两姐妹的糖原贮积病：一例报告
Glycogen storage disease in two sisters: A case report.
作者信息
Twanabasu Sajal, Duwadee Prabin, Homagain Sushan, Ghimire Jeevan, Rijal Ram Chandra
机构信息
Dhading Hospital Nilkantha Municipality Dhading Nepal.
出版信息
Clin Case Rep. 2023 May 4;11(5):e7318. doi: 10.1002/ccr3.7318. eCollection 2023 May.
Abstract
Glycogen storage diseases (GSDs) are rare autosomal disorders that result from defects in glycogen metabolism. There are more than 12 types, each with distinct clinical features. Clinical scenario, biochemical abnormalities are useful for suspicion whereas liver biopsy and enzyme assay provides definite diagnosis. We report a case of two sisters with similar clinical symptoms suggestive of the disease.
摘要
糖原贮积病（GSDs）是一类罕见的常染色体疾病，由糖原代谢缺陷引起。其类型超过12种，每种都有独特的临床特征。临床症状、生化异常有助于怀疑该病，而肝活检和酶测定可提供明确诊断。我们报告一例有相似临床症状提示该病的姐妹病例。
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