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黏多糖贮积症相关青光眼。

Glaucoma in mucopolysaccharidoses.

机构信息

Department of Pediatrics, Beijing Friendship Hospital, Capital Medical University, Beijing, 100050, China.

Beijing Hong Jian Medical Device Company, Beijing, 100176, China.

出版信息

Orphanet J Rare Dis. 2021 Jul 15;16(1):312. doi: 10.1186/s13023-021-01935-w.

Abstract

Mucopolysaccharidoses are a group of lysosomal storage disorders that are caused by deficiency of enzymes involved in glycosaminoglycans degradation. Due to low prevalence and high childhood mortality, researches on mucopolysaccharidoses were mainly focused on the fatal manifestations. With the development of treatments, more and more mucopolysaccharidoses patients were treated by approved therapies, thereby getting prolonged life span and improved quality of life. Abnormal accumulation of glycosaminoglycans in the eye may block trabecular meshwork, thicken sclera and change mechanical behavior of lamina cribrosa, which, by increasing intraocular pressure and damaging optic nerve, could cause glaucoma. Glaucoma was the leading cause of irreversible blindness worldwide, but it was rarely reported in mucopolysaccharidoses patients. Although non-fatal, it seriously affected quality of life. Prevalence of glaucoma in mucopolysaccharidoses patients (ranged from 2.1 to 12.5%) indicated that glaucoma in patients with mucopolysaccharidoses was worthy of attention and further study, thereby improving the quality of life for MPSs patients.

摘要

黏多糖贮积症是一组溶酶体贮积症,由参与糖胺聚糖降解的酶缺乏引起。由于发病率低,儿童死亡率高,黏多糖贮积症的研究主要集中在致命表现上。随着治疗方法的发展,越来越多的黏多糖贮积症患者接受了批准的治疗方法,从而延长了寿命,提高了生活质量。糖胺聚糖在眼睛中的异常积累可能会阻塞小梁网,使巩膜变厚,并改变板层 cribrosa 的机械行为,从而通过增加眼内压和损伤视神经导致青光眼。青光眼是全球范围内导致不可逆转失明的主要原因,但在黏多糖贮积症患者中很少见报道。虽然不是致命的,但它严重影响了生活质量。黏多糖贮积症患者中青光眼的患病率(2.1%至 12.5%)表明,黏多糖贮积症患者的青光眼值得关注和进一步研究,从而提高 MPS 患者的生活质量。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d387/8281695/f55a32b37d6a/13023_2021_1935_Fig1_HTML.jpg

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