以痛风肌炎为临床表现的糖原累积症三例及文献复习

Glycogen storage disease with the manifestations of gout and myositis： report of three cases and literature review

目的：探讨糖原累积症的临床特征、诊断和鉴别诊断。方法：分析3例糖原累积症患者的临床表现、实验室检查、影像学以及病理活检结果并进行相关文献复习。结果：3例患者中男性1例,女性2例,年龄21～37岁,平均27岁;病程0.5～22年,其中1例表现为继发性痛风,2例类似多肌炎;2例患者有高尿酸血症、高脂血症和肝肿大,肝活检显示脂肪变性和糖原累积;1例患者有心脏传导阻滞、突发性呼吸衰竭和明确家族史,α-1,4糖苷酶活性检测显著低于正常值,血乳酸水平显著高于正常值上限,肌肉活检糖原染色阳性。结论：糖原累积症主要症状群中包括关节肌肉方面的表现,对于一些初诊为痛风或炎性肌病的非寻常患者,应仔细了解家族史,并对血液、活检标本等行相关特异性检查,如特定酶的活性测定和糖原染色等以免误诊。

Objective To study the clinical manifestation, diagnosis and differential diagnosis of glycogen storage disease. Methods Three cases with glycogen storage disease were described including the clinical manifestations, laboratory findings, image and biopsy. The related literature was reviewed. Results There were one male patient and two female patients. The age was between 21～37 years old （average 27）; The disease duration was between 0.5～22 years. One patient had symptoms of gout while the other two had clinical presentations mimic the polymyositis. Two cases had hyperuricemia, hyperlipidemia and hepatomegaly. Liver biopsy revealed fatty degeneration and glycogen storage; one case had cardiac block, sudden respiratory failure and definite family history whose α-1,4 glycosidase activity was significantly below the normal range accompanied by high level of lactic acid and a positive PAS stain of muscle biopsy. Conclusion Glycogen storage disease is a rare congenital metabolic disease which may produce joints or muscle symptoms. For those patients with unusual presentations of gout or inflammatory myopathy, the activity of the specific enzymes should be analyzed and PAS stain on samples of liver biopsy and muscle biopsy should be performed, in most cases, family history can be a clue for correct diagnosis. [Key words]