Objective To summarize the clinical features of Chinese glyeogenstorage disease, in order to improve clinical physician's cognition of the disease and reduce the misdiagnosis and mis - therapy. Methods An online search was undertaken of China Journal Full - Text Database ( CJFD ), Wanfang Database, and VIP Full - Text Database. The clinical data of 75 eligible cases of Chinese glyeogen storage disease were analyzed retrospectively. Results About 72. 0% of the 75 cases were male, the time of first attack was 15 hours after birth to 65 years old. The major initial symptoms were abdominal distension or hepatomegaly ( 56. 0% ). Other initial symptoms included fatigue, dyspnea, diarrhea, nasal hemorrhage, gastrointestinal hemorrhage, and hepatic coma. The main symptoms during the disease progression were growth retardation ( 57. 3% ), hypoglycemia ( 8. 0% ), and limb weakness ( 6. 1% ). Most patients had abnormality of liver function and hypoglycemia. there wer 11 cases of anemia, 5 cases of hyperuricemia, 8 cases of hypertriglyceridemia, 4 cases of hypercholesterolemia, 2 cases of hyperlactaci-demia, and 1 case whose epinephrine stimulating test was positive. The abdominal ultrasonography of most patients showed a liver enlarged in volume, full in shape, and increased intra - hepatic echogenicity. There were 2 cases of hepatic nodular, 2 cases of cirrhosis, and 3 cases of splenomegaly. Conclusion Glyeogen Storage Disease, considered as a differential diagnosis of hepatomegaly and abnormality of liver function, is paid more attention. The possibility of glyeogen storage disease should be paid highly attention as the following condition appears: hepatomegaly with or without splenomegaly; growth retardation; such abnormal biochemical tests as abnormality of liver function, hyperuricemia, hyperlipidaemia and hypoglycemia; and diffused liver enlargement in abdominal ultrasonography. The final diagnosis can depend on liver biopsy.%目的 总结国人肝糖原累积症的临床特点,提高临床医生对该病的认识,减少误诊误治.方法 文献检索中国期刊全文数据库、万方全文数据库、维普全文数据库,下载命中的全部文献,仔细阅读检索到的文献全文,剔除重复收录、重复发表、同一单位或个人的重复报道的文献,并根据肝穿刺活检选出确诊为肝糖原累积症且资料完整的病例共75例.结果 75例患者中,72.0%为男性,首次发病年龄为出生后15 h～65岁.主要首发症状为腹膨隆或肝脏增大(56.0%),其他首发症状还包括乏力、呼吸困难、腹泻、鼻出血、消化道出血、肝昏迷等.病程中出现的主要症状为生长发育迟缓(57.3%),低血糖症状(8.0%),肢体无力(6.7%).大部分患者出现转氨酶升高及血糖低于正常,贫血11例,血尿酸升高5例,三酰甘油升高8例,胆固醇升高4例,乳酸增高2例.1例行肾上腺素激发试验为阳性.大部分患者超声示肝脏体积增大,形态饱满,肝内回声增强.肝脏结节2例,肝硬化2例,脾脏增大3例.结论 作为肝肿大及肝功能异常原因的鉴别诊断,肝糖原累积症应当受到关注.当出现下列情况时,应高度警惕肝糖原累积症的可能:(1)肝肿大伴或不伴脾肿大;(2)生长发育迟缓;(3)生化检查示肝酶升高,血尿酸升高,三酰甘油、胆固醇升高,低血糖;(4)腹部超声可见肝脏弥漫性病变.肝穿刺活检是鉴别诊断的有力依据.
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