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1. Bardet-Biedl syndrome improved diagnosis criteria and management: Inter European Reference Networks consensus statement and recommendations

Author

Dollfus, Hélène, Lilien, Marc R., Maffei, Pietro, Verloes, Alain, Muller, Jean, Bacci, Giacomo M., Cetiner, Metin, van den Akker, Erica L. T., Grudzinska Pechhacker, Monika, Testa, Francesco, Lacombe, Didier, Stokman, Marijn F., Simonelli, Francesca, Gouronc, Aurélie, Gavard, Amélie, van Haelst, Mieke M., Koenig, Jens, Rossignol, Sylvie, Bergmann, Carsten, Zacchia, Miriam, Leroy, Bart P., Mosbah, Héléna, Van Eerde, Albertien M., Mekahli, Djalila, Servais, Aude, Poitou, Christine, and Valverde, Diana

Published
2024
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4. Clinical practice recommendations for kidney involvement in tuberous sclerosis complex: a consensus statement by the ERKNet Working Group for Autosomal Dominant Structural Kidney Disorders and the ERA Genes & Kidney Working Group

Author

Mekahli, Djalila, Müller, Roman-Ulrich, Marlais, Matko, Wlodkowski, Tanja, Haeberle, Stefanie, de Argumedo, Marta López, Bergmann, Carsten, Breysem, Luc, Fladrowski, Carla, Henske, Elizabeth P., Janssens, Peter, Jouret, François, Kingswood, John Christopher, Lattouf, Jean-Baptiste, Lilien, Marc, Maleux, Geert, Rozenberg, Micaela, Siemer, Stefan, Devuyst, Olivier, Schaefer, Franz, Kwiatkowski, David J., Rouvière, Olivier, and Bissler, John

Published
2024
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6. Renal and Extrarenal Phenotypes in Patients With HNF1B Variants and Chromosome 17q12 Microdeletions

Author

Ariceta, Gema, Benetti, Elisa, Benz, Marcus R., Bjerre, Anna, Boudailliez, Bernard R., Bouts, Antonia, Drube, Jens, Gjerstad, Ann Christin, Jankauskiene, Augustina, Jávorszky, Eszter, Jay, Nadine, Kirschstein, Martin, Varda, Nataša Marčun, Niel, Olivier, Nobili, François, Pietrement, Christine, Ruzgiene, Dovile, Schild, Raphael, Staude, Hagen, Tory, Kálmán, Tsimaratos, Michel, Walden, Ulrike, Zappel, Hildegard, Buffin-Meyer, Bénédicte, Richard, Juliette, Guigonis, Vincent, Weber, Stefanie, König, Jens, Heidet, Laurence, Moussaoui, Nabila, Vu, Jeanne-Pierrette, Faguer, Stanislas, Casemayou, Audrey, Prakash, Richa, Baudouin, Véronique, Hogan, Julien, Alexandrou, Demi, Bockenhauer, Detlef, Bacchetta, Justine, Ranchin, Bruno, Pruhova, Stepanka, Zieg, Jakub, Lahoche, Annie, Okorn, Christine, Antal-Kónya, Violetta, Morin, Denis, Becherucci, Francesca, Habbig, Sandra, Liebau, Max C., Mauras, Mathilde, Nijenhuis, Tom, Llanas, Brigitte, Mekahli, Djalila, Thumfart, Julia, Tönshoff, Burkhard, Massella, Laura, Eckart, Philippe, Cloarec, Sylvie, Cruz, Alejandro, Patzer, Ludwig, Roussey, Gwenaelle, Vrillon, Isabelle, Dunand, Olivier, Bessenay, Lucie, Taroni, Francesca, Zaniew, Marcin, Louillet, Ferielle, Bergmann, Carsten, Schaefer, Franz, van Eerde, Albertien M., Schanstra, Joost P., and Decramer, Stéphane

Published
2024
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7. A Population Model of Time-Dependent Changes in Serum Creatinine in (Near)term Neonates with Hypoxic-Ischemic Encephalopathy During and After Therapeutic Hypothermia

Author

Krzyzanski, Wojciech, Wintermark, Pia, Annaert, Pieter, Groenendaal, Floris, Şahin, Suzan, Öncel, Mehmet Yekta, Armangil, Didem, Koc, Esin, Battin, Malcolm R., Gunn, Alistair J., Frymoyer, Adam, Chock, Valerie Y.-L., Keles, Elif, Mekahli, Djalila, van den Anker, John, Smits, Anne, and Allegaert, Karel

Published
2024
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12. Heterozygous mutations in the C-terminal domain of COPA underlie a complex autoinflammatory syndrome

Author

Delafontaine, Selket, Iannuzzo, Alberto, Bigley, Tarin M., Mylemans, Bram, Rana, Ruchit, Baatsen, Pieter, Poli, Maria Cecilia, Rymen, Daisy, Jansen, Katrien, Mekahli, Djalila, Casteels, Ingele, Cassiman, Catherine, Demaerel, Philippe, Lepelley, Alice, Fremond, Marie-Louise, Schrijvers, Rik, Vints, Xavier Bossuy Katlijn, Huybrechts, Wim, Tacine, Rachida, Willekens, Karen, Corveleyn, Anniek, Boeckx, Bram, Baggio, Marco, Ehlers, Lisa, Munck, Sebastian, Lambrechts, Diether, Moens, Arnout VoeLeen, Bucciol, Giorgia, Cooper, Megan A., Davis, Carla M., Delon, Jerome, and Meyts, Isabelle

Subjects
Interferon, Family, Autoimmunity, B cells -- Genetic aspects, Health care industry
Abstract

Mutations in the N-terminal WD40 domain of coatomer protein complex subunit a (COPA) cause a type I interferonopathy, typically characterized by alveolar hemorrhage, arthritis, and nephritis. We described 3 heterozygous mutations in the C-terminal domain (CTD) of COPA (p.C1013S, p.R1058C, and p.R1142X) in 6 children from 3 unrelated families with a similar syndrome of autoinflammation and autoimmunity. We showed that these CTD COPA mutations disrupt the integrity and the function of coat protein complex I (COPI). In [COPA.sup.R1142X] and [COPA.sup.R1058C] fibroblasts, we demonstrated that COPI dysfunction causes both an anterograde ER-to-Golgi and a retrograde Golgi-to-ER trafficking defect. The disturbed intracellular trafficking resulted in a cGAS/STING-dependent upregulation of the type I IFN signaling in patients and patient-derived cell lines, albeit through a distinct molecular mechanism in comparison with mutations in the WD40 domain of COPA. We showed that CTD COPA mutations induce an activation of ER stress and NF-[kappa]B signaling in patient-derived primary cell lines. These results demonstrate the importance of the integrity of the CTD of COPA for COPI function and homeostatic intracellular trafficking, essential to ER homeostasis. CTD COPA mutations result in disease by increased ER stress, disturbed intracellular transport, and increased proinflammatory signaling., Introduction The COPA gene encodes coatomer protein complex subunit [alpha] (COPA) (1). COPA was described in 1991 as a coat subunit of Golgi derived non-clathrin-coated vesicles, later termed 'coatomer' (2, [...]

Published
2024
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16. Is autosomal dominant polycystic kidney disease an early sweet disease?

Author

Dachy, Angélique, Decuypere, Jean-Paul, Vennekens, Rudi, Jouret, François, and Mekahli, Djalila

Subjects
Polycystic kidney disease -- Diagnosis -- Development and progression -- Care and treatment, Health
Abstract

The clinical course of autosomal dominant polycystic kidney disease (ADPKD) starts in childhood. Evidence of the beneficial impact of early nephron-protective strategies and lifestyle modifications on ADPKD prognosis is accumulating. Recent studies have described the association of overweight and obesity with rapid disease progression in adults with ADPKD. Moreover, defective glucose metabolism and metabolic reprogramming have been reported in distinct ADPKD models highlighting these pathways as potential therapeutic targets in ADPKD. Several 'metabolic' approaches are currently under evaluation in adults, including ketogenic diet, food restriction, and metformin therapy. No data are available on the impact of these approaches in childhood thus far. Yet, according to World Health Organization (WHO), we are currently facing a childhood obesity crisis with an increased prevalence of overweight/obesity in the pediatric population associated with a cardio-metabolic risk profile. The present review summarizes the knowledge about the role of glucose metabolism in the pathophysiology of ADPKD and underscores the possible harm of overweight and obesity in ADPKD especially in terms of long-term cardiovascular outcomes and renal prognosis., Author(s): Angélique Dachy [sup.1] [sup.2] [sup.3] , Jean-Paul Decuypere [sup.1] , Rudi Vennekens [sup.4] , François Jouret [sup.3] [sup.5] , Djalila Mekahli [sup.1] [sup.6] Author Affiliations: (1) grid.5596.f, 0000 0001 [...]

Published
2022
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20. The wind of change in the management of autosomal dominant polycystic kidney disease in childhood

Author

Gimpel, Charlotte, Bergmann, Carsten, and Mekahli, Djalila

Subjects
Children -- Diseases, Polycystic kidney disease -- Diagnosis -- Development and progression -- Care and treatment, Health
Abstract

Significant progress has been made in understanding the genetic basis of autosomal dominant polycystic kidney disease (ADPKD), quantifying disease manifestations in children, exploring very-early onset ADPKD as well as pharmacological delay of disease progression in adults. At least 20% of children with ADPKD have relevant, yet mainly asymptomatic disease manifestations such as hypertension or proteinuria (in line with findings in adults with ADPKD, where hypertension and cardiovascular damage precede decline in kidney function). We propose an algorithm for work-up and management based on current recommendations that integrates the need to screen regularly for hypertension and proteinuria in offspring of affected parents with different options regarding diagnostic testing, which need to be discussed with the family with regard to ethical and practical aspects. Indications and scope of genetic testing are discussed. Pharmacological management includes renin-angiotensin system blockade as first-line therapy for hypertension and proteinuria. The vasopressin receptor antagonist tolvaptan is licensed for delaying disease progression in adults with ADPKD who are likely to experience kidney failure. A clinical trial in children is currently ongoing; however, valid prediction models to identify children likely to suffer kidney failure are lacking. Non-pharmacological interventions in this population also deserve further study., Author(s): Charlotte Gimpel [sup.1] [sup.2] , Carsten Bergmann [sup.1] [sup.3] , Djalila Mekahli [sup.4] [sup.5] Author Affiliations: (1) grid.5963.9, Department of Internal Medicine IV (Nephrology), Medical Center-University of Freiburg, Faculty [...]

Published
2022
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21. Risk Severity Model for Pediatric Autosomal Dominant Polycystic Kidney Disease Using 3D Ultrasound Volumetry

Author

Breysem, Luc, De Keyzer, Frederik, Schellekens, Pieter, Dachy, Angélique, De Rechter, Stephanie, Janssens, Peter, Vennekens, Rudi, Bammens, Bert, Irazabal, Maria V., Van Ongeval, Chantal, Harris, Peter C., Mekahli, Djalila, Yu, A, Chapman, AB, Oskoui, FF Rahbari, Torres, VE, Chebib, FT, Landsittel, DP, Bennett, WM, Mrug, M, and Bae, KT

Published
2023
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28. Cytopenia in autosomal dominant polycystic kidney disease (ADPKD): merely an association or a disease-related feature with prognostic implications?

Author

Schellekens, Pieter, Roosens, Willem, Meyts, Isabelle, Vennekens, Rudi, Bammens, Bert, and Mekahli, Djalila

Subjects
Erythrocyte disorders -- Diagnosis -- Care and treatment -- Prognosis, Polycystic kidney disease -- Diagnosis -- Care and treatment -- Prognosis, Health
Abstract

Autosomal dominant polycystic kidney disease (ADPKD) is associated with distinct cytopenias in observational studies; the most consistent and strongest association is seen with alternations in the lymphocytic lineages. Although the underlying mechanism of these associations is unclear, it has been hypothesized to be secondary to sequestration of white blood cells in cystic organs, or related to the uremic environment in chronic kidney disease (CKD). However, since mutations in PKD1 or -2 affect several immunomodulating pathways, cytopenia may well be an unrecognized extrarenal manifestation of ADPKD. Furthermore, many important questions on the clinical implications of this finding and the effect on the disease course in these patients are unanswered. In this review article, we provide an overview of the current evidence on cytopenia in ADPKD and explore the underlying mechanisms of this association and its potential prognostic implications. Based on the current literature, we hypothesize that polycystin deficiency can disturb immune cell homeostasis and that cytopenia is thus an intrinsic feature of ADPKD, related to genetic factors. Taken together, these findings warrant further investigation to establish the exact etiology and role of cytopenia in patients with ADPKD., Author(s): Pieter Schellekens [sup.1] [sup.2] , Willem Roosens [sup.3] , Isabelle Meyts [sup.4] [sup.5] , Rudi Vennekens [sup.6] , Bert Bammens [sup.1] [sup.2] , Djalila Mekahli [sup.3] [sup.7] Author Affiliations: [...]

Published
2021
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30. 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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32. Pharmacovigilance of nephrotoxic drugs in neonates:the Pottel method for acute kidney injury detection in ELBW neonates

Author

Dumoulin, Mathilde, Pottel, Hans, Mekahli, Djalila, Laenen, Annouschka, Smits, Anne, Allegaert, Karel, Dumoulin, Mathilde, Pottel, Hans, Mekahli, Djalila, Laenen, Annouschka, Smits, Anne, and Allegaert, Karel

Abstract

Background: Extremely low birth weight (ELBW) neonates (birth weight ≤ 1000 g) are at high risk to develop drug-induced acute kidney injury (AKI). However, we lack a pragmatic detection tool to capture their time-dependent (patho)physiologic serum creatinine (Scr) patterns. Pottel et al. suggested rescaling Scr by dividing Scr with the mean Scr value of the age- and sex-specific reference population. We explored if this Pottel method can detect drug-related nephrotoxicity in ELBW neonates. Methods: A previously reported dataset on Scr changes in ELBW neonates exposed to ibuprofen, amikacin, or vancomycin was updated to calculate Pottel scores for every available Scr value in the first 28 postnatal days. We hereby used previously published postnatal age-specific 50th centile values in an ELBW population. Linear mixed models were applied, analyzing Pottel scores as response variable and continuous time (day), drug exposure, and interaction thereof in the explanatory model. Results: Serum creatinine (n = 3231) observations in 201 ELBW neonates were collected. A statistically significant rise of Pottel scores was observed with ibuprofen starting from postnatal day 4. In addition, a cumulative effect of treatment with mean Pottel scores on day 0 of 1.020 and on day 3 during treatment of 1.106 (95% CI 1.068–1.145, p < 0.001) was observed, corrected for effect of antibiotics. Antibiotic administrations showed a small but statistically significant difference up to postnatal day 5. Conclusions: As rescaled Scr biomarker, the Pottel method showed a clear association with ibuprofen-exposed ELBW neonates, suggesting its applicability as a pragmatic bedside alternative tool to assess nephrotoxicity. Graphical abstract: (Figure presented.)

Published
2024

33. Clinical practice recommendations for kidney involvement in tuberous sclerosis complex: a consensus statement by the ERKNet Working Group for Autosomal Dominant Structural Kidney Disorders and the ERA Genes & Kidney Working Group

Author

Nefrologie, Child Health, Mekahli, Djalila, Müller, Roman-Ulrich, Marlais, Matko, Wlodkowski, Tanja, Haeberle, Stefanie, de Argumedo, Marta López, Bergmann, Carsten, Breysem, Luc, Fladrowski, Carla, Henske, Elizabeth P, Janssens, Peter, Jouret, François, Kingswood, John Christopher, Lattouf, Jean-Baptiste, Lilien, Marc, Maleux, Geert, Rozenberg, Micaela, Siemer, Stefan, Devuyst, Olivier, Schaefer, Franz, Kwiatkowski, David J, Rouvière, Olivier, Bissler, John, Nefrologie, Child Health, Mekahli, Djalila, Müller, Roman-Ulrich, Marlais, Matko, Wlodkowski, Tanja, Haeberle, Stefanie, de Argumedo, Marta López, Bergmann, Carsten, Breysem, Luc, Fladrowski, Carla, Henske, Elizabeth P, Janssens, Peter, Jouret, François, Kingswood, John Christopher, Lattouf, Jean-Baptiste, Lilien, Marc, Maleux, Geert, Rozenberg, Micaela, Siemer, Stefan, Devuyst, Olivier, Schaefer, Franz, Kwiatkowski, David J, Rouvière, Olivier, and Bissler, John

Published
2024

34. A Population Model of Time-Dependent Changes in Serum Creatinine in (Near)term Neonates with Hypoxic-Ischemic Encephalopathy During and After Therapeutic Hypothermia

Author

MS Neonatologie, Brain, Child Health, Regenerative Medicine and Stem Cells, Krzyzanski, Wojciech, Wintermark, Pia, Annaert, Pieter, Groenendaal, Floris, Şahin, Suzan, Öncel, Mehmet Yekta, Armangil, Didem, Koc, Esin, Battin, Malcolm R, Gunn, Alistair J, Frymoyer, Adam, Chock, Valerie Y-L, Keles, Elif, Mekahli, Djalila, van den Anker, John, Smits, Anne, Allegaert, Karel, MS Neonatologie, Brain, Child Health, Regenerative Medicine and Stem Cells, Krzyzanski, Wojciech, Wintermark, Pia, Annaert, Pieter, Groenendaal, Floris, Şahin, Suzan, Öncel, Mehmet Yekta, Armangil, Didem, Koc, Esin, Battin, Malcolm R, Gunn, Alistair J, Frymoyer, Adam, Chock, Valerie Y-L, Keles, Elif, Mekahli, Djalila, van den Anker, John, Smits, Anne, and Allegaert, Karel

Published
2024

39. Characterizing dynamics of serum creatinine and creatinine clearance in extremely low birth weight neonates during the first 6 weeks of life

Author

van Donge, Tamara, Allegaert, Karel, Gotta, Verena, Smits, Anne, Levtchenko, Elena, Mekahli, Djalila, and van den Anker, John

Subjects
Ibuprofen -- Dosage and administration, Birth weight, Low -- Risk factors -- Care and treatment, Creatinine -- Measurement, Infants (Newborn) -- Health aspects -- Physiological aspects, Health
Abstract

Background Characterizing the dynamics of serum creatinine concentrations (Scr) and associated creatinine clearance (CLcr) as a measure of kidney function in extremely low birth weight ([less than or equal to] 1000 g; ELBW) neonates remains challenging. Methods We performed a retrospective study that included longitudinal Scr (enzymatic assay) data from 148 ELBW neonates up to 6 weeks after birth. Change of Scr and inter-individual variability was characterized with nonlinear mixed-effect modeling. Key covariates such as gestational age (GA), mode of delivery (MOD), and treatment with ibuprofen or inotropic agents were investigated. Results A total of 2814 Scr concentrations were analyzed. GA was associated with Scr at birth (higher with advancing GA), and GA and MOD showed an association with postnatal maturation of CLcr (faster clearance increase with advancing GA and after C-section). Small CLcr decrease ([less than or equal to] 5%) was quantified during ibuprofen treatment. For a GA of 27 weeks, mean Scr (estimated CLcr) at birth was 0.61 mg/dl (0.23 ml/min), increasing to 0.87 mg/dl (0.27 ml/min) at day three, and decreasing to 0.36 mg/dl (0.67 ml/min) at day 42 after birth. Conclusions We report the first mathematical model able to characterize Scr and CLcr in ELBW neonates during the first 6 weeks of life in a quantitative manner as a function of GA, MOD, and ibuprofen treatment. This model allows the derivation of GA-adjusted reference ranges for ELBW neonates and provides a rationale for normative Scr concentrations, and as such will help clinicians to further optimize monitoring and treatment decisions in this vulnerable patient population., Author(s): Tamara van Donge [sup.1] , Karel Allegaert [sup.2] [sup.3] [sup.4] , Verena Gotta [sup.1] , Anne Smits [sup.2] [sup.5] , Elena Levtchenko [sup.2] [sup.6] , Djalila Mekahli [sup.2] [sup.6] [...]

Published
2020
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44. A Population Model of Time-Dependent Changes in Serum Creatinine in (Near)term Neonates with Hypoxic-Ischemic Encephalopathy During and After Therapeutic Hypothermia

Author

Krzyzanski, Wojciech, primary, Wintermark, Pia, additional, Annaert, Pieter, additional, Groenendaal, Floris, additional, Şahin, Suzan, additional, Öncel, Mehmet Yekta, additional, Armangil, Didem, additional, Koc, Esin, additional, Battin, Malcolm R., additional, Gunn, Alistair J., additional, Frymoyer, Adam, additional, Chock, Valerie Y.-L., additional, Keles, Elif, additional, Mekahli, Djalila, additional, van den Anker, John, additional, Smits, Anne, additional, and Allegaert, Karel, additional

Published
2023
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47. 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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49. Fundamental insights into autosomal dominant polycystic kidney disease from human-based cell models

Author

Weydert, Caroline, Decuypere, Jean-Paul, De Smedt, Humbert, Janssens, Peter, Vennekens, Rudi, and Mekahli, Djalila

Subjects
Gene mutations -- Research, Polycystic kidney disease -- Risk factors -- Diagnosis, Health
Abstract

Several animal- and human-derived models are used in autosomal dominant polycystic kidney disease (ADPKD) research to gain insight in the disease mechanism. However, a consistent correlation between animal and human ADPKD models is lacking. Therefore, established human-derived models are relevant to affirm research results and translate findings into a clinical set-up. In this review, we give an extensive overview of the existing human-based cell models. We discuss their source (urine, nephrectomy and stem cell), immortalisation procedures, genetic engineering, kidney segmental origin and characterisation with nephron segment markers. We summarise the most studied pathways and lessons learned from these different ADPKD models. Finally, we issue recommendations for the derivation of human-derived cell lines and for experimental set-ups with these cell lines., Author(s): Caroline Weydert [sup.1] , Jean-Paul Decuypere [sup.1] , Humbert De Smedt [sup.2] , Peter Janssens [sup.1] [sup.3] , Rudi Vennekens [sup.4] , Djalila Mekahli [sup.1] [sup.5] Author Affiliations: (Aff1) [...]

Published
2019
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50. Oxidative stress in autosomal dominant polycystic kidney disease: player and/or early predictor for disease progression?

Author

Andries, Asmin, Daenen, Kristien, Jouret, François, Bammens, Bert, Mekahli, Djalila, and Van Schepdael, Ann

Subjects
Children -- Diseases, Oxidative stress -- Research, Pediatric research, Health
Abstract

Autosomal dominant polycystic kidney disease (ADPKD), caused by mutations in PKD1 or PKD2 genes, is the most common hereditary renal disease. Renal manifestations of ADPKD are gradual cyst development and kidney enlargement ultimately leading to end-stage renal disease. ADPKD also causes extrarenal manifestations, including endothelial dysfunction and hypertension. Both of these complications are linked with reduced nitric oxide levels related to excessive oxidative stress (OS). OS, defined as disturbances in the prooxidant/antioxidant balance, is harmful to cells due to the excessive generation of highly reactive oxygen and nitrogen free radicals. Next to endothelial dysfunction and hypertension, there is cumulative evidence that OS occurs in the early stages of ADPKD. In the current review, we aim to summarize the cardiovascular complications and the relevance of OS in ADPKD and, more specifically, in the early stages of the disease. First, we will briefly introduce the link between ADPKD and the early cardiovascular complications including hypertension. Secondly, we will describe the potential role of OS in the early stages of ADPKD and its possible importance beyond the chronic kidney disease (CKD) effect. Finally, we will discuss some pharmacological agents capable of reducing reactive oxygen species and OS, which might represent potential treatment targets for ADPKD., Author(s): Asmin Andries [sup.1] , Kristien Daenen [sup.2] [sup.3] , François Jouret [sup.4] [sup.5] , Bert Bammens [sup.2] [sup.3] , Djalila Mekahli [sup.6] [sup.7] , Ann Van Schepdael [sup.1] Author [...]

Published
2019
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