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Diagnosis, management, and prognosis of HNF1B nephropathy in adulthood

Journal title
Kidney international
Publication year
Faguer, S.; Decramer, S.; Chassaing, N.; Bellanne-Chantelot, C.; Calvas, P.; Beaufils, S.; Bessenay, L.; Lengele, J. P.; Dahan, K.; Ronco, P.; Devuyst, O.; Chauveau, D.

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 (

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