• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利:CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验

携带α-1 抗胰蛋白酶基因突变的活体供肝肝移植的结果。

Outcomes of Living-donor Liver Transplantation Using Grafts Heterozygous for α-1 Antitrypsin Gene Mutations.

机构信息

Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA.

Division of Transplant Surgery, Department of Surgery, University of Pennsylvania, Philadelphia, PA.

出版信息

Transplantation. 2019 Jun;103(6):1175-1180. doi: 10.1097/TP.0000000000002493.

DOI:10.1097/TP.0000000000002493
PMID:30335698
Abstract

BACKGROUND

Patients heterozygous for an abnormal α-1 antitrypsin (A1AT) mutation may have an increased risk of liver disease in the setting of a secondary contributing factor.

METHODS

This single-center retrospective cohort study compared donor and recipient outcomes of A1AT heterozygous versus normal phenotype adult living-donor liver transplants (LDLTs).

RESULTS

Between 2010 and 2016, 11 A1AT heterozygous donors and 10 recipients were compared to 57 normal donors and 41 recipients. There were no significant differences in sex, age, or race/ethnicity by A1AT phenotype. Heterozygous donors had significantly lower serum A1AT (median 100 mg/dL versus 131 mg/dL; P < 0.001). Median liver volume at 3 months post-LDLT was not different among donors or their recipients (1164 mm in heterozygous versus 1257 mm in normal [P = 0.449] for donors; 1563 mm versus 1606 mm [P = 0.387], respectively, for recipients). Recipient serum alkaline phosphatase at 1 month and 1 year post-LDLT was significantly higher in recipients of A1AT heterozygous grafts (160 U/L versus 99.5 U/L; P = 0.025 at 1 mo) but did not persist at 2 years. In addition, there was no association between A1AT level and liver volume at 3 months posttransplant in donors or recipients.

CONCLUSIONS

Patients with a heterozygous A1AT mutation should be considered for living-liver donation.

摘要

背景

杂合子携带异常的α-1 抗胰蛋白酶(A1AT)突变的患者在存在次要致病因素的情况下可能会增加患肝病的风险。

方法

这项单中心回顾性队列研究比较了 A1AT 杂合子与正常表型的成人活体供肝移植(LDLT)供者和受者的结局。

结果

2010 年至 2016 年,11 名 A1AT 杂合子供者和 10 名受者与 57 名正常供者和 41 名受者进行了比较。按 A1AT 表型,供者和受者的性别、年龄或种族/民族无显著差异。杂合子供者的血清 A1AT 水平显著降低(中位数 100mg/dL 比 131mg/dL;P<0.001)。3 个月时供者和受者的肝体积中位数无差异(杂合子组为 1164mm,正常组为 1257mm[P=0.449];受者组分别为 1563mm 和 1606mm[P=0.387])。LDLT 后 1 个月和 1 年时,A1AT 杂合子移植物受者的血清碱性磷酸酶水平显著升高(160U/L 比 99.5U/L;P=0.025),但在 2 年内并未持续升高。此外,供者和受者肝移植后 3 个月时,A1AT 水平与肝体积之间无相关性。

结论

杂合子 A1AT 突变患者应考虑活体供肝移植。

相似文献

1
Outcomes of Living-donor Liver Transplantation Using Grafts Heterozygous for α-1 Antitrypsin Gene Mutations.携带α-1 抗胰蛋白酶基因突变的活体供肝肝移植的结果。
Transplantation. 2019 Jun;103(6):1175-1180. doi: 10.1097/TP.0000000000002493.
2
Liver transplantation for alpha 1 antitrypsin deficiency (A1ATD) using a heterozygous donor: Outcomes and review of the literature.使用杂合子供体进行α1抗胰蛋白酶缺乏症(A1ATD)的肝移植:结果及文献综述。
Pediatr Transplant. 2023 Jun;27(4):e14488. doi: 10.1111/petr.14488. Epub 2023 Feb 19.
3
Quantitation of circulating wild-type alpha-1-antitrypsin in heterozygous carriers of the S and Z deficiency alleles.S和Z缺陷等位基因杂合携带者中循环野生型α-1-抗胰蛋白酶的定量分析。
Respir Res. 2015 Aug 5;16(1):96. doi: 10.1186/s12931-015-0256-9.
4
Alpha-1 antitrypsin deficiency: From the lung to the heart?α1-抗胰蛋白酶缺乏症:从肺到心?
Atherosclerosis. 2018 Mar;270:166-172. doi: 10.1016/j.atherosclerosis.2018.01.042. Epub 2018 Jan 31.
5
Reference and interpretive ranges for α(1)-antitrypsin quantitation by phenotype in adult and pediatric populations.成人和儿科人群α(1)-抗胰蛋白酶表型定量的参考和解释范围。
Am J Clin Pathol. 2012 Sep;138(3):398-405. doi: 10.1309/AJCPMEEJK32ACYFP.
6
Massive ascites and the heterozygous alpha 1 antitrypsin (α AT) living related donor liver in the homozygous child.大量腹水以及纯合子患儿中来自杂合子α1抗胰蛋白酶(αAT)活体亲属供肝的情况。
Pediatr Transplant. 2018 Feb;22(1). doi: 10.1111/petr.13075. Epub 2017 Oct 15.
7
Null: A novel α-antitrypsin allele with in cis variants Glu366Lys and Ile100Asn.Null:一种新型α-1 抗胰蛋白酶等位基因,具有顺式变异 Glu366Lys 和 Ile100Asn。
Clin Biochem. 2020 May;79:23-27. doi: 10.1016/j.clinbiochem.2020.02.013. Epub 2020 Feb 19.
8
Alpha-1-antitrypsin molecular testing in Canada: A seven year, multi-centre comparison.加拿大的α-1-抗胰蛋白酶分子检测:一项为期七年的多中心比较研究。
Clin Biochem. 2020 Jul;81:27-33. doi: 10.1016/j.clinbiochem.2020.05.001. Epub 2020 May 6.
9
A rare variant of α 1 antitrypsin mutations detected in Vietnamese children with liver disease.在越南肝病儿童中检测到的 α 1 抗胰蛋白酶突变的罕见变异。
Ann Clin Biochem. 2013 Jul;50(Pt 4):339-44. doi: 10.1177/0004563212473443. Epub 2013 Jun 13.
10
Living-donor liver transplantation at the University of Tokyo, 1996-2011: the impact of HLA matching and a positive crossmatch on long-term survival and tolerance.1996 - 2011年东京大学活体供肝肝移植:HLA配型和阳性交叉配型对长期生存及免疫耐受的影响
Clin Transpl. 2011:223-35.

引用本文的文献

1
Incidental alpha-1-antitrypsin deficiency found in post-transplant liver allografts: Report of two cases.移植后肝脏同种异体移植物中发现的偶发性α-1抗胰蛋白酶缺乏症:两例报告。
Hepatol Forum. 2021 Jan 8;2(1):31-33. doi: 10.14744/hf.2020.2020.0013. eCollection 2021 Jan.
2
Treatment of α-1 antitrypsin deficiency using hepatic-specified cells derived from human-induced pluripotent stem cells.使用源自人诱导多能干细胞的肝脏特异性细胞治疗α-1抗胰蛋白酶缺乏症。
Am J Transl Res. 2021 Apr 15;13(4):2710-2716. eCollection 2021.
3
Living Related Liver Transplantation for Metabolic Liver Diseases in Children.
亲属活体肝移植治疗儿童代谢性肝病。
J Pediatr Gastroenterol Nutr. 2021 Jan 1;72(1):11-17. doi: 10.1097/MPG.0000000000002952.