3rd Department of Pediatrics, Attikon University Hospital, Athens University, School of Medicine, Athens, Greece.
Eur J Pediatr. 2012 Jan;171(1):11-5. doi: 10.1007/s00431-011-1641-0. Epub 2011 Dec 9.
Gilbert syndrome is a common autosomal dominant hereditary condition with incomplete penetrance and characterized by intermittent unconjugated hyperbilirubinemia in the absence of hepatocellular disease or hemolysis. In patients with Gilbert syndrome, uridine diphosphate-glucuronyl transferase activity is reduced to 30% of the normal, resulting in indirect hyperbilirubinemia. In its typical form, hyperbilirubinemia is first noticed as intermittent mild jaundice in adolescence. However, Gilbert syndrome in combination with other prevailing conditions such as breast feeding, G-6-PD deficiency, thalassemia, spherocytosis, or cystic fibrosis may potentiate severe hyperbilirubinemia and/or cholelithiasis. It may also reduce plasma oxidation, and it may also affect drug metabolism. Although in general the diagnosis of the syndrome is one of exclusion, molecular genetic tests can now be performed when there is a diagnostic problem. The most common genotype of Gilbert syndrome is the homozygous polymorphism A(TA)7TAA in the promoter of the gene for UDP-glucuronosyltransferase 1A1 (UGT1A1), which is a TA insertion into the promoter designated UGT1A1*28. No specific management is necessary as Gilbert syndrome is a benign condition.
Gilbert genotype should be kept in the clinician's mind, at least as a contributor factor, in cases with unexplained indirect hyperbilirubinemia.
吉尔伯特综合征是一种常见的常染色体显性遗传性疾病，其不完全外显，表现为无肝细胞疾病或溶血性疾病时间歇性非结合性高胆红素血症。在吉尔伯特综合征患者中，尿苷二磷酸葡萄糖醛酸基转移酶活性降低至正常的 30%，导致间接性高胆红素血症。在其典型形式中，高胆红素血症首先在青少年时期表现为间歇性轻度黄疸。然而，吉尔伯特综合征与其他流行疾病如母乳喂养、G-6-PD 缺乏、地中海贫血、球形红细胞增多症或囊性纤维化相结合可能会加剧严重的高胆红素血症和/或胆石症。它还可能降低血浆氧化，也可能影响药物代谢。尽管一般来说，该综合征的诊断是排他性的，但当存在诊断问题时，现在可以进行分子遗传测试。吉尔伯特综合征最常见的基因型是基因 UGT1A1 启动子中的纯合子多态性 A(TA)7TAA，即 TA 插入到指定的 UGT1A1*28 启动子中。由于吉尔伯特综合征是一种良性疾病，因此不需要特定的治疗。
在不明原因的间接性高胆红素血症患者中，临床医生应考虑到吉尔伯特基因型，至少将其作为一个促成因素。
