Autosomal Recessive Polycystic Kidney Disease Confirmed to PKHD1 Gene Mutation: A Case of PKHD1 Gene Mutation.
- Author:
Jae Eun BAEK
1
;
Soon Min LEE
;
Ho Seon EUN
;
Min Soo PARK
;
Kook In PARK
;
Ran NAMGUNG
;
Chul LEE
Author Information
- Publication Type:Case Report
- Keywords: Autosomal recessive polycystic kidney disease; ARPKD; PKHD1
- MeSH: Bile Ducts, Intrahepatic; Dilatation; Exons; Fibrosis; Frameshift Mutation; Kidney; Kidney Diseases, Cystic; Polycystic Kidney Diseases; Polycystic Kidney, Autosomal Recessive*
- From:Neonatal Medicine 2014;21(1):64-68
- CountryRepublic of Korea
- Language:Korean
- 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.
