与转甲状腺素蛋白相关的玻璃体TTR遗传性淀粉样变性。两个意大利家族的临床和分子特征

Transthyretin-related TTR hereditary amyloidosis of the vitreous body. Clinical and molecular characterization in two Italian families.

作者信息

Salvi F, Salvi G, Volpe R, Mencucci R, Plasmati R, Michelucci R, Gobbi P, Santangelo M, Ferlini A, Forabosco A

机构信息

Cattedra di Clinica Neurologia, University of Bologna, Bellaria Hospital, Italy.

出版信息

Ophthalmic Paediatr Genet. 1993 Mar;14(1):9-16. doi: 10.3109/13816819309087617.

DOI:10.3109/13816819309087617

PMID:8345958

Abstract

Two unrelated Italian families affected by hereditary amyloidosis are described. Molecular genetic characterization demonstrated different mutations of the transthyretin gene. In all patients belonging to the TTR Ala 49 family the vitreous body, the heart and the peripheral nervous system were massively infiltrated by amyloid matter. In the TTR Pro 36 family vitreous opacities were the long-standing isolated manifestations of the disease. Two different patterns of vitreous deposits can be observed in these two families. The authors' data support the hypothesis that different pathological transthyretin proteins may have different affinity for the connective tissue in the vitreous.

摘要

本文描述了两个患遗传性淀粉样变性的意大利无关家庭。分子遗传学特征显示转甲状腺素蛋白基因存在不同突变。在所有属于转甲状腺素蛋白Ala 49家族的患者中，玻璃体、心脏和周围神经系统均被淀粉样物质大量浸润。在转甲状腺素蛋白Pro 36家族中，玻璃体混浊是该病长期存在的孤立表现。在这两个家族中可观察到两种不同的玻璃体沉积物模式。作者的数据支持这样的假设，即不同的病理性转甲状腺素蛋白对玻璃体中的结缔组织可能具有不同的亲和力。