10例儿童肝糖原累积病临床及病理学分析

Clinical and pathological features of children with glycogen storage disease:An analysis of 10 cases

目的探讨儿童糖原累积病(GSD)的临床及病理学特点。方法选择2002年1月—2022年1月河北医科大学第三医院及解放军第五医学中心经病史、肝脏生化及肝活组织检查确诊的GSD 10例,对比分析人群特征、临床表现、生化指标、肝组织病理学特点。结果10例患儿发育迟缓,矮小,均表现为肝功能异常,轻度乏力、纳差、尿黄、眼黄,4例患者肝脾肿大。6例患者有低血糖的临床表现;1例患儿双侧腓肠肌肥大,Gower征阳性。2例患儿巨细胞病毒IgG阳性。肝组织病理学表现肝细胞弥漫性肿大,胞浆空淡,核小居中似植物细胞状,伴或不伴纤维组织增生。结论GSD患者多数有发育迟缓、转氨酶异常,肝组织病理检查有其特异性病理特征。

Objective To investigate the clinical and pathological features of children with glycogen storage disease(GSD).Methods A retrospective analysis was performed for ten children with GSD who were admitted to the Third Hospital of Hebei Medical University and The Fifth Medical Center of Chinese PLA General Hospital from January 2002 to January 2022,based on medical history,liver biochemistry,and liver biopsy,and population characteristics,clinical manifestations,biochemical parameters,and liver histopathological characteristics were compared and analyzed.Results All ten children had developmental retardation and a short stature,with the manifestations of abnormal liver function,mild weakness,poor appetite,yellow urine,and yellow eyes,and four children had hepatosplenomegaly.Among the ten children,six had the clinical manifestations of hypoglycemia,and one had bilateral gastrocnemius hypertrophy and positive Gower sign.Two children had positive CMV IgG.Liver histopathological manifestations included diffuse enlargement of hepatocytes,light cytoplasm,and small nucleus in the middle like plant cells,with or without fibrous tissue proliferation.Conclusion Most patients with GSD have developmental retardation and abnormal aminotransferases,and liver pathological examination shows specific pathological features.