Mayaudon H, Burnat P, Eulry F, Payen C, Dupuy O, Ducorps M, Bauduceau B
Service d'Endocrinologie, Hôpital d'Instruction des Armées Bégin, Saint-Mandé.
Presse Med. 1998 Apr 11;27(14):661-3.
Hypouricemia can be observed in uncommon situations as in our two patients with hereditary xanthinuria.
In the first case, hereditary xanthinuria was discovered in a 36-year-old man when routine tests revealed hypouricemia. In the second case, a 76-year-old woman, hypouricemia was also a fortuitous discovery. She had major xanthinuria and a radiotranslucid lithiasis in the right kidney.
Hereditary xanthinuria is characterized by hypouricemia, low urinary urate excretion and increased concentration of xanthine and to a lesser extent hypoxanthine. The disease results from a defect in xanthine oxidase and is considered to be transmitted by autosomal recessive heredity. This rare metabolic disorder is more often asymptomatic and detected by routine chemistry. Development of xanthine lithiasis is directly related to the low solubility of xanthine and is the main complication of the disease, occurring in 30-40% of patients. There is no effective treatment and the only useful measure is to prevent xanthine urolithiasis by maintaining urinary output above 2 l/day.
低尿酸血症可见于罕见情况，如我们的两名遗传性黄嘌呤尿症患者。
第一例中，一名36岁男性在常规检查发现低尿酸血症时被诊断为遗传性黄嘌呤尿症。第二例中，一名76岁女性，低尿酸血症也是偶然发现。她有严重的黄嘌呤尿症且右肾有透光性结石。
遗传性黄嘌呤尿症的特征为低尿酸血症、低尿尿酸排泄以及黄嘌呤浓度升高，次黄嘌呤浓度也有一定程度升高。该疾病由黄嘌呤氧化酶缺陷引起，被认为是常染色体隐性遗传。这种罕见的代谢紊乱通常无症状，通过常规化学检查发现。黄嘌呤结石的形成与黄嘌呤的低溶解度直接相关，是该疾病的主要并发症，见于30% - 40%的患者。目前尚无有效治疗方法，唯一有效的措施是通过保持每日尿量超过2升来预防黄嘌呤尿路结石。
