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Neonatal Med. 2014 Feb;21(1):64-68. Korean. Case Report.
Baek JE , Lee SM , Eun HS , Park MS , Park KI , Namgung R , Lee C .
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.

Copyright © 2019. Korean Association of Medical Journal Editors.