Living related donor liver transplantation for infant with Crigler-Najjar syndrome type Ⅰ: a report of one case and literature review
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摘要:
目的 总结克里格勒-纳贾尔综合征(CNS)Ⅰ型的亲属活体肝移植治疗效果。 方法 1例男性3月龄患儿,出生后4 d无明显诱因下出现皮肤、巩膜进行性黄染,完善相关检查后排除其他诱因,并经基因检测鉴定为CNS Ⅰ型。其母亲作为供者,行亲属活体肝移植术。术后常规应用免疫抑制方案,并根据生化指标及受者细胞色素P450(CYP)3A5基因型调整他克莫司剂量。 结果 受者术后7 d肝酶恢复正常,胆红素逐日下降并于术后22 d降至正常范围。随访至投稿日,受者皮肤巩膜黄染褪去,胆红素正常,肝酶稳定,一般情况佳,生活质量高。 结论 活体肝移植可治疗CNS Ⅰ型所带来的高非结合胆红素血症等病症,极大提高患者的生活质量。 -
关键词:
- 肝移植 /
- Crigler-Najjar综合征 /
- 丙氨酸转氨酶 /
- 天冬氨酸转氨酶 /
- 总胆红素 /
- 胆红素脑病 /
- 细胞色素P450(CYP)3A5
Abstract:Objective To summarize the therapeutic effects of living related donor liver transplantation for Crigler-Najjar syndrome type Ⅰ (CNS type Ⅰ). Methods A 3-month-old male infant had appeared a progressive xanthochromia of the skin and sclera 4 d after birth without obvious cause. Other causative factors were eliminated after relevant tests were completed, and identified as CNS type Ⅰ by genetic testing. Living related donor liver transplantation was performed with his mother as the donor. An immunosuppression regimen was routinely applied postoperatively and tacrolimus doses were adjusted according to biochemical indicators and cytochrome P450 (CYP) 3A5 genotype of the recipient. Results The liver enzymes of the recipient returned to normal at 7 d postoperatively, and bilirubin decreased daily and fell to the normal range at 22 d postoperatively. Followed up to the submission date, the recipient's xanthochromia of skin and scleral faded with normal bilirubin and stable liver enzymes. The condition of the recipient was generally good with high quality of life. Conclusions Living donor liver transplantation can treat unconjugated hyperbilirubinemia and other diseases caused by CNS type Ⅰ, which greatly improve the quality of life of patients. -
表 1 肝移植治疗CNS Ⅰ型患者的预后
Table 1. Prognosis of CNS Ⅰ patients treated with liver transplantation
研究作者 年份 手术方式 原发病(n) 存活率(%) 1年 5年 10年 其他 Adam R, et al[20] 2012 OLT、LDLT、ALT、DLT CNS(59) 88、97① 79、92① 79、92① 79、92(15年)① 86、100② 76、95② — — Arnon R, et al[21] 2010 OLT、LDLT、ALT 代谢性肝病(446)包括CNS(21) 94.6 88.9 — — Sze YK, et al[22] 2009 OLT、LDLT、ALT 代谢性肝病(96)包括CNS Ⅰ(11) 83、91③ 77、86③ 62、82③ — Strauss KA, et al[23] 2006 OLT CNS Ⅰ(4)CNS Ⅱ(1) — — — 100(16年) Ozçay F, et al[24] 2009 LDLT CNS Ⅰ(4) 75 — — — Morioka D, et al[25] 2005 LDLT 代谢性肝病(46)包括CNS Ⅰ(2) 86.9 81.2 81.2 — Morioka D, et al[26] 2005 LDLT 代谢性肝病(21)包括CNS Ⅰ(2) 85.7 85.7 — — Valmiki S, et al[27] 2020 LDLT CNS Ⅰ(1) 100 — — — Rela M, et al[28] 1999 ALT CNS Ⅰ(6) 100 — — — Shanmugam NP, et al[29] 2019 ALT 代谢性肝病(13)包括CNS(5) 100 100 — — Celik N, et al[30] 2019 DLT 代谢性肝病(4)包括CNS(2) 100 — — — 注:①为1988年至2009年移植物、受者存活率。
②为1999年至2009年移植物、受者存活率。
③为移植物、受者存活率。
④—为无数据。 -
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