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.
10.3346/jkms.2018.33.e324
- Author:
Jeana HONG
1
;
Seak Hee OH
;
Han Wook YOO
;
Hiroshi NITTONO
;
Akihiko KIMURA
;
Kyung Mo KIM
Author Information
1. Department of Pediatrics, Kangwon National University School of Medicine, Chuncheon, Korea.
- Publication Type:Case Report
- Keywords:
Bile Acids and Salts;
Bile Acid Synthesis Defects;
Oxysterol 7-alpha-hydroxylase;
Liver Transplantation
- MeSH:
Bile;
Bile Acids and Salts;
Fatal Outcome;
Fibrosis;
Follow-Up Studies;
Growth and Development;
Hepatitis;
Humans;
Infant*;
Liver;
Liver Diseases;
Liver Failure;
Liver Transplantation;
Living Donors*;
Male;
Mothers;
Spectrum Analysis
- From:Journal of Korean Medical Science
2018;33(51):e324-
- CountryRepublic of Korea
- Language:English
-
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.