Diagnosis, management, and prognosis of HNF1B nephropathy in adulthood

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 nephropathy is typically bilateral cystic hypodysplasia childhood, adult phenotype poorly described. To help define this we evaluated clinical presentation, imaging findings, genetic changes, progression 27 adults from 20 families nephropathy. Whole-gene deletion was found 11 families, point mutations 9, de novo half kindred tested. Renal involvement extremely heterogeneous, tubulointerstitial profile at presentation slowly progressive decline throughout adulthood as hallmarks disease. In 24 patients tested, there were cysts (≤5 per kidney) 15, solitary kidney 5, hypokalemia 11, hypomagnesemia 10 16 all characteristics pointing to Two presented Fanconi syndrome and, overall, 4 progressed end-stage failure. Extrarenal phenotypes consisted mellitus 13 patients, MODY, abnormal liver tests 8 21, diverse genital tract abnormalities 5 females, infertility 2 14 males. Thus, our findings provide data that useful recognition diagnosis might management counseling.