A case of anorexia nervosa with hyperbilirubinaemia in a patient homozygous for a mutation in the bilirubin UDP-glucuronosyltransferase gene
A case of anorexia nervosa with hyperbilirubinaemia in a patient homozygous for a mutation in the bilirubin UDP-glucuronosyltransferase gene
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DOI：
10.1007/s004310051143
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发表时间：
1999-07-01
影响因子：
3.6
通讯作者：
Shimada, M
中科院分区：
文献类型：
--
作者：
Maruo, Y;Wada, S;Shimada, M
吉尔伯特综合征被诊断为神经性厌食症和非结合型高胆红素血症的女孩。由于患者处于饥饿和高胆红素血症状态，因此未使用负荷试验进行诊断，而是分析胆红素UDP-葡萄糖醛酸转移酶基因（UGT 1A 1）。该患者是纯合子的错义突变，在核苷酸编号211（211 G-->A：G71 R）处用腺嘌呤取代鸟嘌呤。非结合型高胆红素血症明显由空腹状态引起。UGT 1A 1基因的纯合错义突变被普遍认为是Crigler-Najjar综合征II型的致病基因，而本研究结果证实吉尔伯特综合征也可能是由UGT 1A 1基因的纯合错义突变引起的。结论神经性厌食症患者处于空腹状态，如果患有吉尔伯特综合征，可能会出现中度的高未结合型胆红素血症。对这些病例的基因分析将排除肝损伤。葡萄糖醛酸转移酶基因的纯合错义突变不仅引起Crigler-Najjar综合征II型，而且引起吉尔伯特综合征。
Gilbert syndrome was diagnosed in a girl with anorexia nervosa and unconjugated hyperbilirubinaemia. Since the patient was starved and hyperbilirubinaemic, the loading test was not used for the diagnosis but analysis of the bilirubin UDP-glucuronosyltransferase gene (UGT1A1) instead. The patient was homozygous for a missense mutation that replaced guanine with adenine at nucleotide number 211 (211G-->A: G71R). The unconjugated hyperbilirubinaemia was apparently induced by the fasting state. Homozygous missense mutations of the gene have been generally recognized as responsible for Crigler-Najjar syndrome type II; the results obtained here, however, confirm that Gilbert syndrome may also be caused by a homozygous missense mutation of UGT1A1.Conclusion Since anorexia nervosa patients are in a fasting state, they may show moderate unconjugated hyperbilirubinaemia if they have Gilbert syndrome. Gene analysis of such cases will rule out hepatic damage. Homozygous missense mutations of the bilirubin-UDP-glucuronosyltransferase gene cause not only Crigler-Najjar syndrome type II but also Gilbert syndrome.