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Neonatal Med > Volume 21(1); 2014 > Article
Neonatal Medicine 2014;21(1):64-68.
DOI:    Published online April 1, 2014.
Autosomal Recessive Polycystic Kidney Disease Confirmed to PKHD1 Gene Mutation: A Case of PKHD1 Gene Mutation.
Jae Eun Baek, Soon Min Lee, Ho Seon Eun, Min Soo Park, Kook In Park, Ran Namgung, Chul Lee
Division of Neonatology, Department of Pediatrics, Yonsei University College of Medicine, Seoul, Korea.
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.
Key Words: Autosomal recessive polycystic kidney disease; ARPKD; PKHD1


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