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Case Report
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Neonatal Med. 2014;21(1):64-68. Published online April 1, 2014.
DOI: https://doi.org/10.5385/nm.2014.21.1.64
- Autosomal Recessive Polycystic Kidney Disease Confirmed to PKHD1 Gene Mutation: A Case of PKHD1 Gene Mutation.
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Jae Eun Baek, Soon Min Lee, Ho Seon Eun, Min Soo Park, Kook In Park, Ran Namgung, Chul Lee
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1Division of Neonatology, Department of Pediatrics, Yonsei University College of Medicine, Seoul, Korea. minspark@yuhs.ac
- 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.
Keywords :Autosomal recessive polycystic kidney disease;ARPKD;PKHD1
