34 results on '"Eid, Loai"'
Search Results
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
- Full Text
- View/download PDF
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
- Full Text
- View/download PDF
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
- Full Text
- View/download PDF
5. 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
- Full Text
- View/download PDF
6. 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
- Full Text
- View/download PDF
7. 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
- Full Text
- View/download PDF
8. 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
- Full Text
- View/download PDF
9. 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, Shril, Shirlee, Buerger, Florian, Deutsch, Konstantin, Yousef, Kirollos, Frank, Camille N., Onuchic-Whitford, Ana C., Kitzler, Thomas M., Mao, Youying, Klämbt, Verena, Zahoor, Muhammad Y., Lemberg, Katharina, Majmundar, Amar J., Mansour, Bshara, Saida, Ken, Seltzsam, Steve, Kolvenbach, Caroline M., Merz, Lea Maria, Mertens, Nils D., Hermle, Tobias, Mann, Nina, Pantel, Dalia, Halawi, Abdul A., Bao, Aaron, Schierbaum, Luca, Schneider, Sophia, Salmanullah, Daanya, Ben-Dov, Iddo Z., Sagiv, Itamar, Eid, Loai A., Awad, Hazem Subhi H., Al Saffar, Muna, Soliman, Neveen A., Nabhan, Marwa M., Kari, Jameela A., El Desoky, Sherif, Shalaby, Mohamed A., Ooda, Said, Fathy, Hanan M., Mane, Shrikant, Lifton, Richard P., Somers, Michael J.G., and Hildebrandt, Friedhelm
- Published
- 2024
- Full Text
- View/download PDF
10. 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
- Full Text
- View/download PDF
11. 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
- Full Text
- View/download PDF
12. 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
13. 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
14. 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
- Full Text
- View/download PDF
15. 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
16. 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
17. A Multicenter Study Evaluating the Discontinuation of Eculizumab Therapy in Children with Atypical Hemolytic Uremic Syndrome.
- Author
-
AlZabali, Saeed, AlBatati, Sawsan, Rahim, Khawla, Faqeehi, Hassan, Osman, Abubaker, Bamhraz, Abdulaziz, Saleh, Mohammed A., Kari, Jameela A., Aloufi, Majed, Eid, Loai, Nasser, Haydar, Imam, Abubakr, AlHammadi, Entesar, Alkandari, Omar, Al Riyami, Mohammed, Sethi, Sidharth, Licht, Christoph, Alhasan, Khalid A., and AlAnazi, Abdulkarim
- Subjects
THERAPEUTIC use of monoclonal antibodies ,RESEARCH ,STATISTICS ,CONFIDENCE intervals ,RETROSPECTIVE studies ,FISHER exact test ,DISEASE relapse ,RISK assessment ,DESCRIPTIVE statistics ,KAPLAN-Meier estimator ,HEMOLYTIC-uremic syndrome ,TERMINATION of treatment ,DATA analysis software ,DATA analysis ,DISEASE risk factors ,CHILDREN - Abstract
Background: Atypical hemolytic uremic syndrome (aHUS) is a rare, life-threatening thrombotic microangiopathy (TMA), which has been treated successfully with eculizumab. The optimal duration of eculizumab in treating patients with aHUS remains poorly defined. Methods: We conducted a multicenter retrospective study in the Arabian Gulf region for children of less than 18 years of age who were diagnosed with aHUS and who discontinued eculizumab between June 2013 and June 2021 to assess the rate and risk factors of aHUS recurrence. Results: We analyzed 28 patients with a clinical diagnosis of aHUS who had discontinued eculizumab. The most common reason for the discontinuation of eculizumab was renal and hematological remission (71.4%), followed by negative genetic testing (28.6%). During a median follow-up period of 24 months after discontinuation, 8 patients (28.5%) experienced HUS relapse. The risk factors of recurrence were positive genetic mutations (p = 0.020). On the other hand, there was no significant relationship between the relapse and age of presentation, the need for acute dialysis, the duration of eculizumab therapy before discontinuation, or the timing of eculizumab after the presentation. Regarding the renal outcomes after discontinuation, 23 patients were in remission with normal renal function, while 4 patients had chronic kidney disease (CKD) (three of them had pre-existing chronic kidney disease (CKD) before discontinuation, and one case developed a new CKD after discontinuation) and one patient underwent transplantation. Conclusions: The discontinuation of eculizumab in patients with aHUS is not without risk; it can result in HUS recurrence. Eculizumab discontinuation can be performed with close monitoring of the patients. It is essential to assess risk the factors for relapse before eculizumab discontinuation, in particular in children with a positive complement variant and any degree of residual CKD, as HUS relapse may lead to additional loss of kidney function. Resuming eculizumab promptly after relapse is effective in most patients. [ABSTRACT FROM AUTHOR]
- Published
- 2022
- Full Text
- View/download PDF
18. Late acute rejection: Incidence, risk factors, and effect on graft survival and function
- Author
-
Eid, Loai, Tuchman, Shamir, and Moudgil, Asha
- Published
- 2014
- Full Text
- View/download PDF
19. Whole exome sequencing identifies potential candidate genes for spina bifida derived from mouse models.
- Author
-
Wang, Chunyan, Seltzsam, Steve, Zheng, Bixia, Wu, Chen‐Han Wilfred, Nicolas‐Frank, Camille, Yousef, Kirollos, Au, Kit Sing, Mann, Nina, Pantel, Dalia, Schneider, Sophia, Schierbaum, Luca, Kitzler, Thomas M., Connaughton, Dervla M., Mao, Youying, Dai, Rufeng, Nakayama, Makiko, Kari, Jameela A., El Desoky, Sherif, Shalaby, Mohammed, and Eid, Loai A.
- Abstract
Spina bifida (SB) is the second most common nonlethal congenital malformation. The existence of monogenic SB mouse models and human monogenic syndromes with SB features indicate that human SB may be caused by monogenic genes. We hypothesized that whole exome sequencing (WES) allows identification of potential candidate genes by (i) generating a list of 136 candidate genes for SB, and (ii) by unbiased exome‐wide analysis. We generated a list of 136 potential candidate genes from three categories and evaluated WES data of 50 unrelated SB cases for likely deleterious variants in 136 potential candidate genes, and for potential SB candidate genes exome‐wide. We identified 6 likely deleterious variants in 6 of the 136 potential SB candidate genes in 6 of the 50 SB cases, whereof 4 genes were derived from mouse models, 1 gene was derived from human nonsyndromic SB, and 1 gene was derived from candidate genes known to cause human syndromic SB. In addition, by unbiased exome‐wide analysis, we identified 12 genes as potential candidates for SB. Identification of these 18 potential candidate genes in larger SB cohorts will help decide which ones can be considered as novel monogenic causes of human SB. [ABSTRACT FROM AUTHOR]
- Published
- 2022
- Full Text
- View/download PDF
20. 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
21. 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
- Full Text
- View/download PDF
22. 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, 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, and Miloševski-Lomić, Gordana
- Subjects
AUTOSOMAL recessive polycystic kidney ,TUMOR markers ,CHILD patients ,SURVIVAL rate ,MISSENSE mutation ,KIDNEYS ,PROGNOSIS - 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. [ABSTRACT FROM AUTHOR]
- Published
- 2021
- Full Text
- View/download PDF
23. 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
- Full Text
- View/download PDF
24. 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
25. Editorial Commentary.
- Author
-
Alhasan, Khalid and Eid, Loai
- Subjects
MEETINGS ,COMMITTEES ,NUTRITION ,CONFERENCES & conventions ,KIDNEY transplantation ,KIDNEY diseases ,ADULT education workshops - Abstract
The article offers a preview of the 15th Asian Congress of Pediatric Nephrology (ACPN), which will be held in Dubai, United Arab Emirates.
- Published
- 2023
- Full Text
- View/download PDF
26. 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, and Klaus, Guenter
- 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. [ABSTRACT FROM AUTHOR]- Published
- 2018
- Full Text
- View/download PDF
27. 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
28. Exome sequencing identifies a likely causative variant in 53% of families with ciliopathy-related features on renal ultrasound after excluding NPHP1 deletions.
- Author
-
Deutsch K, Klämbt V, Kitzler TM, Jobst-Schwan T, Schneider R, Buerger F, Seltzsam S, El Desoky S, Kari JA, Hafeez F, Szczepańska M, Eid LA, Awad HS, Al-Saffar M, Soliman NA, Tasic V, Nicolas-Frank C, Yousef K, Schierbaum LM, Schneider S, Halawi A, Elmubarak I, Lemberg K, Shril S, Mane SM, Rodig N, and Hildebrandt F
- Published
- 2023
- Full Text
- View/download PDF
29. Clinical Factors and Adverse Kidney Outcomes in Children With Antineutrophil Cytoplasmic Antibody-Associated Glomerulonephritis.
- Author
-
Marlais M, Wlodkowski T, Printza N, Kronsteiner D, Krisam R, Sauer L, Aksenova M, Ashoor I, Awan A, Bacchetta J, Balasubramanian R, Basu B, Bekassy Z, Boyer O, Chan EY, Csaicsich D, Decramer S, Dorresteijn E, Drozynska-Duklas M, Eid LA, Espinosa L, Ferraris V, Flögelová H, Forero-Delgadillo J, Gianviti A, Gracchi V, González ML, Hansen M, Hattori M, Hong X, Hooman N, Ivanov D, Kang HG, Karava V, Kazyra I, Lungu A, Marks S, Maxted A, Moczulska A, Müller R, Nastausheva T, Parolin M, Pecoraro C, Principi I, Sanchez-Kazi C, Saygili S, Schild R, Shenoy M, Sinha R, Spizzirri AP, Stack M, Szczepanska M, Tsygin A, Tzeng J, Urbonas V, Zapata C, Zieg J, Schaefer F, Vivarelli M, and Tullus K
- Subjects
- Child, Humans, Kidney, Antibodies, Antineutrophil Cytoplasmic, Glomerulonephritis diagnosis
- Published
- 2023
- Full Text
- View/download PDF
30. Reverse phenotyping facilitates disease allele calling in exome sequencing of patients with CAKUT.
- Author
-
Seltzsam S, Wang C, Zheng B, Mann N, Connaughton DM, Wu CW, Schneider S, Schierbaum L, Kause F, Kolvenbach CM, Nakayama M, Dai R, Ottlewski I, Schneider R, Deutsch K, Buerger F, Klämbt V, Mao Y, Onuchic-Whitford AC, Nicolas-Frank C, Yousef K, Pantel D, Lai EW, Salmanullah D, Majmundar AJ, Bauer SB, Rodig NM, Somers MJG, Traum AZ, Stein DR, Daga A, Baum MA, Daouk GH, Tasic V, Awad HS, Eid LA, El Desoky S, Shalaby M, Kari JA, Fathy HM, Soliman NA, Mane SM, Shril S, Ferguson MA, and Hildebrandt F
- Subjects
- Alleles, Exome genetics, Humans, Kidney abnormalities, Vesico-Ureteral Reflux, Urinary Tract, Urogenital Abnormalities genetics
- Abstract
Purpose: Congenital anomalies of the kidneys and urinary tract (CAKUT) constitute the leading cause of chronic kidney disease in children. In total, 174 monogenic causes of isolated or syndromic CAKUT are known. However, syndromic features may be overlooked when the initial clinical diagnosis of CAKUT is made. We hypothesized that the yield of a molecular genetic diagnosis by exome sequencing (ES) can be increased by applying reverse phenotyping, by re-examining the case for signs/symptoms of the suspected clinical syndrome that results from the genetic variant detected by ES., Methods: We conducted ES in an international cohort of 731 unrelated families with CAKUT. We evaluated ES data for variants in 174 genes, in which variants are known to cause isolated or syndromic CAKUT. In cases in which ES suggested a previously unreported syndromic phenotype, we conducted reverse phenotyping., Results: In 83 of 731 (11.4%) families, we detected a likely CAKUT-causing genetic variant consistent with an isolated or syndromic CAKUT phenotype. In 19 of these 83 families (22.9%), reverse phenotyping yielded syndromic clinical findings, thereby strengthening the genotype-phenotype correlation., Conclusion: We conclude that employing reverse phenotyping in the evaluation of syndromic CAKUT genes by ES provides an important tool to facilitate molecular genetic diagnostics in CAKUT., Competing Interests: Conflict of Interest F.H. is a cofounder and Scientific Advisory Committee member of and holds stocks in Goldfinch-Bio. All other authors declare no conflicts of interest., (Copyright © 2021 American College of Medical Genetics and Genomics. Published by Elsevier Inc. All rights reserved.)
- Published
- 2022
- Full Text
- View/download PDF
31. 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
- Full Text
- View/download PDF
32. Recessive Mutations in SYNPO2 as a Candidate of Monogenic Nephrotic Syndrome.
- Author
-
Mao Y, Schneider R, van der Ven PFM, Assent M, Lohanadan K, Klämbt V, Buerger F, Kitzler TM, Deutsch K, Nakayama M, Majmundar AJ, Mann N, Hermle T, Onuchic-Whitford AC, Zhou W, Margam NN, Duncan R, Marquez J, Khokha M, Fathy HM, Kari JA, El Desoky S, Eid LA, Awad HS, Al-Saffar M, Mane S, Lifton RP, Fürst DO, Shril S, and Hildebrandt F
- Abstract
Introduction: Most of the approximately 60 genes that if mutated cause steroid-resistant nephrotic syndrome (SRNS) are highly expressed in the glomerular podocyte, rendering SRNS a "podocytopathy.", Methods: We performed whole-exome sequencing (WES) in 1200 nephrotic syndrome (NS) patients., Results: We discovered homozygous truncating and homozygous missense mutation in SYNPO2 (synaptopodin-2) (p.Lys1124∗ and p.Ala1134Thr) in 2 patients with childhood-onset NS. We found SYNPO2 expression in both podocytes and mesangial cells; however, notably, immunofluorescence staining of adult human and rat kidney cryosections indicated that SYNPO2 is localized mainly in mesangial cells. Subcellular localization studies reveal that in these cells SYNPO2 partially co-localizes with α-actinin and filamin A-containing F-actin filaments. Upon transfection in mesangial cells or podocytes, EGFP-SYNPO2 co-localized with α-actinin-4, which gene is mutated in autosomal dominant SRNS in humans. SYNPO2 overexpression increases mesangial cell migration rate (MMR), whereas shRNA knockdown reduces MMR. Decreased MMR was rescued by transfection of wild-type mouse Synpo2 cDNA but only partially by cDNA representing mutations from the NS patients. The increased mesangial cell migration rate (MMR) by SYNPO2 overexpression was inhibited by ARP complex inhibitor CK666. SYNPO2 shRNA knockdown in podocytes decreased active Rac1, which was rescued by transfection of wild-type SYNPO2 cDNA but not by cDNA representing any of the 2 mutant variants., Conclusion: We show that SYNPO2 variants may lead to Rac1-ARP3 dysregulation, and may play a role in the pathogenesis of nephrotic syndrome., (© 2020 International Society of Nephrology. Published by Elsevier Inc.)
- Published
- 2020
- Full Text
- View/download PDF
33. Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations.
- Author
-
Connaughton DM, Dai R, Owen DJ, Marquez J, Mann N, Graham-Paquin AL, Nakayama M, Coyaud E, Laurent EMN, St-Germain JR, Blok LS, Vino A, Klämbt V, Deutsch K, Wu CW, Kolvenbach CM, Kause F, Ottlewski I, Schneider R, Kitzler TM, Majmundar AJ, Buerger F, Onuchic-Whitford AC, Youying M, Kolb A, Salmanullah D, Chen E, van der Ven AT, Rao J, Ityel H, Seltzsam S, Rieke JM, Chen J, Vivante A, Hwang DY, Kohl S, Dworschak GC, Hermle T, Alders M, Bartolomaeus T, Bauer SB, Baum MA, Brilstra EH, Challman TD, Zyskind J, Costin CE, Dipple KM, Duijkers FA, Ferguson M, Fitzpatrick DR, Fick R, Glass IA, Hulick PJ, Kline AD, Krey I, Kumar S, Lu W, Marco EJ, Wentzensen IM, Mefford HC, Platzer K, Povolotskaya IS, Savatt JM, Shcherbakova NV, Senguttuvan P, Squire AE, Stein DR, Thiffault I, Voinova VY, Somers MJG, Ferguson MA, Traum AZ, Daouk GH, Daga A, Rodig NM, Terhal PA, van Binsbergen E, Eid LA, Tasic V, Rasouly HM, Lim TY, Ahram DF, Gharavi AG, Reutter HM, Rehm HL, MacArthur DG, Lek M, Laricchia KM, Lifton RP, Xu H, Mane SM, Sanna-Cherchi S, Sharrocks AD, Raught B, Fisher SE, Bouchard M, Khokha MK, Shril S, and Hildebrandt F
- Subjects
- Amphibian Proteins antagonists & inhibitors, Amphibian Proteins genetics, Amphibian Proteins metabolism, Animals, Case-Control Studies, Child, Child, Preschool, DNA-Binding Proteins metabolism, Family, Female, Forkhead Transcription Factors metabolism, Heterozygote, Humans, Infant, Larva genetics, Larva growth & development, Larva metabolism, Male, Mice, Mice, Knockout, Morpholinos genetics, Morpholinos metabolism, Pedigree, Protein Binding, Repressor Proteins metabolism, Transcription Factors metabolism, Urinary Tract abnormalities, Urogenital Abnormalities metabolism, Urogenital Abnormalities pathology, Exome Sequencing, Xenopus, DNA-Binding Proteins genetics, Epigenesis, Genetic, Forkhead Transcription Factors genetics, Mutation, Repressor Proteins genetics, Transcription Factors genetics, Urinary Tract metabolism, Urogenital Abnormalities genetics
- Abstract
Congenital anomalies of the kidney and urinary tract (CAKUT) constitute one of the most frequent birth defects and represent the most common cause of chronic kidney disease in the first three decades of life. Despite the discovery of dozens of monogenic causes of CAKUT, most pathogenic pathways remain elusive. We performed whole-exome sequencing (WES) in 551 individuals with CAKUT and identified a heterozygous de novo stop-gain variant in ZMYM2 in two different families with CAKUT. Through collaboration, we identified in total 14 different heterozygous loss-of-function mutations in ZMYM2 in 15 unrelated families. Most mutations occurred de novo, indicating possible interference with reproductive function. Human disease features are replicated in X. tropicalis larvae with morpholino knockdowns, in which expression of truncated ZMYM2 proteins, based on individual mutations, failed to rescue renal and craniofacial defects. Moreover, heterozygous Zmym2-deficient mice recapitulated features of CAKUT with high penetrance. The ZMYM2 protein is a component of a transcriptional corepressor complex recently linked to the silencing of developmentally regulated endogenous retrovirus elements. Using protein-protein interaction assays, we show that ZMYM2 interacts with additional epigenetic silencing complexes, as well as confirming that it binds to FOXP1, a transcription factor that has also been linked to CAKUT. In summary, our findings establish that loss-of-function mutations of ZMYM2, and potentially that of other proteins in its interactome, as causes of human CAKUT, offering new routes for studying the pathogenesis of the disorder., (Copyright © 2020 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.)
- Published
- 2020
- Full Text
- View/download PDF
34. Whole-Exome Sequencing Identifies Causative Mutations in Families with Congenital Anomalies of the Kidney and Urinary Tract.
- Author
-
van der Ven AT, Connaughton DM, Ityel H, Mann N, Nakayama M, Chen J, Vivante A, Hwang DY, Schulz J, Braun DA, Schmidt JM, Schapiro D, Schneider R, Warejko JK, Daga A, Majmundar AJ, Tan W, Jobst-Schwan T, Hermle T, Widmeier E, Ashraf S, Amar A, Hoogstraaten CA, Hugo H, Kitzler TM, Kause F, Kolvenbach CM, Dai R, Spaneas L, Amann K, Stein DR, Baum MA, Somers MJG, Rodig NM, Ferguson MA, Traum AZ, Daouk GH, Bogdanović R, Stajić N, Soliman NA, Kari JA, El Desoky S, Fathy HM, Milosevic D, Al-Saffar M, Awad HS, Eid LA, Selvin A, Senguttuvan P, Sanna-Cherchi S, Rehm HL, MacArthur DG, Lek M, Laricchia KM, Wilson MW, Mane SM, Lifton RP, Lee RS, Bauer SB, Lu W, Reutter HM, Tasic V, Shril S, and Hildebrandt F
- Subjects
- Animals, Humans, Incidence, Kidney abnormalities, Mice, Phenotype, Prognosis, Risk Assessment, Sensitivity and Specificity, Sex Distribution, Urinary Tract abnormalities, Urogenital Abnormalities epidemiology, Vesico-Ureteral Reflux epidemiology, Genetic Predisposition to Disease epidemiology, Pedigree, Urogenital Abnormalities genetics, Vesico-Ureteral Reflux genetics, Exome Sequencing methods
- Abstract
Background: Congenital anomalies of the kidney and urinary tract (CAKUT) are the most prevalent cause of kidney disease in the first three decades of life. Previous gene panel studies showed monogenic causation in up to 12% of patients with CAKUT., Methods: We applied whole-exome sequencing to analyze the genotypes of individuals from 232 families with CAKUT, evaluating for mutations in single genes known to cause human CAKUT and genes known to cause CAKUT in mice. In consanguineous or multiplex families, we additionally performed a search for novel monogenic causes of CAKUT., Results: In 29 families (13%), we detected a causative mutation in a known gene for isolated or syndromic CAKUT that sufficiently explained the patient's CAKUT phenotype. In three families (1%), we detected a mutation in a gene reported to cause a phenocopy of CAKUT. In 15 of 155 families with isolated CAKUT, we detected deleterious mutations in syndromic CAKUT genes. Our additional search for novel monogenic causes of CAKUT in consanguineous and multiplex families revealed a potential single, novel monogenic CAKUT gene in 19 of 232 families (8%)., Conclusions: We identified monogenic mutations in a known human CAKUT gene or CAKUT phenocopy gene as the cause of disease in 14% of the CAKUT families in this study. Whole-exome sequencing provides an etiologic diagnosis in a high fraction of patients with CAKUT and will provide a new basis for the mechanistic understanding of CAKUT., (Copyright © 2018 by the American Society of Nephrology.)
- Published
- 2018
- Full Text
- View/download PDF
Catalog
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.