黏脂贮积症Ⅲα/β型合并扩张型心肌病1例

姜海燕; 张敏; 康婷; 郑泽琪

doi:10.13201/j.issn.1001-1439.2024.10.016

黏脂贮积症Ⅲα/β型合并扩张型心肌病1例

- 南昌大学第一附属医院心血管内科(南昌，330006)

详细信息

通讯作者: 郑泽琪，E-mail：zeqizheng@126.com

中图分类号: R541.6

收稿日期: 2023-10-24

刊出日期: 2024-10-13

A case of mucolipidosis type Ⅲ α/β combined with dilated cardiomyopathy

- Department of Cardiology, The First Affiliated Hospital of Nanchang University, Nanchang, 330006, China

More Information

Corresponding author: ZHENG Zeqi, E-mail: zeqizheng@126.com

Received Date: 24 October 2023

Publish Date: 13 October 2024

摘要

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。
- 黏脂贮积症 /
- GNPTAB基因 /
- 心力衰竭
Abstract: 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 ML Ⅲα/β type by analyzing the clinical presentation of one patient.
- mucolipidosis /
- GNPTAB gene /
- heart failure

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图 1 先证者的双手

Figure 1. The hands of the proband

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图 2 先证者的心电图

Figure 2. ECG result of the proband

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图 3 先证者的超声心动图

Figure 3. Echocardiogram results of the proband

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图 4 先证者全身多部位X线

Figure 4. X-ray results of the proband's whole body

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图 5 先证者的心脏磁共振

Figure 5. MRI of the proband's heart

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图 6 先证者携带GNPTAB基因的致病突变

Figure 6. The proband carries disease-causing mutations in the GNPTAB gene

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