Gaucher Disease (GD) is an autosomal recessive lysosomal storage disorder characterized by high heterogeneity. This study aimed to further understand the correlation between clinical phenotypes and genotypes in GD patients through a retrospective analysis of 20 cases in Shanxi Bethune Hospital, including their clinical manifestations, laboratory tests, enzyme studies, and genetic results. Among the 20 GD patients, 16 were classified as Type Ⅰ GD with a median age of diagnosis of 24 years, and 4 were classified as Type Ⅲ GD with a median age of diagnosis of 19 years. All patients exhibited splenomegaly and thrombocytopenia, with 16 patients showing skeletal imaging changes, and 5 of them presenting with bone pain symptoms. Genetic analysis revealed 15 distinct mutations, predominantly missense mutations, with L483P being the most prevalent (35.7%), followed by V414L, L303I, and F252I. Mutation sites were predominantly located in exon 7. Noteworthy findings included the first report of the S310G mutation by our research group and the first occurrence of the K196R mutation in the Chinese population. Additionally, the N227S mutation was implicated in a potential association with neuropathy. Despite advancements, Uncertainties still exist in the correlation between clinical phenotypes and genotypes in GD patients.
戈谢病（Gaucher disease，GD）是一种常染色体隐性溶酶体贮积症，具有高度异质性。本研究通过回顾性分析山西白求恩医院20例GD患者的临床表现、实验室检查、酶学及基因结果，进一步了解GD患者临床表型与基因型相关性。20例GD患者中，Ⅰ型GD16例，中位确诊年龄24岁；Ⅲ型GD 4例，中位确诊年龄19岁。所有患者均有脾大和血小板减少；16例患者有骨骼影像学改变，5例合并骨痛症状。20例患者共检出15种基因突变，多为错义突变，以L483P（35.7%）突变多见，其次为V414L、L303I、F252I，突变位点多见于7号外显子。其中，S310G突变为本课题组首次报道，K196R突变为中国人群首次报道，发现N227S突变可能与神经病变相关。GD患者临床表型与基因型之间仍存在不确定性。.