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Gilbert’s syndrome – a frequent cause of unconjugated hyperbilirubinemia in children after orthotopic liver transplantation
Author(s) -
Kathemann Simone,
Lainka Elke,
Baba Hideo A.,
Hoyer Peter F.,
Gerner Patrick
Publication year - 2012
Publication title -
pediatric transplantation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.457
H-Index - 69
eISSN - 1399-3046
pISSN - 1397-3142
DOI - 10.1111/j.1399-3046.2012.01662.x
Subject(s) - unconjugated hyperbilirubinemia , liver transplantation , medicine , bilirubin , allele , gastroenterology , gilbert's syndrome , liver disease , transplantation , liver biopsy , glucuronosyltransferase , gene , biopsy , genetics , enzyme , biology , biochemistry , microsome
Kathemann S, Lainka E, Baba HA, Hoyer PF, Gerner P. Gilbert’s syndrome – a frequent cause of unconjugated hyperbilirubinemia in children after orthotopic liver transplantation.
Pediatr Transplantation 2012: 16: 201–204. © 2012 John Wiley & Sons A/S. Abstract: Gilbert’s syndrome is one major cause for unconjugated hyperbilirubinemia in healthy individuals with the prevalence being approximately 3.2–8.6%. It is caused by a mutation in the promoter region of the UGT1A1‐gene with a prolonged TAA‐repeat coding for the enzyme bilirubin UDP‐glucuronosyltransferase (A(TA) 7 TAA allele). After OLT, Gilbert’s disease of the transplanted liver can cause unconjugated hyperbilirubinemia. Therefore, we looked for the presence of A(TA) 7 TAA alleles in pediatric liver transplant recipients with unconjugated hyperbilirubinemia. Laboratory results of 106 pediatric liver transplant recipients (aged 0–17 yr) were evaluated for elevated total bilirubin over 2.0 mg/dL (conjugated bilirubin <30%). In these patients, DNA of the liver graft was extracted from paraffin‐embedded liver biopsy samples formerly taken for diagnostic reasons. The DNA was analyzed for A(TA) 7 TAA alleles in the promoter region of the UGT1A1‐gene. In 4 of 106 pediatric liver transplant recipients we found unconjugated hyperbilirubinemia with total bilirubin above 2.0 mg/dL (conjugated bilirubin <30%). The analysis of the promoter region of the UGT1A1‐gene of the liver grafts showed three homozygous A(TA) 7 TAA alleles (homozygous Gilbert’s syndrome) and one heterozygous A(TA) 7 TAA allele (heterozygous Gilbert’s syndrome). This study shows that pediatric liver transplant recipients with unconjugated hyperbilirubinemia are very likely to have received a liver graft from a donor with Gilbert’s syndrome.