Carvès Céline, Duquenoy Anne, Toutain Fabienne, Trioche P, Zarnitski Charles, Le Roux Pascal, Le Luyer Bernard
Pediatrics department, Groupe Hospitalier du Havre, Le Havre, France.
Joint Bone Spine. 2003 Mar;70(2):149-53. doi: 10.1016/s1297-319x(03)00020-4.
Hyperuricemia is a well-known consequence of glucose-6-phosphatase (G6Pase) deficiency, the enzymatic abnormality that characterizes glycogen storage disease (GSD) Type Ia. However, acute gout as the presenting manifestation of GSD Type Ia has been reported in only a few patients. We report a new case in a 17-year-old male evaluated for acute gouty tendinitis in the right Achilles tendon. Blood tests showed chronic acidosis with high levels of uric acid, lactic acid, and cholesterol. A liver enzyme study confirmed the diagnosis of GSD Type Ia. A genetic study showed that the index patient and his sister were composite heterozygotes for the known mutation R83C and the previously unreported mutation M5R. Acute gout in an adolescent with liver enlargement and high blood levels of uric acid and cholesterol should suggest GSD. Demonstration by molecular biology techniques of a mutation in both alleles of the G6Pase gene establishes the diagnosis of GSD Type Ia, obviating the need for a liver biopsy.
高尿酸血症是葡萄糖-6-磷酸酶（G6Pase）缺乏症的一个众所周知的后果，G6Pase缺乏症是糖原贮积病（GSD）Ia型的特征性酶异常。然而，仅有少数患者报告急性痛风作为GSD Ia型的首发表现。我们报告一例17岁男性新病例，该患者因右跟腱急性痛风性肌腱炎接受评估。血液检查显示慢性酸中毒，尿酸、乳酸和胆固醇水平升高。肝脏酶学研究证实为GSD Ia型。基因研究表明，索引患者及其妹妹是已知突变R83C和先前未报告的突变M5R的复合杂合子。青少年出现急性痛风伴肝脏肿大以及高血尿酸和胆固醇水平应提示GSD。通过分子生物学技术证明G6Pase基因两个等位基因均存在突变可确立GSD Ia型的诊断，从而无需进行肝活检。
