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首例成功的单纯肝脏移植治疗与端粒酶逆转录酶(TERT)-端粒病相关的肝门静脉硬化症肝硬化。

First Successful Liver-Alone Transplantation for TERT (Telomerase Reverse Transcriptase)-Telomeropathy-Related Hepatoportal Sclerosis Cirrhosis.

作者信息

Mathuram Thiyagarajan Uma, Lee Samuel, Shapiro Amj

机构信息

Hepatobiliary-Pancreatic Surgery and Transplantation, University of Alberta Hospital, Edmonton, CAN.

Gastroenterology, Faculty of Medicine, University of Calgary, Calgary, CAN.

出版信息

Cureus. 2023 Jul 3;15(7):e41296. doi: 10.7759/cureus.41296. eCollection 2023 Jul.

Abstract

Hepatoportal sclerosis is a rare but well-described condition leading to end-stage liver disease. Telomeropathy is a rare genetic disorder which manifests as premature senescence of cells leading to multisystem disease involving bone marrow, lungs and skin. To the best of our knowledge, there is no report of telomeropathy precipitating end-stage liver disease. Our case presented hepatopulmonary syndrome. Herein, we report a successful liver transplantation in a patient who suffered hepatoportal cirrhosis from telomerase reverse transcriptase (TERT)-telomeropathy.

摘要

肝门脉硬化是一种罕见但已被充分描述的导致终末期肝病的病症。端粒病是一种罕见的遗传性疾病,表现为细胞过早衰老,导致涉及骨髓、肺和皮肤的多系统疾病。据我们所知,尚无端粒病引发终末期肝病的报道。我们的病例表现为肝肺综合征。在此,我们报告一例因端粒酶逆转录酶(TERT)-端粒病导致肝门脉肝硬化患者成功进行肝移植的病例。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/dadd/10394478/e3ac3b61dca3/cureus-0015-00000041296-i01.jpg

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