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ATTRv 淀粉样变性患者肝移植后病情恶化及转甲状腺素蛋白稳定剂治疗:携带 Leu58Arg(p.Leu78Arg)TTR 变异。

Deterioration after Liver Transplantation and Transthyretin Stabilizer Administration in a Patient with ATTRv Amyloidosis with a Leu58Arg (p.Leu78Arg) TTR Variant.

机构信息

Department of Neurology and Neurobiology of Aging, Kanazawa University Graduate School of Medical Sciences, Japan.

出版信息

Intern Med. 2022 Aug 1;61(15):2347-2351. doi: 10.2169/internalmedicine.8945-21. Epub 2022 Mar 12.

Abstract

We herein report a 44-year-old Japanese man with hereditary transthyretin amyloidosis (ATTRv amyloidosis) harboring the variant Leu58Arg (p.Leu78Arg) in TTR in whom we conducted an observational study with liver transplantation (LT) and transthyretin (TTR) stabilizers (tafamidis and diflunisal) for 9 years. This patient showed gradual deterioration of sensory, motor, and autonomic neuropathy symptoms after LT. Furthermore, cardiac amyloidosis gradually developed. Although the present case showed deterioration of the symptoms after disease-modifying treatments, LT might be suitable in patients with the same variant if they are young and in good condition due to a long survival after LT.

摘要

我们在此报告一例遗传性转甲状腺素蛋白淀粉样变性(ATTRv 淀粉样变性)的 44 岁日本男性,该患者 TTR 中的变异为 Leu58Arg(p.Leu78Arg),我们对其进行了为期 9 年的肝移植(LT)和转甲状腺素蛋白(TTR)稳定剂(他法米汀和双水杨酯)的观察性研究。该患者在 LT 后表现出感觉、运动和自主神经病症状逐渐恶化。此外,心脏淀粉样变性逐渐发展。尽管本病例在进行疾病修饰治疗后症状恶化,但如果年轻且状况良好,LT 可能适用于具有相同变异的患者,因为 LT 后患者的生存率较长。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/766a/9424092/f8c1a7eab152/1349-7235-61-2347-g001.jpg

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