Diagnosis, management, and prognosis of HNF1B nephropathy in adulthood

HNF1B型 医学 内科学 疾病 肾病 糖尿病 肾脏疾病 肾病科 病理 胃肠病学 内分泌学 生物 遗传学 基因 基因表达 同源盒
作者
Stanislas Faguer,Stéphane Decramer,Nicolas Chassaing,Christine Bellanné‐Chantelot,Patrick Calvas,Sandrine Beaufils,Lucie Bessenay,Jean-Philippe Lengelé,Karine Dahan,Pierre Ronco,Olivier Devuyst,Dominique Chauveau
出处
期刊:Kidney International [Elsevier]
卷期号:80 (7): 768-776 被引量:159
标识
DOI:10.1038/ki.2011.225
摘要

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 disease progression in 27 adults from 20 families with HNF1B nephropathy. Whole-gene deletion was found in 11 families, point mutations in 9, and de novo mutations in half of the kindred tested. Renal involvement was extremely heterogeneous, with a tubulointerstitial profile at presentation and slowly progressive renal decline throughout adulthood as hallmarks of the disease. In 24 patients tested, there were cysts (≤5 per kidney) in 15, a solitary kidney in 5, hypokalemia in 11, and hypomagnesemia in 10 of 16 tested, all as characteristics pointing to HNF1B disease. Two patients presented with renal Fanconi syndrome and, overall, 4 progressed to end-stage renal failure. Extrarenal phenotypes consisted of diabetes mellitus in 13 of the 27 patients, including 11 with MODY, abnormal liver tests in 8 of 21, diverse genital tract abnormalities in 5 of 13 females, and infertility in 2 of 14 males. Thus, our findings provide data that are useful for recognition and diagnosis of HNF1B disease in adulthood and might help in renal management and genetic counseling.
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