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
in English
| 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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Spectrum Analysis
/
Bile
/
Fibrosis
/
Bile Acids and Salts
/
Follow-Up Studies
/
Liver Transplantation
/
Liver Failure
/
Fatal Outcome
/
Living Donors
/
Growth and Development
Type of study:
Observational study
/
Prognostic study
Limits:
Humans
/
Infant
/
Male
Language:
English
Journal:
Journal of Korean Medical Science
Year:
2018
Type:
Article
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