Characteristic ultrasonic view of the kidneys and pancreas in a neonate with an HNF1B mutation

Abstract

Comorbidities of congenital cystic kidney disease are various, and a definitive diagnosis is sometimes difficult. Mutations in the HNF1B gene found in congenital cystic kidney disease can cause developmental anomalies in multiple organs, including those of the genitourinary system, and produce various phenotypes. We experienced the case of a male, pre-adolescent patient with cystic kidney disease in whom the diagnosis of HNF1B was difficult to perform by ultrasonic examination alone and required the incidental discovery of the loss of the pancreatic tail. Non-kidney-specific complications should be considered in detail when examining cases of congenital cystic kidney disease.