Autosomal Recessive Polycystic Kidney Disease Confirmed to PKHD1 Gene Mutation: A Case of PKHD1 Gene Mutation
Neonatal Medicine
;
: 64-68, 2014.
Artículo
en 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:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Conductos Biliares Intrahepáticos
/
Fibrosis
/
Exones
/
Mutación del Sistema de Lectura
/
Riñón Poliquístico Autosómico Recesivo
/
Dilatación
/
Enfermedades Renales Quísticas
/
Riñón
/
Enfermedades Renales Poliquísticas
Idioma:
Coreano
Revista:
Neonatal Medicine
Año:
2014
Tipo del documento:
Artículo
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