| Autor: |
Gonçalves, Francisco, Lisboa-Gonçalves, Pedro, Quental, Rita, Fernandes, Susana, Quental, Sofia, Michel-Calemard, Laurence, Goursaud, Claire, Marques, Sofia, Santos, Joana, Tavares, Isabel, Oliveira, João Paulo |
| Zdroj: |
Nefrología; July-August 2024, Vol. 44 Issue: 4 p576-581, 6p |
| Abstrakt: |
Autosomal dominant tubulointerstitial kidney disease (ADTKD) comprises a heterogeneous group of rare hereditary kidney diseases characterized by family history of progressive chronic kidney disease (CKD) with bland urine sediment, absence of significant proteinuria and normal or small-sized kidneys. Current diagnostic criteria require identification of a pathogenic variant in one of five genes – UMOD, MUC1, REN, HNF1β, SEC61A1. The most prevalent form of ADTKD is uromodulin-associated kidney disease (ADTKD-UMOD). |
| Databáze: |
Supplemental Index |
| Externí odkaz: |
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