|
KMID : 1039920140210010064
|
|
Neonatal Medicine
2014 Volume.21 No. 1 p.64 ~ p.68
|
|
|
Autosomal Recessive Polycystic Kidney Disease Confirmed to PKHD1 Gene Mutation: A Case of PKHD1 Gene Mutation
|
|
Baek Jae-Eun
Lee Soon-Min
Eun Ho-Sun
Park Min-Soo
Park Kook-In
Namgung Ran
Lee Chul
|
|
|
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
|
|
|
FullTexts / Linksout information
|
|
|
|
|
|
Listed journal information
|
|
 
|