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端粒病中的多次实体器官移植:病例系列和文献复习。

Multiple Solid Organ Transplantation in Telomeropathy: Case Series and Literature Review.

机构信息

Department of Respiratory Diseases, University Hospitals Leuven.

Department of Gastroenterology and Hepatology, University Hospitals Leuven.

出版信息

Transplantation. 2018 Oct;102(10):1747-1755. doi: 10.1097/TP.0000000000002198.

Abstract

BACKGROUND

Solid organ transplantation is a valid treatment option for selected patients with organ failure due to an underlying telomeropathy; however, the feasibility of multiple-organ transplantation if several organs are compromised is unclear.

METHODS

We describe 2 patients with telomeropathy due to heterozygous telomerase RNA component or telomerase reverse transcriptase mutation, who successfully underwent serial or combined liver and lung transplantation for concurrent liver fibrosis/cirrhosis and pulmonary fibrosis.

RESULTS

Despite a challenging posttransplant course, long-term outcomes were favorable, with both patients doing fine now, respectively, 12/20 and 24 months after multiple-organ transplantation.

CONCLUSIONS

To our knowledge, this is the first report of multiple solid organ transplantation in documented telomeropathy. These cases highlight current difficulties of timely diagnosis, therapeutic approach, and postoperative complications in telomeropathy patients in whom several organs are affected.

摘要

背景

对于因潜在端粒病导致器官衰竭的选定患者,实体器官移植是一种有效的治疗选择;然而,如果有多个器官受损,多次器官移植的可行性尚不清楚。

方法

我们描述了 2 例因端粒酶 RNA 成分或端粒酶逆转录酶突变的杂合子导致的端粒病患者,他们成功地进行了连续或联合的肝和肺移植,以治疗同时存在的肝纤维化/肝硬化和肺纤维化。

结果

尽管移植后经历了一段具有挑战性的过程,但长期结果良好,两名患者分别在多次器官移植后 12/20 个月和 24 个月后情况良好。

结论

据我们所知,这是首例有记录的端粒病多次实体器官移植的报告。这些病例突出了目前在多个器官受累的端粒病患者中,及时诊断、治疗方法和术后并发症方面存在的困难。

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