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Autosomal Recessive Polycystic Kidney Disease Confirmed to PKHD1 Gene Mutation: A Case of PKHD1 Gene Mutation

Other Titles
 유전자 돌연변이로 확진된 상염색체 열성 다낭신질환 신생아 1례 
 Jae Eun Baek  ;  Soon Min Lee  ;  Ho Seon Eun  ;  Min Soo Park  ;  Kook In Park  ;  Ran Namgung  ;  Chul Lee 
 Neonatal Medicine, Vol.21(1) : 64-68, 2014 
Journal Title
 Neonatal Medicine 
Issue Date
Autosomal recessive polycystic kidney disease ; ARPKD ; PKHD1
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.
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1. College of Medicine (의과대학) > Dept. of Pediatrics (소아청소년과학교실) > 1. Journal Papers
Yonsei Authors
Namgung, Ran(남궁란) ORCID logo https://orcid.org/0000-0001-7182-9535
Park, Kook In(박국인) ORCID logo https://orcid.org/0000-0001-8499-9293
Park, Min Soo(박민수) ORCID logo https://orcid.org/0000-0002-4395-9938
Baek, Jae Eun(백재은)
Eun, Ho Seon(은호선) ORCID logo https://orcid.org/0000-0001-7212-0341
Lee, Soon Min(이순민) ORCID logo https://orcid.org/0000-0003-0174-1065
Lee, Chul(이철)
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