黏脂贮积症Ⅲα/β型合并扩张型心肌病1例  

A case of mucolipidosis typeⅢα/βcombined with dilated cardiomyopathy

作　　者：姜海燕 张敏 康婷[1] 郑泽琪[1] JIANG Haiyan;ZHANG Min;KANG Ting;ZHENG Zeqi(Department of Cardiology,The First Affiliated Hospital of Nanchang University,Nanchang,330006,China)

机构地区：[1]南昌大学第一附属医院心血管内科,南昌330006

出　　处：《临床心血管病杂志》2024年第10期863-866,共4页Journal of Clinical Cardiology

摘　　要：本文报道1例罕见的黏脂贮积症伴全心增大及严重心功能障碍的病例。该患者的临床表现、症状和体征符合溶酶体贮积病的特点,基于溶酶体疾病的疑似诊断,提取患者及其父母外周血,通过全外显子组测序进行遗传学致病基因分析和家系调查,基因检测结果显示患者GNPTAB基因中存在c.2715+1G>A(splice)、c.1090C>T(p.Arg364Ter)、c.1209T>C(p.Ile403Ile)3处杂合变异,且均来源于其父母,符合常染色体隐性遗传的特点,变异可解释受检者的临床表型,提示为黏脂贮积症,但心脏扩大伴心力衰竭的表型较罕见,形成机制未明。本研究旨在通过分析1例患者的临床表现,提高对黏脂贮积症Ⅲα/β型的认知。This article reports one case of mucolipidosis with whole-heart enlargement and severe cardiac dysfunction.The clinical manifestations,symptoms and signs of this patient were consistent with the characteristics of lysosomal storage disease.Based on the suspected diagnosis of lysosomal disease,we extracted peripheral blood from the patient and his parents for genetic pathogenic gene analysis and family lineage investigation by whole-exome sequencing.Genetic testing results showed that there are three heterozygous mutations in GNPTAB gene of the patient:c.2715+1G>A(splice),c.1090C>T(p.Arg364Ter),c.1209T>C(p.Ile403Ile),all of which are derived from his parents,consistent with autosomal recessive inheritance.The variation could explain the clinical phenotype of the client,but the phenotype of cardiac enlargement is rare and the mechanism of its formation is unknown.The aim of this study is to improve the cognition of MLⅢα/βtype by analyzing the clinical presentation of one patient.

关 键 词：黏脂贮积症 GNPTAB基因 心力衰竭 

分 类 号：R541.6[医药卫生—心血管疾病]