摘要
摘 要: 黏脂贮积症Ⅱ型(mucolipidosis type Ⅱ)是溶酶体贮积症中的一种, 属于罕见的常染色体隐性遗传病。黏脂贮积症Ⅱ型是由于N-乙酰氨基葡萄糖-1-磷酸转移酶(N-acetylglucosamine-1-phosphotransferase)的功能缺陷使溶酶体酶靶向运输进入溶酶体受阻而引起的溶酶体功能缺陷疾病, 其临床特征主要有颅面畸形、骨骼异常、身材矮小、心脏肿大和发育迟缓等。近年来罕见病的研究与治疗日益受到重视, 本文总结了黏脂贮积症Ⅱ型的发病机制、病理症状、诊断和治疗等方面的研究进展, 以期加深对黏脂贮积症Ⅱ型的理解, 为黏脂贮积症Ⅱ型的基础研究与诊治提供线索。
Abstract
Abstract: Mucolipidosis type Ⅱ is a rare autosomal recessive disease caused by deficiency of N-acetylglucosamine-1-phosphotransferase, thus blocking lysosomal enzymes from entering lysosomes, and resulting in lysosomal dysfunction. It is characterized by coarse facial features, short stature, skeletal abnormalities, cardiomegaly, and developmental delay. In recent years, more and more attention has been paid to the research and treatment of such a rare disease. Herein, the research progress in the pathogenesis, pathological symptoms diagnosis and treatment of mucolipidosis type Ⅱ is summarized, so as to deepen the understanding of this disease and provide clues for related basic research and diagnosis.
焦资君, 金介员, 项 荣. , {{custom_author.name_cn}}等.
黏脂贮积症Ⅱ型的发生机制及病理症状研究进展[J]. 生命科学研究, 2020, 24(6): 499-503
JIAO Zi-jun, JIN Jie-yuan, XIANG Rong. , {{custom_author.name_en}}et al.
Research Progress on Pathogenesis and Pathologic Symptoms of Mucolipidosis Type Ⅱ[J]. Life Science Research, 2020, 24(6): 499-503
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脚注
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