Autosomal Recessive Polycystic Kidney Disease Confirmed to PKHD1 Gene Mutation: A Case of PKHD1 Gene Mutation
Neonatal Medicine
;
: 64-68, 2014.
Artigo
em Coreano
| 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.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Ductos Biliares Intra-Hepáticos
/
Fibrose
/
Éxons
/
Mutação da Fase de Leitura
/
Rim Policístico Autossômico Recessivo
/
Dilatação
/
Doenças Renais Císticas
/
Rim
/
Doenças Renais Policísticas
Idioma:
Coreano
Revista:
Neonatal Medicine
Ano de publicação:
2014
Tipo de documento:
Artigo
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