Neonatal Med.  2014 Feb;21(1):64-68.

Autosomal Recessive Polycystic Kidney Disease Confirmed to PKHD1 Gene Mutation: A Case of PKHD1 Gene Mutation

• Baek JE
• Lee SM
• Eun HS
• Park MS
• Park KI
• Namgung R
• Lee C

Abstract

Autosomal recessive polycystic kidney disease (ARPKD) is a severe form of polycystic kidney disease that is characterized by enlarged kidneys and congenital hepatic fibrosis. The clinical spectrum of this condition shows wide variation. Approximately 30-50% of affected individuals die in the neonatal period, while others survive into adulthood. ARPKD is caused by mutations in the polycystic kidney and hepatic disease 1 (PKHD1) gene on chromosome 6p12, which consists of 86 exons variably assembled into many alternatively spliced transcripts. We report a case of a pathogenic PKHD1 frameshift mutation, c.889_931del43, which was identified using direct full sequencing, associated with enlarged cystic kidneys and dilatation of intrahepatic bile duct, as observed on imaging studies.

Keyword

Autosomal recessive polycystic kidney disease; ARPKD; PKHD1

MeSH Terms

Bile Ducts, Intrahepatic
Dilatation
Exons
Fibrosis
Frameshift Mutation
Kidney
Kidney Diseases, Cystic
Polycystic Kidney Diseases
Polycystic Kidney, Autosomal Recessive*