Survival After Transplantation in Patients With Mutations Other Than Val30Met: Extracts From the FAP World Transplant Registry.
Survival After Transplantation in Patients With Mutations Other Than Val30Met: Extracts From the FAP World Transplant Registry.
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DOI：
10.1097/tp.0000000000001021
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发表时间：
2016-02
期刊：
影响因子：
6.2
通讯作者：
FAPWTRʼs investigators
中科院分区：
文献类型：
--
作者：
Suhr OB;Larsson M;Ericzon BG;Wilczek HE;FAPWTRʼs investigators
自1990年以来，肝移植（LTx）已被用于治疗遗传性甲状腺素运载蛋白淀粉样变性（ATTR）。有Val 30 Met突变的LTx ATTR患者的相对较大系列的结局可用，但对于非Val 30 Met患者，仅存在少数患者的少数报告。在这里，我们介绍了非Val 30 Met ATTR患者在LTx后的结局，报告给家族性淀粉样多发性神经病世界移植登记处（FAPWTR）。提取了登记研究报告的所有非Val 30 Met患者的结局数据。生存率采用Kaplan-Meier法和log-rank检验进行分析。登记研究中非Val 30 Met突变的患者总数为264例（174例男性和90例女性），代表57种突变。9种最常见突变的10年生存率差异显著，从Ser 50 Arg的21%到Val 71 Ala的85%。除了Tyr 114 Cys突变的患者外，所有突变伴软脑膜并发症的患者的生存率均较差。相对于不同的突变和具有相似表型的突变之间，观察到存活率的巨大差异。Leu 111 Met、Val 71 Ala和Leu 58 His等突变的存活率很高。除Val 30 Met以外的突变患者不是一个同质组，应谨慎使用或避免使用术语非Val 30 Met。此外，对于几种突变，数据过于有限，无法评估LTx的疗效，持续的国际合作对于获得治疗指导非常重要。
Liver transplantation (LTx) has been performed for hereditary transthyretin amyloidosis (ATTR) since 1990. Outcomes for a relatively large series of LTx ATTR patients with the Val30Met (mutation are available, but for non-Val30Met patients, only a few reports with a small number of patients exist. Here, we present outcomes for non-Val30Met ATTR patients after LTx, as reported to the Familial Amyloid Polyneuropathy World Transplant Registry (FAPWTR). Data regarding outcome were extracted for all non-Val30Met patients reported to the registry. Survival rates were analyzed by the Kaplan-Meier method and log-rank test. The total number of patients with a non-Val30Met mutation in the registry was 264 (174 men and 90 women), representing 57 mutations. The 10-year survival varied markedly for the 9 most common mutations, ranging from 21% for Ser50Arg to 85% for Val71Ala. Poor survival was noted for all mutations with leptomeningeal complications except for those with the Tyr114Cys mutation. Large differences in survival were observed relative to different mutations and between mutations with similar phenotypes. Excellent survival was noted for mutations, such as Leu111Met, Val71Ala, and Leu58His. Patients with mutations other than Val30Met are not a homogeneous group, and the term non-Val30Met should be used with caution or avoided. Moreover, for several mutations, data are too limited to allow evaluation of the efficacy of LTx, and continuous international collaboration is important for obtaining treatment guidance.