Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA.
Division of Transplant Surgery, Department of Surgery, University of Pennsylvania, Philadelphia, PA.
Transplantation. 2019 Jun;103(6):1175-1180. doi: 10.1097/TP.0000000000002493.
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.
This single-center retrospective cohort study compared donor and recipient outcomes of A1AT heterozygous versus normal phenotype adult living-donor liver transplants (LDLTs).
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.
Patients with a heterozygous A1AT mutation should be considered for living-liver donation.
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。
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。
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。
杂合子 A1AT 突变患者应考虑活体供肝移植。