家族性淀粉样多神经病中的玻璃体淀粉样变性。1例携带缬氨酸30蛋氨酸转甲状腺素蛋白突变的病例报告。

Vitreous amyloidosis in familial amyloidotic polyneuropathy. Report of a case with the Val30Met transthyretin mutation.

作者信息

Ciulla T A, Tolentino F, Morrow J F, Dryja T P

机构信息

Department of Opthalmology, Harvard Medical School, Boston, Massachusetts, USA.

出版信息

Surv Ophthalmol. 1995 Nov-Dec;40(3):197-206. doi: 10.1016/s0039-6257(95)80026-3.

DOI:10.1016/s0039-6257(95)80026-3

PMID:8599155

Abstract

We present a clinical pathological review of vitreous amyloidosis in a case of familial amyloidotic polyneuropathy, type I. Vitreous opacification was the first manifestation of disease in the proband, who was successfully treated with vitrectomy. The eyes were obtained at autopsy after the patient died from an unrelated cause, and the histopathology is presented here. Analysis of DNA from the pathology specimen revealed the most commonly reported transthyretin mutation, Val30Met. The classification of systemic and ocular amyloidosis as well as the genetics of familial amyloidotic polyneuropathy are briefly reviewed.

摘要

我们对1型家族性淀粉样多神经病患者的玻璃体淀粉样变性进行了临床病理回顾。玻璃体混浊是先证者疾病的首发表现，其通过玻璃体切除术获得成功治疗。患者因无关原因死亡后，在尸检时获取了眼部组织，并在此展示其组织病理学检查结果。对病理标本的DNA分析揭示了最常报道的转甲状腺素蛋白突变，即Val30Met。本文还简要回顾了系统性和眼部淀粉样变性的分类以及家族性淀粉样多神经病的遗传学。