Department of family medicine & Division of General Internal Medicine, Department of medicine, Peking Union Medical College Hospital, Chinese Academy of Medical Science & Peking Union Medical College, State Key Laboratory of Complex Severe and Rare Diseases (Peking Union Medical College Hospital), Beijing, China.
Department of Rheumatology, Peking Union Medical College Hospital, Chinese Academy of Medical Science & Peking Union Medical College, Beijing, China.
Arthritis Res Ther. 2022 Feb 26;24(1):58. doi: 10.1186/s13075-021-02706-5.
This study aimed to explore the clinical features of gout in adult patients with glycogen storage disease type Ia (GSD Ia).
Ninety-five adult patients with GSD Ia admitted to Peking Union Medical College Hospital were retrospectively analysed. A clinical diagnosis of GSD Ia was confirmed in all patients through gene sequencing. All patients had hyperuricaemia; 31 patients complicated with gout were enrolled, and 64 adult GSD Ia patients with asymptomatic hyperuricaemia were selected as a control group during the same period. Clinical characteristics were analysed and compared between the two groups.
Thirty-one of the 95 patients had complications of gout (median age, 25 years; 11 (35.5%) females). All 31 patients had hepatomegaly, abnormal liver function, fasting hypoglycaemia, hyperuricaemia, hyperlipaemia, and hyperlacticaemia. A protuberant abdomen, growth retardation, recurrent epistaxis, and diarrhoea were the most common clinical manifestations. Among these 31 patients, 10 patients (32.3%) had gout as the presenting manifestation and were diagnosed with GSD Ia at a median time of 5 years (range, 1-14) after the first gout flare. The median age of gout onset was 18 years (range, 10-29). Fifteen of the 31 GSD Ia-related gout patients were complicated with gouty tophi, which has an average incidence time of 2 years after the first gouty flare. The mean value of the maximum serum uric acid (SUA) was 800.5 μmol/L (range, 468-1068). The incidence of gout in adult GSD Ia patients was significantly associated with the initial age of regular treatment with raw corn starch, the proportion of urate-lowering therapy initiated during the asymptomatic hyperuricaemic stage, maximum SUA level, and mean cholesterol level.
Determination of GSD Ia should be performed for young-onset gout patients with an early occurrence of gouty tophi, especially in patients with hepatomegaly, recurrent hypoglycaemia, or growth retardation. Early detection and long-term regulatory management of hyperuricaemia, in addition to early raw corn starch and lifestyle intervention, should be emphasized for GSD Ia patients in order to maintain good metabolic control.
Retrospectively registered.
本研究旨在探讨糖原贮积病 Ia 型（GSD Ia）成年患者痛风的临床特征。
回顾性分析 95 例北京协和医院收治的 GSD Ia 成年患者。所有患者均通过基因测序确诊为 GSD Ia 临床诊断。所有患者均有高尿酸血症；纳入 31 例合并痛风的患者，同期选择 64 例无症状高尿酸血症的 GSD Ia 成年患者作为对照组。分析并比较两组患者的临床特征。
95 例患者中有 31 例（中位年龄 25 岁；女性 11 例[35.5%]）合并痛风并发症。31 例患者均有肝肿大、肝功能异常、空腹低血糖、高尿酸血症、高脂血症和乳酸性酸中毒。膨隆的腹部、生长迟缓、反复鼻出血和腹泻是最常见的临床表现。在这 31 例患者中，有 10 例（32.3%）以痛风发作为首发表现，痛风首次发作后中位时间 5 年（范围 1-14 年）确诊为 GSD Ia。痛风发病中位年龄为 18 岁（范围 10-29 岁）。31 例 GSD Ia 相关痛风患者中，有 15 例合并痛风石，首次痛风发作后平均 2 年出现痛风石。最大血清尿酸（SUA）的平均值为 800.5 μmol/L（范围 468-1068）。GSD Ia 成年患者痛风的发生率与规律应用生玉米淀粉的起始年龄、无症状高尿酸血症阶段开始降尿酸治疗的比例、最大 SUA 水平和平均胆固醇水平显著相关。
对于早发痛风、尤其是有肝肿大、反复低血糖或生长迟缓的痛风患者，应考虑进行 GSD Ia 测定。对于 GSD Ia 患者，除了早期应用生玉米淀粉和生活方式干预外，还应强调对高尿酸血症的早期检测和长期调控管理，以维持良好的代谢控制。
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