摘要：
目的 探讨糖原累积病(glycogen storage diseases,GSD)Ⅰ a型继发痛风的临床特点,提高对本病的认识.方法 分析2006-2016年期间北京协和医院普通内科住院的5例GSD Ⅰa型继发痛风患者的临床表现、辅助检查、治疗情况及转归,所有患者均经过肝穿刺活检和基因检测证实为GSD Ⅰ a型,同时进行相关文献复习.结果 5例患者中,男3例,女2例,年龄27(19～39)岁,痛风发病年龄17(10～22)岁.GSD的临床表现以自幼肝肿大、低血糖、生长发育迟缓、贫血最常见,均有高尿酸血症、高乳酸血症、高脂血症.3例肾脏损害,其中1例肾功能不全.5例患者均并发痛风石和肾结石,在首次关节症状后1～6(3.8±2.3)年出现多发痛风石、2～17(10.2±6.1)年发现肾结石.所有患者通过生活方式干预、别嘌醇降尿酸、生玉米淀粉等治疗,症状明显改善.结论 对于发病年龄早、痛风石出现早且分布广泛的青少年痛风患者,应积极寻找原发疾病,若存在自幼肝肿大、反复低血糖、生长发育迟缓等表现,需高度警惕GSD.应及早对GSD患者的高尿酸血症和痛风进行规范管理和治疗,以期控制病情发展和预防并发症.%Objective To analyze the clinical features of secondary gout in glycogen storage disease type Ⅰ a (GSD Ⅰ a),so as to improve the awareness of this disease.Methods The clinical features,laboratory findings,treatments and prognosis of 5 GSD Ⅰ a patients with secondary gout who had been admitted to the Peking Union Medical College Hospital during 2006 to 2016 were collected and analyzed.GSD Ⅰ a was confirmed by liver biopsy and genotyping.Results Among the 5 patients (median age:27 years),3 were males and 2 were females.The mean age of gout onset was 17 ranging from 10 to 22 years old.The common manifestations of GSD included hepatomegaly since childhood,hypoglycemia,growth retardation,anemia,hyperlactacidemia and hyperlipidemia.All the 5 patients were complicated with gouty tophi and kidney stone.Gouty tophi and kidney stone were identified 3.8 years and 10.2 years after the first occurrence of articular symptoms,respectively.Renal damage occurred in 3 cases.All the patients underwent several therapeutic modalities including lifestyle intervention,allopurinol,and raw corn starch treatment.Conclusions Determination of the presence of primary disease should be performed actively for young-onset gout with early occurrence of gouty tophi.GSD should be suspected if there exist clinical manifestations like hepatomegaly,recurrent hypoglycemia,growth retardation.Early management of hyperuricemia and gout in GSD patients is important to prevent complications and improve prognosis.
