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Complete Recovery of Oxysterol 7α-Hydroxylase Deficiency by Living Donor Transplantation in a 4-Month-Old Infant: the First Korean Case Report and Literature Review
Journal of Korean Medical Science ; : e324-2018.
Artigo em Inglês | WPRIM | ID: wpr-718401
ABSTRACT
Oxysterol 7α-hydroxylase deficiency is a very rare liver disease categorized as inborn errors of bile acid synthesis, caused by CYP7B1 mutations. As it may cause rapid progression to end-stage liver disease even in early infancy, a high index of suspicion is required to prevent fatal outcomes. We describe the case of a 3-month-old boy with progressive cholestatic hepatitis and severe hepatic fibrosis. After excluding other etiologies for his early liver failure, we found that he had profuse urinary excretion of 3β-monohydroxy-Δ5-bile acid derivatives by gas chromatography/mass spectrometry analysis with dried urine spots on filter paper. He was confirmed to have a compound heterozygous mutation (p.Arg388Ter and p.Tyr469IlefsX5) of the CYP7B1 gene. After undergoing liver transplantation (LT) from his mother at 4 months of age, his deteriorated liver function completely normalized, and he had normal growth and development until the current follow-up at 33 months of age. We report the first Korean case of oxysterol 7α-hydroxylase deficiency in the youngest infant reported to undergo successful living donor LT to date.
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Texto completo: DisponíveL Índice: WPRIM (Pacífico Ocidental) Assunto principal: Análise Espectral / Bile / Fibrose / Ácidos e Sais Biliares / Seguimentos / Transplante de Fígado / Falência Hepática / Evolução Fatal / Doadores Vivos / Crescimento e Desenvolvimento Tipo de estudo: Estudo observacional / Estudo prognóstico Limite: Humanos / Lactente / Masculino Idioma: Inglês Revista: Journal of Korean Medical Science Ano de publicação: 2018 Tipo de documento: Artigo

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Texto completo: DisponíveL Índice: WPRIM (Pacífico Ocidental) Assunto principal: Análise Espectral / Bile / Fibrose / Ácidos e Sais Biliares / Seguimentos / Transplante de Fígado / Falência Hepática / Evolução Fatal / Doadores Vivos / Crescimento e Desenvolvimento Tipo de estudo: Estudo observacional / Estudo prognóstico Limite: Humanos / Lactente / Masculino Idioma: Inglês Revista: Journal of Korean Medical Science Ano de publicação: 2018 Tipo de documento: Artigo