A novel heterozygous frameshift mutation in PKDl causing polycystic kidney disease

摘要

Objective Polycystic kidney disease(PKD),characterized by the presence of progressive fluid-filled cysts in renal mainly,is a lifethreatening genetic disorder which often develops into end-stage renal disease.Inherited pattern of PKD includes autosomal dominant and autosomal recessive.Autosomal dominant PKD is genetically heterozygous involving either of two genes,PKD1 or PKD2.The purpose of this study is to identify a novel frameshift mutation in PKD1 causing polycystic kidney disease.