一种导致淀粉样变性的罕见转甲状腺素蛋白变体的基因型-表型相关性

Genotype-Phenotype Correlation of a Rare Transthyretin Variant Causing Amyloidosis.

作者信息

Chaudhary Ammar G, AlReefi Fadi M, Abou Zahr Riad G, Elzeftawy Hossam A, Alghamdi Saleh S, Bushnag Areej A, Al-Maghrabi Jaudah A, Abumansour Iman S

机构信息

Cardiovascular Diseases Department, King Faisal Specialist Hospital and Research Centre, Jeddah, Saudi Arabia.

Department of Adult Cardiology, Almoosa Specialist Hospital, Alhasa, Saudi Arabia.

出版信息

CJC Open. 2022 Oct 1;4(12):1031-1035. doi: 10.1016/j.cjco.2022.09.005. eCollection 2022 Dec.

DOI:10.1016/j.cjco.2022.09.005

PMID:36562013

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9764124/

Abstract

Left ventricular hypertrophy is a common entity with a broad differential diagnosis. We present a case of a middle-aged woman with left ventricular hypertrophy and neuropathy caused by a rare transthyretin variant in the absence of a family history or regional reports of hereditary transthyretin amyloidosis. This report outlines the diagnosis and management of patients with a mixed phenotype of hereditary transthyretin amyloidosis and enriches clinical data supporting the pathogenicity of a rare variant of transthyretin.

摘要

左心室肥厚是一种常见疾病，鉴别诊断范围广泛。我们报告一例中年女性病例，其左心室肥厚和神经病变由一种罕见的转甲状腺素蛋白变异体引起，且无家族病史或遗传性转甲状腺素蛋白淀粉样变性的区域报告。本报告概述了遗传性转甲状腺素蛋白淀粉样变性混合表型患者的诊断和管理，并丰富了支持转甲状腺素蛋白罕见变异体致病性的临床数据。