糖原累积病中国三级预防指南《糖原累积病中国三级预防指南》制订组

Chinese guidelines for the primary, secondary, and tertiary prevention of glycogen storage disease

摘要:

糖原累积病（GSD）是一组以糖原合成和分解异常为特征的单基因遗传病，多数属常染色体隐性遗传。GSD根据酶缺陷或转运体的不同，可细分为十几种类型。根据受累的系统，主要可分为肝脏GSD和肌肉GSD两大类。肝脏GSD的典型表现为婴儿期起病的肝脏大、生长发育落后、空腹低血糖、高脂血症、高尿酸血症和高乳酸血症等。肌肉GSD表现为运动不耐受、运动相关性肌痛、肌痉挛和进行性肌无力。针对不同目标人群、不同基因型实施三级预防策略，在不同时期进行遗传学筛查及干预，可有效降低GSD发生率，提高GSD早期治疗率。为此，经指南制定专家组反复讨论，参考国内外相关指南、专家共识及最新研究证据，结合我国国情，撰写了GSD中国三级预防指南，旨在为GSD的三级预防提供标准化流程参考，进一步促进GSD的规范化防控。

Abstract:

Glycogen storage disease （GSD） is a group of monogenic hereditary disorders characterized by abnormalities in glycogen synthesis and catabolism， most of which are inherited in an autosomal recessive pattern. GSD can be classified into more than ten types based on enzyme defects or transporters， and according to the affected system， it can be mainly classified into two categories of liver GSD and muscle GSD. The typical manifestations of liver GSD include hepatomegaly with onset in infancy， growth retardation， fasting hypoglycemia， hyperlipidemia， hyperuricemia， and hyperlacticemia， while the manifestations of muscle GSD include exercise intolerance， exercise-related myalgia， myospasm， and progressive muscle weakness. The primary， secondary， and tertiary prevention strategies target different populations and genotypes and perform genetic screening and prevention at different time points， which can effectively reduce the incidence rate of GSD and increase the early treatment rate of GSD. For this reason， with reference to related guidelines， expert consensus， and the latest research evidence in China and globally， the expert group of the guidelines conducted repeated discussions and formulated the guidelines for the primary， secondary， and tertiary prevention of GSD in the light of China’s national conditions， in order to provide a standardized process for the primary， secondary， and tertiary prevention of GSD and further promote the standardized prevention and control of GSD. ［Journal of International Neurology and Neurosurgery, 2024, 51(5): 14-22］