Article
Diagnosis, management, and prognosis of HNF1B nephropathy in adulthood.
Kidney international - 1 Oct 2011
Faguer Stanislas, Decramer Stéphane, Chassaing Nicolas, Bellanné-Chantelot Christine, Calvas Patrick, Beaufils Sandrine, Bessenay Lucie, Lengelé Jean-Philippe, Dahan Karine, Ronco Pierre, Devuyst Olivier, Chauveau Dominique
Abstract excerpt
Mutations in HNF1B are responsible for a dominantly inherited disease with renal and nonrenal consequences, including maturity-onset diabetes of the young (MODY) type 5. While HNF1B nephropathy is typically responsible for bilateral renal cystic hypodysplasia in childhood, the adult phenotype is poorly described. To help define this we evaluated the clinical presentation, imaging findings, genetic changes, and...
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