Autosomal Recessive Polycystic Kidney Disease Confirmed to PKHD1 Gene Mutation: A Case of PKHD1 Gene Mutation
Neonatal Medicine
;
: 64-68, 2014.
Article
in Korean
| WPRIM
| ID: wpr-43776
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Bile Ducts, Intrahepatic
/
Fibrosis
/
Exons
/
Frameshift Mutation
/
Polycystic Kidney, Autosomal Recessive
/
Dilatation
/
Kidney Diseases, Cystic
/
Kidney
/
Polycystic Kidney Diseases
Language:
Korean
Journal:
Neonatal Medicine
Year:
2014
Type:
Article
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