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
Oxysterol 7α-hydroxylase deficiency is a very rare liver disease categorized as inborn errors of bile acid synthesis, caused by 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...
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| Published in | Journal of Korean medical science Vol. 33; no. 51; pp. e324 - 6 |
|---|---|
| Main Authors | , , , , , |
| Format | Journal Article |
| Language | English |
| Published |
Korea (South)
The Korean Academy of Medical Sciences
17.12.2018
대한의학회 |
| Subjects | |
| Online Access | Get full text |
| ISSN | 1011-8934 1598-6357 1598-6357 |
| DOI | 10.3346/jkms.2018.33.e324 |
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| Abstract | Oxysterol 7α-hydroxylase deficiency is a very rare liver disease categorized as inborn errors of bile acid synthesis, caused by
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-Δ
-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
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. |
|---|---|
| AbstractList | Oxysterol 7α-hydroxylase deficiency is a very rare liver disease categorized as inborn errors of bile acid synthesis, caused by
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-Δ
-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
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. 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. KCI Citation Count: 0 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.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. 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. |
| Author | Oh, Seak Hee Kimura, Akihiko Yoo, Han-Wook Kim, Kyung Mo Hong, Jeana Nittono, Hiroshi |
| AuthorAffiliation | 3 Junshin Clinic Bile Acid Institute, Tokyo, Japan 2 Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Korea 4 Department of Pediatrics and Child Health, Kurume University School of Medicine, Kurume, Japan 1 Department of Pediatrics, Kangwon National University School of Medicine, Chuncheon, Korea |
| AuthorAffiliation_xml | – name: 3 Junshin Clinic Bile Acid Institute, Tokyo, Japan – name: 4 Department of Pediatrics and Child Health, Kurume University School of Medicine, Kurume, Japan – name: 1 Department of Pediatrics, Kangwon National University School of Medicine, Chuncheon, Korea – name: 2 Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Korea |
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| Cites_doi | 10.1016/j.ajhg.2007.10.001 10.5223/pghn.2015.18.1.48 10.1016/S0022-2275(20)32094-0 10.1097/MPG.0000000000001657 10.1111/j.1600-6143.2005.01084.x 10.1097/MPG.0b013e31815a9911 10.1055/s-2007-985073 10.1007/s10545-014-9695-6 10.1172/JCI2962 10.1074/jbc.R109.042168 10.1097/MPG.0000000000001546 10.1007/s10545-010-9259-3 10.1038/ncpgasthep1179 10.1203/00006450-199904010-00022 10.1002/lt.22331 |
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| Keywords | Bile Acid Synthesis Defects Liver Transplantation Oxysterol 7-alpha-hydroxylase Bile Acids and Salts |
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| References | Jahnel (10.3346/jkms.2018.33.e324_ref11) 2017; 64 Kim (10.3346/jkms.2018.33.e324_ref15) 2015; 18 Sundaram (10.3346/jkms.2018.33.e324_ref3) 2008; 5 Kimura (10.3346/jkms.2018.33.e324_ref5) 1999; 45 Wu (10.3346/jkms.2018.33.e324_ref7) 1999; 40 Stiles (10.3346/jkms.2018.33.e324_ref8) 2009; 284 Heubi (10.3346/jkms.2018.33.e324_ref12) 2017; 65 Clayton (10.3346/jkms.2018.33.e324_ref1) 2011; 34 Tsaousidou (10.3346/jkms.2018.33.e324_ref6) 2008; 82 Setchell (10.3346/jkms.2018.33.e324_ref13) 1998; 102 Heubi (10.3346/jkms.2018.33.e324_ref4) 2007; 27 Ueki (10.3346/jkms.2018.33.e324_ref9) 2008; 46 Mizuochi (10.3346/jkms.2018.33.e324_ref10) 2011; 17 Dai (10.3346/jkms.2018.33.e324_ref14) 2014; 37 Morioka (10.3346/jkms.2018.33.e324_ref16) 2005; 5 Craigen (10.3346/jkms.2018.33.e324_ref2) 2018 |
| References_xml | – volume: 82 start-page: 510 issue: 2 year: 2008 ident: 10.3346/jkms.2018.33.e324_ref6 publication-title: Am J Hum Genet doi: 10.1016/j.ajhg.2007.10.001 – volume: 18 start-page: 48 issue: 1 year: 2015 ident: 10.3346/jkms.2018.33.e324_ref15 publication-title: Pediatr Gastroenterol Hepatol Nutr doi: 10.5223/pghn.2015.18.1.48 – volume: 40 start-page: 2195 issue: 12 year: 1999 ident: 10.3346/jkms.2018.33.e324_ref7 publication-title: J Lipid Res doi: 10.1016/S0022-2275(20)32094-0 – volume: 65 start-page: 321 issue: 3 year: 2017 ident: 10.3346/jkms.2018.33.e324_ref12 publication-title: J Pediatr Gastroenterol Nutr doi: 10.1097/MPG.0000000000001657 – volume: 5 start-page: 2754 issue: 11 year: 2005 ident: 10.3346/jkms.2018.33.e324_ref16 publication-title: Am J Transplant doi: 10.1111/j.1600-6143.2005.01084.x – volume: 46 start-page: 465 issue: 4 year: 2008 ident: 10.3346/jkms.2018.33.e324_ref9 publication-title: J Pediatr Gastroenterol Nutr doi: 10.1097/MPG.0b013e31815a9911 – volume: 27 start-page: 282 issue: 3 year: 2007 ident: 10.3346/jkms.2018.33.e324_ref4 publication-title: Semin Liver Dis doi: 10.1055/s-2007-985073 – volume: 37 start-page: 851 issue: 5 year: 2014 ident: 10.3346/jkms.2018.33.e324_ref14 publication-title: J Inherit Metab Dis doi: 10.1007/s10545-014-9695-6 – volume: 102 start-page: 1690 issue: 9 year: 1998 ident: 10.3346/jkms.2018.33.e324_ref13 publication-title: J Clin Invest doi: 10.1172/JCI2962 – volume: 284 start-page: 28485 issue: 42 year: 2009 ident: 10.3346/jkms.2018.33.e324_ref8 publication-title: J Biol Chem doi: 10.1074/jbc.R109.042168 – volume: 64 start-page: 864 issue: 6 year: 2017 ident: 10.3346/jkms.2018.33.e324_ref11 publication-title: J Pediatr Gastroenterol Nutr doi: 10.1097/MPG.0000000000001546 – volume: 34 start-page: 593 issue: 3 year: 2011 ident: 10.3346/jkms.2018.33.e324_ref1 publication-title: J Inherit Metab Dis doi: 10.1007/s10545-010-9259-3 – volume-title: Rudolph's Pediatrics year: 2018 ident: 10.3346/jkms.2018.33.e324_ref2 – volume: 5 start-page: 456 issue: 8 year: 2008 ident: 10.3346/jkms.2018.33.e324_ref3 publication-title: Nat Clin Pract Gastroenterol Hepatol doi: 10.1038/ncpgasthep1179 – volume: 45 start-page: 603 issue: 4 Pt 1 year: 1999 ident: 10.3346/jkms.2018.33.e324_ref5 publication-title: Pediatr Res doi: 10.1203/00006450-199904010-00022 – volume: 17 start-page: 1059 issue: 9 year: 2011 ident: 10.3346/jkms.2018.33.e324_ref10 publication-title: Liver Transpl doi: 10.1002/lt.22331 |
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| Snippet | Oxysterol 7α-hydroxylase deficiency is a very rare liver disease categorized as inborn errors of bile acid synthesis, caused by
mutations. As it may cause... 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... |
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| Title | 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 |
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