Clinical characteristics and gene variants of patients with infantile intrahepatic cholestasis / 中国当代儿科杂志
Chinese Journal of Contemporary Pediatrics
;
(12): 91-97, 2021.
Artigo
em Chinês
| WPRIM
| ID: wpr-879815
ABSTRACT
OBJECTIVE@#To explore the clinical characteristics and genetic findings of patients with infantile intrahepatic cholestasis.@*METHODS@#The clinical data were collected in children who were admitted to the Department of Gastroenterology in Children's Hospital, Capital Institute of Pediatrics from June 2017 to June 2019 and were suspected of inherited metabolic diseases. Next generation sequencing based on target gene panel was used for gene analysis in these children. Sanger sequencing technology was used to verify the genes of the members in this family.@*RESULTS@#Forty patients were enrolled. Pathogenic gene variants were identified in 13 patients (32%), including @*CONCLUSIONS@#The etiology of infantile intrahepatic cholestasis is complex. Next generation sequencing is helpful in the diagnosis of infantile intrahepatic cholestasis.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Testes Genéticos
/
Colestase Intra-Hepática
/
Síndrome de Alagille
/
Citrulinemia
/
Proteínas de Transporte da Membrana Mitocondrial
/
Sequenciamento de Nucleotídeos em Larga Escala
/
Mutação
Tipo de estudo:
Estudo prognóstico
Limite:
Criança
/
Humanos
Idioma:
Chinês
Revista:
Chinese Journal of Contemporary Pediatrics
Ano de publicação:
2021
Tipo de documento:
Artigo
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