HNF1B nephropathy has a slow-progressive phenotype in childhood—with the exception of very early onset cases: results of the German Multicenter HNF1B Childhood Registry

Abstract excerpt

HNF1B gene mutations are an important cause of bilateral (cystic) dysplasia in children, complicated by chronic renal insufficiency. The clinical variability, the absence of genotype-phenotype correlations, and limited long-term data render counseling of affected families difficult. Longitudinal data of 62 children probands with genetically proven HNF1B nephropathy was obtained in a multicenter approach. Genetic...

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