Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management--A KDIGO consensus report.

doi:10.1038/ki.2015.28

Article

Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management--A KDIGO consensus report.

Kidney international - 1 Oct 2015

Eckardt Kai-Uwe, Alper Seth L, Antignac Corinne, Bleyer Anthony J, Chauveau Dominique, Dahan Karin, Deltas Constantinos, Hosking Andrew, Kmoch Stanislav, Rampoldi Luca, Wiesener Michael, Wolf Matthias T, Devuyst Olivier

Abstract excerpt

Rare autosomal dominant tubulointerstitial kidney disease is caused by mutations in the genes encoding uromodulin (UMOD), hepatocyte nuclear factor-1β (HNF1B), renin (REN), and mucin-1 (MUC1). Multiple names have been proposed for these disorders, including 'Medullary Cystic Kidney Disease (MCKD) type 2', 'Familial Juvenile Hyperuricemic Nephropathy (FJHN)', or 'Uromodulin-Associated Kidney Disease (UAKD)' for...

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Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management--A KDIGO consensus report.

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