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以缓慢进展性心肌病为表现且溶酶体相关膜蛋白2（LAMP-2）基因存在新型错义变异的Danon病

Danon Disease Presenting with Slowly Progressive Cardiomyopathy and Harboring a Novel Missense Variant in the Lysosome-associated Membrane Protein Type 2 (LAMP-2) Gene.

作者信息

Nakagawa Yoichiro, Hayashi Kenshi, Tada Takayasu, Asakawa Miwako, Yoshida Shohei, Nomura Akihiro, Miwa Kenji, Furusho Hiroshi, Takamura Masayuki, Yasuda Toshihiko

机构信息

Department of Cardiology, Ishikawa Prefectural Central Hospital, Japan.

Department of Cardiovascular Medicine, Kanazawa University Hospital, Japan.

出版信息

Intern Med. 2025 Mar 15;64(6):857-863. doi: 10.2169/internalmedicine.3953-24. Epub 2024 Aug 8.

DOI:10.2169/internalmedicine.3953-24
PMID:39111889
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11986313/
Abstract

Danon disease (DD) is a rare lysosomal storage disorder resulting from pathogenic variants of the lysosome-associated membrane protein type 2 (LAMP-2) gene. The disease is characterized by severe cardiomyopathy, which rapidly progresses to end-stage heart failure. This case, with DD caused by a missense variant, exhibited slow progressive cardiomyopathy and survived for an extended period despite being a male. A pathological analysis revealed that only a minority of the samples exhibited autophagic vacuoles with unique sarcolemmal features, which are typical of DD. Importantly, LAMP-2 expression was absent and the myocardial tissue contained a substantial amount of p62-positive aggregates.

摘要

丹农病（DD）是一种罕见的溶酶体贮积症，由溶酶体相关膜蛋白2（LAMP - 2）基因的致病变体引起。该疾病的特征是严重的心肌病，可迅速进展为终末期心力衰竭。本病例由错义变体导致丹农病，表现为缓慢进展的心肌病，尽管为男性，但存活了较长时间。病理分析显示，只有少数样本表现出具有独特肌膜特征的自噬空泡，这是丹农病的典型特征。重要的是，LAMP - 2表达缺失，心肌组织中含有大量p62阳性聚集体。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/19c8/11986313/7a1e2181318d/1349-7235-64-0857-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/19c8/11986313/ccbf69db5ff8/1349-7235-64-0857-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/19c8/11986313/973f4aaa7ec3/1349-7235-64-0857-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/19c8/11986313/10912c01f0b1/1349-7235-64-0857-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/19c8/11986313/a06778cc62da/1349-7235-64-0857-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/19c8/11986313/7a1e2181318d/1349-7235-64-0857-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/19c8/11986313/ccbf69db5ff8/1349-7235-64-0857-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/19c8/11986313/973f4aaa7ec3/1349-7235-64-0857-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/19c8/11986313/10912c01f0b1/1349-7235-64-0857-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/19c8/11986313/a06778cc62da/1349-7235-64-0857-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/19c8/11986313/7a1e2181318d/1349-7235-64-0857-g005.jpg

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本文引用的文献

1
A Pathogenic LAMP2 Non-Canonical Splice Site Mutation Caused Danon Disease Requiring Heart Transplantation.
Circ J. 2024 Mar 25;88(4):612. doi: 10.1253/circj.CJ-23-0938. Epub 2024 Jan 20.
2
International Consensus on Differential Diagnosis and Management of Patients With Danon Disease: JACC State-of-the-Art Review.《丹农病患者的鉴别诊断和管理国际共识：美国心脏病学会最新综述》。
J Am Coll Cardiol. 2023 Oct 17;82(16):1628-1647. doi: 10.1016/j.jacc.2023.08.014.
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Clinical features of Danon disease and insights gained from LAMP-2 deficiency models.丹农病的临床特征及 LAMP-2 缺乏模型的研究进展
Trends Cardiovasc Med. 2023 Feb;33(2):81-89. doi: 10.1016/j.tcm.2021.10.012. Epub 2021 Nov 2.
4
Systemic AAV9.LAMP2B injection reverses metabolic and physiologic multiorgan dysfunction in a murine model of Danon disease.全身性注射腺相关病毒9型（AAV9）.溶酶体相关膜蛋白2B（LAMP2B）可逆转Danon病小鼠模型中的代谢和生理多器官功能障碍。
Sci Transl Med. 2020 Mar 18;12(535). doi: 10.1126/scitranslmed.aax1744.
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Review: Danon disease: Review of natural history and recent advances.综述：Danon 病：自然病史和最新进展综述。
Neuropathol Appl Neurobiol. 2020 Jun;46(4):303-322. doi: 10.1111/nan.12587. Epub 2019 Nov 25.
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A Comprehensive Review of Autophagy and Its Various Roles in Infectious, Non-Infectious, and Lifestyle Diseases: Current Knowledge and Prospects for Disease Prevention, Novel Drug Design, and Therapy.自噬及其在感染性、非感染性和生活方式疾病中的多种作用的综合综述：疾病预防、新型药物设计和治疗的现有知识和前景。
Cells. 2019 Jul 3;8(7):674. doi: 10.3390/cells8070674.
7
Danon disease: Gender differences in presentation and outcomes.Danon 病：临床表现和结局的性别差异。
Int J Cardiol. 2019 Jul 1;286:92-98. doi: 10.1016/j.ijcard.2019.01.020. Epub 2019 Feb 16.
8
A Nationwide Survey on Danon Disease in Japan.日本丹-东综合征的全国性调查。
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9
A Mild Version of Danon Disease Caused by a Newly Recognized Mutation in the Lysosome-associated Membrane Protein-2 Gene.由溶酶体相关膜蛋白-2基因新发现的突变引起的轻型Danon病
Cureus. 2018 Feb 4;10(2):e2155. doi: 10.7759/cureus.2155.
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