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.
Article
Dans Anglais
| 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.
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Analyse spectrale
/
Bile
/
Fibrose
/
Acides et sels biliaires
/
Études de suivi
/
Transplantation hépatique
/
Défaillance hépatique
/
Issue fatale
/
Donneur vivant
/
Croissance et développement
Type d'étude:
Étude observationnelle
/
Étude pronostique
Limites du sujet:
Humains
/
Bébé
/
Mâle
langue:
Anglais
Texte intégral:
Journal of Korean Medical Science
Année:
2018
Type:
Article
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