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- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2018.1
- 수록면
- 1 - 6 (6page)
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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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참고문헌 (16)
참고문헌 신청
Clayton PT / 2011 / Disorders of bile acid synthesis / J Inherit Metab Dis 34(3):593~604
Craigen WJ / 2018 / Rudolph's Pediatrics / McGraw-Hill Education
Sundaram SS / 2008 / Mechanisms of disease: inborn errors of bile acid synthesis / Nat Clin Pract Gastroenterol Hepatol 5(8):456~468
Heubi JE / 2007 / Inborn errors of bile acid metabolism / Semin Liver Dis 27(3):282~294
Kimura A / 1999 / Profile of urinary bile acids in infants and children: developmental pattern of excretion of unsaturated ketonic bile acids and 7beta-hydroxylated bile acids / Pediatr Res 45(4):603~609
Craigen WJ / 2018 / Rudolph's Pediatrics / McGraw-Hill Education
Sundaram SS / 2008 / Mechanisms of disease: inborn errors of bile acid synthesis / Nat Clin Pract Gastroenterol Hepatol 5(8):456~468
Heubi JE / 2007 / Inborn errors of bile acid metabolism / Semin Liver Dis 27(3):282~294
Kimura A / 1999 / Profile of urinary bile acids in infants and children: developmental pattern of excretion of unsaturated ketonic bile acids and 7beta-hydroxylated bile acids / Pediatr Res 45(4):603~609
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