Academic Journal
Clinical and genetic characteristics of Dent's disease type 1 in Europe
| العنوان: | Clinical and genetic characteristics of Dent's disease type 1 in Europe |
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| المؤلفون: | Burballa, Carla, Cantero-Recasens, Gerard, Prikhodina, Larisa, Lugani, Francesca, Schlingmann, Karlpeter, Ananin, Petr V., Besouw, Martine, Bockenhauer, Detlef, Madariaga, Leire, Bertholet-Thomas, Aurelia, Taroni, Francesca, Parolin, Mattia, Conlon, Peter, Emma, Francesco, Del Prete, Dorella, Chauveau, Dominique, Koster-Kamphuis, Linda, Fila, Marc, Pasini, Andrea, Castro, Isabel, Colussi, Giacomo, Gil, Marta, Mohidin, Barian, Wlodkowski, Tanja, Schaefer, Franz, Ariceta, Gema |
| المصدر: | DENT study group , Burballa , C , Cantero-Recasens , G , Prikhodina , L , Lugani , F , Schlingmann , K , Ananin , P V , Besouw , M , Bockenhauer , D , Madariaga , L , Bertholet-Thomas , A , Taroni , F , Parolin , M , Conlon , P , Emma , F , Del Prete , D , Chauveau , D , Koster-Kamphuis , L , Fila , M , Pasini , A , Castro , I , Colussi , G , Gil , M , Mohidin , B , Wlodkowski .... |
| سنة النشر: | 2023 |
| المجموعة: | University of Groningen research database |
| مصطلحات موضوعية: | CLCN5 gene, Dent's disease 1 (DD1), low molecular weight proteinuria, nephrocalcinosis, tubulopathy |
| الوصف: | Background. Dent's disease type 1 (DD1) is a rare X-linked nephropathy caused by CLCN5 mutations, characterized by proximal tubule dysfunction, including low molecular weight proteinuria (LMWP), hypercalciuria, nephrolithiasis- nephrocalcinosis, progressive chronic kidney disease (CKD) and kidney failure (KF). Current management is symptomatic and does not prevent disease progression. Here we describe the contemporary DD1 picture across Europe to highlight its unmet needs. Methods. A physician-based anonymous international e-survey supported by several European nephrology networks/societies was conducted. Questions focused on DD1 clinical features, diagnostic procedure and mutation spectra. Results. A total of 207 DD1 male patients were reported; clinical data were available for 163 with confrmed CLCN5 mutations. Proteinuria was the most common manifestation (49.1%). During follow-up, all patients showed LMWP, 66.4% nephrocalcinosis, 44.4% hypercalciuria and 26.4% nephrolithi- asis. After 5.5 years, ≈50% of patients presented with renal dysfunction, 20.7% developed CKD stage ≥3 and 11.1% developed KF. At the last visit, hypercalciuria was more frequent in paedi-atric patients than in adults (73.4% versus 19.0%). Conversely, nephrolithiasis, nephrocalcinosis and renal dysfunction were more prominent in adults. Furthermore, CKD progressed with age. Despite no clear phenotype/genotype correlation, decreased glomerular fltration rate was more frequent in subjects with CLCN5 mutations afecting the pore or CBS domains compared with those with early-stop mutations. Conclusions. Results from this large DD1 cohort confrm previous fndings and provide new insights regarding age and genotype impact on CKD progression. Our data strongly support that DD1 should be considered in male patients with CKD, nephrocalcinosis/hypercalciuria and non-nephrotic pro-teinuria and provide additional support for new research opportunities. |
| نوع الوثيقة: | article in journal/newspaper |
| وصف الملف: | application/pdf |
| اللغة: | English |
| DOI: | 10.1093/ndt/gfac310 |
| الاتاحة: | https://hdl.handle.net/11370/34eb2e89-fd74-4916-a2b9-4bab146f5add https://research.rug.nl/en/publications/34eb2e89-fd74-4916-a2b9-4bab146f5add https://doi.org/10.1093/ndt/gfac310 https://pure.rug.nl/ws/files/825156102/Clinical_and_genetic_characteristics_of_Dent_s_disease_type_1_in_Europe.pdf http://www.scopus.com/inward/record.url?scp=85160874176&partnerID=8YFLogxK |
| Rights: | info:eu-repo/semantics/openAccess |
| رقم الانضمام: | edsbas.5417C9A2 |
| قاعدة البيانات: | BASE |
| DOI: | 10.1093/ndt/gfac310 |
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