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Progressive familial intrahepatic cholestasis / 中国小儿急救医学
Chinese Pediatric Emergency Medicine ; (12): 490-493, 2020.
Artículo en Chino | WPRIM | ID: wpr-864948
ABSTRACT
Progressive familial intrahepatic cholestasis (PFIC) is a rare heterogenous groups of autosomal recessive monogenic disease, resulting in abnormal bile acid formation and secretion.According to the type of gene mutation, PFIC was classified as PFIC 1-6 and more new mutated genes have been identified, such as ABCC12, VPS33B, et al, making diagnosis and treatment more accurate.PFIC is characterized by progressive jaundice and pruritus, growth and development disorders, and fat-soluble vitamin deficiency.Except for PFIC3, the level of γ-glutamyl transpeptidase in serum of PFIC is normal, which is an important clue for clinical diagnosis.However, each type of PFIC has its own characteristics such as the age of onset, disease severity, extrahepatic symptoms, and prognosis.With the progress of the disease, it eventually develops into fibrosis, cirrhosis and liver failure.Treatment includes nutrition, medication, partial external/internal biliary diversion, and liver transplantation.Recent studies on transporters and gene therapy have brought new hope to patients with PFIC.
Texto completo: Disponible Índice: WPRIM (Pacífico Occidental) Tipo de estudio: Estudio pronóstico Idioma: Chino Revista: Chinese Pediatric Emergency Medicine Año: 2020 Tipo del documento: Artículo

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Texto completo: Disponible Índice: WPRIM (Pacífico Occidental) Tipo de estudio: Estudio pronóstico Idioma: Chino Revista: Chinese Pediatric Emergency Medicine Año: 2020 Tipo del documento: Artículo