ESPE Abstracts

Introduction: Polycystic kidney and diabetes syndrome (PCKDD) is an autosomal dominantly inherited disorder caused by HNF-1B mutations associated with a heterogeneous multisystemic phenotype mainly affecting kidney and pancreas, resulting in highly variable nephropathies, and frequently, diabetes diagnosed before the age of 25 yrs. Pancreatic hypoplasia, malformations in the genital tract and hepatic dysfunction may also be observed.<str...