Recessive Polycystic Kidney Disease

Author: Burgmaier, Kathrin, Kunzmann, Kevin, Ariceta, Gema, Bergmann, Carsten, Buescher, Anja Katrin, Burgmaier, Mathias, Dursun, Ismail, Duzova, Ali, Eid, Loai, Erger, Florian, Feldkoetter, Markus, Galiano, Matthias, Gessner, Michaela, Goebel, Heike, Gokce, Ibrahim, Haffner, Dieter, Hooman, Nakysa, Hoppe, Bernd, Jankauskiene, Augustina, Klaus, Guenter, Koenig, Jens, Litwin, Mieczyslaw, Massella, Laura, Mekahli, Djalila, Melek, Engin, Mir, Sevgi, Pape, Lars, Prikhodina, Larisa, Ranchin, Bruno, Schild, Raphael, Seeman, Tomas, Sever, Late, Shroff, Rukshana, Soliman, Neveen A., Stabouli, Stella, Stanczyk, Malgorzata, Tabel, Yilmaz, Taranta-Janusz, Katarzyna, Testa, Sara, Thumfart, Julia, Topaloglu, Rezan, Weber, Lutz Thorsten, Wicher, Dorota, Wuehl, Elke, Wygoda, Simone, Yilmaz, Alev, Zachwieja, Katarzyna, Zagozdzon, Ilona, Zerres, Klaus, Doetsch, Joerg, Schaefer, Franz, Liebau, Max Christoph, Burgmaier, Kathrin, Kunzmann, Kevin, Ariceta, Gema, Bergmann, Carsten, Buescher, Anja Katrin, Burgmaier, Mathias, Dursun, Ismail, Duzova, Ali, Eid, Loai, Erger, Florian, Feldkoetter, Markus, Galiano, Matthias, Gessner, Michaela, Goebel, Heike, Gokce, Ibrahim, Haffner, Dieter, Hooman, Nakysa, Hoppe, Bernd, Jankauskiene, Augustina, Klaus, Guenter, Koenig, Jens, Litwin, Mieczyslaw, Massella, Laura, Mekahli, Djalila, Melek, Engin, Mir, Sevgi, Pape, Lars, Prikhodina, Larisa, Ranchin, Bruno, Schild, Raphael, Seeman, Tomas, Sever, Late, Shroff, Rukshana, Soliman, Neveen A., Stabouli, Stella, Stanczyk, Malgorzata, Tabel, Yilmaz, Taranta-Janusz, Katarzyna, Testa, Sara, Thumfart, Julia, Topaloglu, Rezan, Weber, Lutz Thorsten, Wicher, Dorota, Wuehl, Elke, Wygoda, Simone, Yilmaz, Alev, Zachwieja, Katarzyna, Zagozdzon, Ilona, Zerres, Klaus, Doetsch, Joerg, Schaefer, Franz, and Liebau, Max Christoph
Abstract: Objective To identify prenatal, perinatal, and postnatal risk factors for dialysis within the first year of life in children with autosomal recessive polycystic kidney disease (ARPKD) as a basis for parental counseling after prenatal and perinatal diagnosis. Study design A dataset comprising 385 patients from the ARegPKD international registry study was analyzed for potential risk markers for dialysis during the first year of life. Results Thirty-six out of 385 children (9.4%) commenced dialysis in the first year of life. According to multivariable Cox regression analysis, the presence of oligohydramnios or anhydramnios, prenatal kidney enlargement, a low Apgar score, and the need for postnatal breathing support were independently associated with an increased hazard ratio for requiring dialysis within the first year of life. The increased risk associated with Apgar score and perinatal assisted breathing was time-dependent and vanished after 5 and 8 months of life, respectively. The predicted probabilities for early dialysis varied from 1.5% (95% CI, 0.5%-4.1%) for patients with ARPKD with no prenatal sonographic abnormalities to 32.3% (95% CI, 22.2%-44.5%) in cases of documented oligohydramnios or anhydramnios, renal cysts, and enlarged kidneys. Conclusions This study, which identified risk factors associated with onset of dialysis in ARPKD in the first year of life. may be helpful in prenatal parental counseling in cases of suspected ARPKD.
Published: 2018

41. Whole-Exome Sequencing Identifies Causative Mutations in Families with Congenital Anomalies of the Kidney and Urinary Tract

Author: van der Ven, Amelie T., primary, Connaughton, Dervla M., additional, Ityel, Hadas, additional, Mann, Nina, additional, Nakayama, Makiko, additional, Chen, Jing, additional, Vivante, Asaf, additional, Hwang, Daw-yang, additional, Schulz, Julian, additional, Braun, Daniela A., additional, Schmidt, Johanna Magdalena, additional, Schapiro, David, additional, Schneider, Ronen, additional, Warejko, Jillian K., additional, Daga, Ankana, additional, Majmundar, Amar J., additional, Tan, Weizhen, additional, Jobst-Schwan, Tilman, additional, Hermle, Tobias, additional, Widmeier, Eugen, additional, Ashraf, Shazia, additional, Amar, Ali, additional, Hoogstraaten, Charlotte A., additional, Hugo, Hannah, additional, Kitzler, Thomas M., additional, Kause, Franziska, additional, Kolvenbach, Caroline M., additional, Dai, Rufeng, additional, Spaneas, Leslie, additional, Amann, Kassaundra, additional, Stein, Deborah R., additional, Baum, Michelle A., additional, Somers, Michael J.G., additional, Rodig, Nancy M., additional, Ferguson, Michael A., additional, Traum, Avram Z., additional, Daouk, Ghaleb H., additional, Bogdanović, Radovan, additional, Stajić, Natasa, additional, Soliman, Neveen A., additional, Kari, Jameela A., additional, El Desoky, Sherif, additional, Fathy, Hanan M., additional, Milosevic, Danko, additional, Al-Saffar, Muna, additional, Awad, Hazem S., additional, Eid, Loai A., additional, Selvin, Aravind, additional, Senguttuvan, Prabha, additional, Sanna-Cherchi, Simone, additional, Rehm, Heidi L., additional, MacArthur, Daniel G., additional, Lek, Monkol, additional, Laricchia, Kristen M., additional, Wilson, Michael W., additional, Mane, Shrikant M., additional, Lifton, Richard P., additional, Lee, Richard S., additional, Bauer, Stuart B., additional, Lu, Weining, additional, Reutter, Heiko M., additional, Tasic, Velibor, additional, Shril, Shirlee, additional, and Hildebrandt, Friedhelm, additional
Published: 2018
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42. Risk Factors for Early Dialysis Dependency in Autosomal Recessive Polycystic Kidney Disease

Author: Burgmaier, Kathrin, primary, Kunzmann, Kevin, additional, Ariceta, Gema, additional, Bergmann, Carsten, additional, Buescher, Anja Katrin, additional, Burgmaier, Mathias, additional, Dursun, Ismail, additional, Duzova, Ali, additional, Eid, Loai, additional, Erger, Florian, additional, Feldkoetter, Markus, additional, Galiano, Matthias, additional, Geßner, Michaela, additional, Goebel, Heike, additional, Gokce, Ibrahim, additional, Haffner, Dieter, additional, Hooman, Nakysa, additional, Hoppe, Bernd, additional, Jankauskiene, Augustina, additional, Klaus, Guenter, additional, König, Jens, additional, Litwin, Mieczyslaw, additional, Massella, Laura, additional, Mekahli, Djalila, additional, Melek, Engin, additional, Mir, Sevgi, additional, Pape, Lars, additional, Prikhodina, Larisa, additional, Ranchin, Bruno, additional, Schild, Raphael, additional, Seeman, Tomas, additional, Sever, Lale, additional, Shroff, Rukshana, additional, Soliman, Neveen A., additional, Stabouli, Stella, additional, Stanczyk, Malgorzata, additional, Tabel, Yilmaz, additional, Taranta-Janusz, Katarzyna, additional, Testa, Sara, additional, Thumfart, Julia, additional, Topaloglu, Rezan, additional, Weber, Lutz Thorsten, additional, Wicher, Dorota, additional, Wühl, Elke, additional, Wygoda, Simone, additional, Yilmaz, Alev, additional, Zachwieja, Katarzyna, additional, Zagozdzon, Ilona, additional, Zerres, Klaus, additional, Dötsch, Jörg, additional, Schaefer, Franz, additional, Liebau, Max Christoph, additional, Ranguelov, Nadejda, additional, Godefroid, Nathalie, additional, Collard, Laure, additional, Lombet, Jacques, additional, Maquet, Julie, additional, Schalk, Gesa, additional, Querfeld, Uwe, additional, Beck, Bodo B., additional, Benzing, Thomas, additional, Buettner, Reinhard, additional, Grundmann, Franziska, additional, Kurschat, Christine, additional, Benz, Kerstin, additional, Tzschoppe, Anja, additional, Buchholz, Björn, additional, Buescher, Rainer, additional, Häffner, Karsten, additional, Pohl, Martin, additional, Gross, Oliver, additional, Krügel, Jenny, additional, Stock, Johanna, additional, Patzer, Ludwig, additional, Oh, Jun, additional, Bernhardt, Wanja, additional, Doyon, Anke, additional, Vinke, Tobias, additional, Sander, Anja, additional, Henn, Michael, additional, Derichs, Ute, additional, Beetz, Rolf, additional, Jeck, Nikola, additional, Lange-Sperandio, Bärbel, additional, Ponsel, Sabine, additional, Kusser, Franziska, additional, Uetz, Barbara, additional, Benz, Marcus, additional, Schmidt, Silke, additional, Huppertz-Kessler, Christina, additional, Kranz, Birgitta, additional, Titieni, Andrea, additional, Wurm, Donald, additional, Leichter, Heinz E., additional, Bald, Martin, additional, Billing, Heiko, additional, Nabhan, Marwa M., additional, Lara, Luis Enrique, additional, Papachristou, Fotios, additional, Emma, Francesco, additional, Cerkauskiene, Rimante, additional, Azukaitis, Karolis, additional, Wasilewska, Anna, additional, Balasz-Chmielewska, Irena, additional, Miklaszewska, Monika, additional, Tkaczyk, Marcin, additional, Sikora, Przemyslaw, additional, Zaniew, Marcin, additional, Niemirska, Ania, additional, Antoniewicz, Jolanta, additional, Lesiak, Justyna, additional, Afonso, Alberto Caldas, additional, Teixeira, Ana, additional, Milosevski-Lomic, Gordana, additional, Paripović, Dusan, additional, Peco-Antic, Amira, additional, Papizh, Svetlana, additional, Bayazit, Aysun Karabay, additional, Anarat, Ali, additional, Soylu, Alper, additional, Kavukcu, Salih, additional, Candan, Cengiz, additional, Caliskan, Salim, additional, Canpolat, Nur, additional, Emre, Sevinc, additional, Alpay, Harika, additional, Akinci, Nurver, additional, Conkar, Secil, additional, Poyrazoglu, Hakan M., additional, and Dusunsel, Ruhan, additional
Published: 2018
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43. An Unusual Cause of Pink Diaper in An Infant

Author: Amin, Rasheda, Eid, Loai, Edvardsson, Vidar O., Fairbanks, Lynette, and Moudgil, Asha
Subjects: Male, Microscopy, Xanthine Dehydrogenase, DNA Mutational Analysis, Diapers, Infant, Color, Infant, Urinalysis, Article, Uric Acid, Phenotype, Mutation, Humans, Genetic Predisposition to Disease, Crystallization, Biomarkers, Metabolism, Inborn Errors
Published: 2015

44. An unusual cause of “pink diaper” in an infant: Answers

Author: Amin, Rasheda, primary, Eid, Loai, additional, Edvardsson, Vidar O., additional, Fairbanks, Lynette, additional, and Moudgil, Asha, additional
Published: 2015
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45. An unusual cause of pink diapers in an infant: Questions

Author: Amin, Rasheda, primary, Eid, Loai, additional, Edvardsson, Vidar O., additional, Fairbanks, Lynette, additional, and Moudgil, Asha, additional
Published: 2015
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46. Late acute rejection: Incidence, risk factors, and effect on graft survival and function

Author: Eid, Loai, primary, Tuchman, Shamir, additional, and Moudgil, Asha, additional
Published: 2013
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47. PREDICTORS OF RENAL OUTCOME IN CHILDREN WITH ANCA ASSOCIATED VASCULITIS: RESULTS OF THE ERKNET/ESPN/IPNA SURVEY

Author: Marlais, Matko, Wlodkowski, Tanja, Printza, Nikoleta, Kronsteiner, Dorothea, Brinster, Regina, Aksenova, Marina, Ashoor, Isa, Awan, Atif, Balasubramanian, Ramnath, Basu, Biswanath, Bekassy, Zivile, Boyer, Olivia, Chan, Eugene, Chica, Carlos, Csaicsich, Dagmar, Decramer, Stephane, Dorresteijn, Eiske, Drozynska-Duklas, Magdalena, Eid, Loai, Espinosa, Laura, Ferraris, Veronica, Flogelova, Hana, Forero-Delgadillo, Jessica, Gracchi, Valentina, Lopez Gonzalez, Mercedes, Hansen, Matthias, Hattori, Motoshi, Hooman, Nakysa, Htun, Swe Lwin, Ivanov, Dmytro, Kang, Hee Gyung, Karava, Vasiliki, Kazyra, Ina, Laurent, Audrey, Lungu, Adrian Catalin, Marks, Stephen, Maxted, Andrew, Moczulska, Anna, Mueller, Rebekka, Nastausheva, Tatiana, Parolin, Mattia, Pecoraro, Carmine, Principi, Illana, Sanchez-Kazi, Cheryl, Seha Kamil Saygili, Schild, Raphael, Shenoy, Mohan, Sinha, Rajiv, Paula Spizzirri, Ana, Stack, Maria, Szczepanska, Maria, Tsygin, Alexey, Tzeng, Julia, Urbonas, Vaidotas, Zhang, Tao, Zieg, Jakub, Zotta, Federica, Schaefer, Franz, Vivarelli, Marina, and Tullus, Kjell

48. Risk Factors for Early Dialysis Dependency in Autosomal Recessive Polycystic Kidney Disease

Author: Kathrin Burgmaier, Kevin Kunzmann, Gema Ariceta, Carsten Bergmann, Anja Katrin Buescher, Mathias Burgmaier, Ismail Dursun, Ali Duzova, Loai Eid, Florian Erger, Markus Feldkoetter, Matthias Galiano, Michaela Geßner, Heike Goebel, Ibrahim Gokce, Dieter Haffner, Nakysa Hooman, Bernd Hoppe, Augustina Jankauskiene, Guenter Klaus, Jens König, Mieczyslaw Litwin, Laura Massella, Djalila Mekahli, Engin Melek, Sevgi Mir, Lars Pape, Larisa Prikhodina, Bruno Ranchin, Raphael Schild, Tomas Seeman, Lale Sever, Rukshana Shroff, Neveen A. Soliman, Stella Stabouli, Malgorzata Stanczyk, Yilmaz Tabel, Katarzyna Taranta-Janusz, Sara Testa, Julia Thumfart, Rezan Topaloglu, Lutz Thorsten Weber, Dorota Wicher, Elke Wühl, Simone Wygoda, Alev Yilmaz, Katarzyna Zachwieja, Ilona Zagozdzon, Klaus Zerres, Jörg Dötsch, Franz Schaefer, Max Christoph Liebau, Nadejda Ranguelov, Nathalie Godefroid, Laure Collard, Jacques Lombet, Julie Maquet, Gesa Schalk, Uwe Querfeld, Bodo B. Beck, Thomas Benzing, Reinhard Buettner, Franziska Grundmann, Christine Kurschat, Kerstin Benz, Anja Tzschoppe, Björn Buchholz, Rainer Buescher, Karsten Häffner, Martin Pohl, Oliver Gross, Jenny Krügel, Johanna Stock, Ludwig Patzer, Jun Oh, Wanja Bernhardt, Anke Doyon, Tobias Vinke, Anja Sander, Michael Henn, Ute Derichs, Rolf Beetz, Nikola Jeck, Bärbel Lange-Sperandio, Sabine Ponsel, Franziska Kusser, Barbara Uetz, Marcus Benz, Silke Schmidt, Christina Huppertz-Kessler, Birgitta Kranz, Andrea Titieni, Donald Wurm, Heinz E. Leichter, Martin Bald, Heiko Billing, Marwa M. Nabhan, Luis Enrique Lara, Fotios Papachristou, Francesco Emma, Rimante Cerkauskiene, Karolis Azukaitis, Anna Wasilewska, Irena Balasz-Chmielewska, Monika Miklaszewska, Marcin Tkaczyk, Przemyslaw Sikora, Marcin Zaniew, Ania Niemirska, Jolanta Antoniewicz, Justyna Lesiak, Alberto Caldas Afonso, Ana Teixeira, Gordana Milosevski-Lomic, Dusan Paripović, Amira Peco-Antic, Svetlana Papizh, Aysun Karabay Bayazit, Ali Anarat, Alper Soylu, Salih Kavukcu, Cengiz Candan, Salim Caliskan, Nur Canpolat, Sevinc Emre, Harika Alpay, Nurver Akinci, Secil Conkar, Hakan M. Poyrazoglu, Ruhan Dusunsel, Çukurova Üniversitesi, Burgmaier, Kathrin, Kunzmann, Kevin, Ariceta, Gema, Bergmann, Carsten, Buescher, Anja Katrin, Burgmaier, Mathias, Dursun, Ismail, Duzova, Ali, Eid, Loai, Erger, Florian, Feldkoetter, Markus, Galiano, Matthias, Gessner, Michaela, Goebel, Heike, Gokce, Ibrahim, Haffner, Dieter, Hooman, Nakysa, Hoppe, Bernd, Jankauskiene, Augustina, Klaus, Guenter, Koenig, Jens, Litwin, Mieczyslaw, Massella, Laura, Mekahli, Djalila, Melek, Engin, Mir, Sevgi, Pape, Lars, Prikhodina, Larisa, Ranchin, Bruno, Schild, Raphael, Seeman, Tomas, Sever, Late, Shroff, Rukshana, Soliman, Neveen A., Stabouli, Stella, Stanczyk, Malgorzata, Tabel, Yilmaz, Taranta-Janusz, Katarzyna, Testa, Sara, Thumfart, Julia, Topaloglu, Rezan, Weber, Lutz Thorsten, Wicher, Dorota, Wuehl, Elke, Wygoda, Simone, Yilmaz, Alev, Zachwieja, Katarzyna, Zagozdzon, Ilona, Zerres, Klaus, Doetsch, Joerg, Schaefer, Franz, and Liebau, Max Christoph
Subjects: Male, 0301 basic medicine, Time Factors, medicine.medical_treatment, ARPKD, Medizin, 030232 urology & nephrology, PROTEIN, Oligohydramnios, Pediatrics, PKHD1 MUTATIONS, 0302 clinical medicine, Pregnancy, Risk Factors, Prospective Studies, ENCODES, GENOTYPE-PHENOTYPE CORRELATIONS, Obstetrics, Hazard ratio, Autosomal Recessive Polycystic Kidney Disease, CLINICAL-EXPERIENCE, Female, Apgar score, Life Sciences & Biomedicine, renal replacement therapy, medicine.medical_specialty, GENETICS, PKHD1, Risk Assessment, Ultrasonography, Prenatal, 03 medical and health sciences, Renal Dialysis, medicine, Humans, Renal replacement therapy, Dialysis, Polycystic Kidney, Autosomal Recessive, Retrospective Studies, Science & Technology, business.industry, Infant, Newborn, Infant, Retrospective cohort study, medicine.disease, 030104 developmental biology, ciliopathy, Pediatrics, Perinatology and Child Health, business, oligohydramnios, Follow-Up Studies
Abstract: OBJECTIVE: To identify prenatal, perinatal, and postnatal risk factors for dialysis within the first year of life in children with autosomal recessive polycystic kidney disease (ARPKD) as a basis for parental counseling after prenatal and perinatal diagnosis. STUDY DESIGN: A dataset comprising 385 patients from the ARegPKD international registry study was analyzed for potential risk markers for dialysis during the first year of life. RESULTS: Thirty-six out of 385 children (9.4%) commenced dialysis in the first year of life. According to multivariable Cox regression analysis, the presence of oligohydramnios or anhydramnios, prenatal kidney enlargement, a low Apgar score, and the need for postnatal breathing support were independently associated with an increased hazard ratio for requiring dialysis within the first year of life. The increased risk associated with Apgar score and perinatal assisted breathing was time-dependent and vanished after 5 and 8 months of life, respectively. The predicted probabilities for early dialysis varied from 1.5% (95% CI, 0.5%-4.1%) for patients with ARPKD with no prenatal sonographic abnormalities to 32.3% (95% CI, 22.2%-44.5%) in cases of documented oligohydramnios or anhydramnios, renal cysts, and enlarged kidneys. CONCLUSIONS: This study, which identified risk factors associated with onset of dialysis in ARPKD in the first year of life, may be helpful in prenatal parental counseling in cases of suspected ARPKD. ispartof: JOURNAL OF PEDIATRICS vol:199 pages:22-+ ispartof: location:United States status: published
Published: 2018

49. Early childhood height-adjusted total kidney volume as a risk marker of kidney survival in ARPKD.

Author: Burgmaier K, Kilian S, Arbeiter K, Atmis B, Büscher A, Derichs U, Dursun I, Duzova A, Eid LA, Galiano M, Gessner M, Gokce I, Haeffner K, Hooman N, Jankauskiene A, Körber F, Longo G, Massella L, Mekahli D, Miloševski-Lomić G, Nalcacioglu H, Rus R, Shroff R, Stabouli S, Weber LT, Wygoda S, Yilmaz A, Zachwieja K, Zagozdzon I, Dötsch J, Schaefer F, and Liebau MC
Subjects: Adolescent, Biomarkers, Child, Child, Preschool, Cohort Studies, Disease Progression, Female, Glomerular Filtration Rate physiology, Humans, Infant, Liver Cirrhosis physiopathology, Longitudinal Studies, Male, Organ Size genetics, Organ Size physiology, Polycystic Kidney, Autosomal Recessive metabolism, Prognosis, Receptors, Cell Surface genetics, Renal Insufficiency, Chronic physiopathology, Ultrasonography, Kidney physiopathology, Polycystic Kidney, Autosomal Recessive mortality, Polycystic Kidney, Autosomal Recessive physiopathology
Abstract: Autosomal recessive polycystic kidney disease (ARPKD) is characterized by bilateral fibrocystic changes resulting in pronounced kidney enlargement. Impairment of kidney function is highly variable and widely available prognostic markers are urgently needed as a base for clinical decision-making and future clinical trials. In this observational study we analyzed the longitudinal development of sonographic kidney measurements in a cohort of 456 ARPKD patients from the international registry study ARegPKD. We furthermore evaluated correlations of sonomorphometric findings and functional kidney disease with the aim to describe the natural disease course and to identify potential prognostic markers. Kidney pole-to-pole (PTP) length and estimated total kidney volume (eTKV) increase with growth throughout childhood and adolescence despite individual variability. Height-adjusted PTP length decreases over time, but such a trend cannot be seen for height-adjusted eTKV (haeTKV) where we even observed a slight mean linear increase of 4.5 ml/m per year during childhood and adolescence for the overall cohort. Patients with two null PKHD1 variants had larger first documented haeTKV values than children with missense variants (median (IQR) haeTKV 793 (450-1098) ml/m in Null/null, 403 (260-538) ml/m in Null/mis, 230 (169-357) ml/m in Mis/mis). In the overall cohort, estimated glomerular filtration rate decreases with increasing haeTKV (median (IQR) haeTKV 210 (150-267) ml/m in CKD stage 1, 472 (266-880) ml/m in stage 5 without kidney replacement therapy). Strikingly, there is a clear correlation between haeTKV in the first eighteen months of life and kidney survival in childhood and adolescence with ten-year kidney survival rates ranging from 20% in patients of the highest to 94% in the lowest quartile. Early childhood haeTKV may become an easily obtainable prognostic marker of kidney disease in ARPKD, e.g. for the identification of patients for clinical studies., (© 2021. The Author(s).)
Published: 2021
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50. Treatment and long-term outcome in primary nephrogenic diabetes insipidus.

Author: Lopez-Garcia SC, Downie ML, Kim JS, Boyer O, Walsh SB, Nijenhuis T, Papizh S, Yadav P, Reynolds BC, Decramer S, Besouw M, Perelló Carrascosa M, La Scola C, Trepiccione F, Ariceta G, Hummel A, Dossier C, Sayer JA, Konrad M, Keijzer-Veen MG, Awan A, Basu B, Chauveau D, Madariaga L, Koster-Kamphuis L, Furlano M, Zacchia M, Marzuillo P, Tse Y, Dursun I, Pinarbasi AS, Tramma D, Hoorn EJ, Gokce I, Nicholls K, Eid LA, Sartz L, Riordan M, Hooman N, Printza N, Bonny O, Arango Sancho P, Schild R, Sinha R, Guarino S, Martinez Jimenez V, Rodríguez Peña L, Belge H, Devuyst O, Wlodkowski T, Emma F, Levtchenko E, Knoers NVAM, Bichet DG, Schaefer F, Kleta R, and Bockenhauer D
Abstract: Background: Primary nephrogenic diabetes insipidus (NDI) is a rare disorder and little is known about treatment practices and long-term outcome., Methods: Paediatric and adult nephrologists contacted through European professional organizations entered data in an online form., Results: Data were collected on 315 patients (22 countries, male 84%, adults 35%). Mutation testing had been performed in 270 (86%); pathogenic variants were identified in 258 (96%). The median (range) age at diagnosis was 0.6 (0.0-60) years and at last follow-up 14.0 (0.1-70) years. In adults, height was normal with a mean (standard deviation) score of -0.39 (±1.0), yet there was increased prevalence of obesity (body mass index >30 kg/m2; 41% versus 16% European average; P < 0.001). There was also increased prevalence of chronic kidney disease (CKD) Stage ≥2 in children (32%) and adults (48%). Evidence of flow uropathy was present in 38%. A higher proportion of children than adults (85% versus 54%; P < 0.001) received medications to reduce urine output. Patients ≥25 years were less likely to have a university degree than the European average (21% versus 35%; P = 0.003) but full-time employment was similar. Mental health problems, predominantly attention-deficit hyperactivity disorder (16%), were reported in 36% of patients., Conclusion: This large NDI cohort shows an overall favourable outcome with normal adult height and only mild to moderate CKD in most. Yet, while full-time employment was similar to the European average, educational achievement was lower, and more than half had urological and/or mental health problems., (© The Author(s) 2020. Published by Oxford University Press on behalf of ERA-EDTA. All rights reserved.)
Published: 2020
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