Stibůrková B, Pospísilová E, Kmoch S, Sebesta I
Institute of Inherited Metabolic Disorders, Charles University 1st School of Medicine, Prague, Czech Republic.
Nucleosides Nucleotides Nucleic Acids. 2006;25(9-11):1301-4. doi: 10.1080/15257770600893917.
Excretion fraction of uric acid (EFUA), is one of the most important hallmarks for diagnosis of familial juvenile hyperuricemic nephropathy (FJHN) and hereditary renal hypouricemia. EFUA was measured in 20 patients with FJHN. However, low excretion fraction (<6%) was found also in healthy FJHN family members and healthy controls (ref. ranges EFUA: men 6-12%, women 6-20%). Similar finding of low EFUA was reported recently. Distribution of EFUA was further studied in 2,416 healthy controls, which were selected from 6,000 samples and divided according to age. In conclusion, finding of low EFUA in family members is a risk factor for renal damage and indication for purine metabolic investigations with subsequent molecular biology analysis. As EFUA could be found also in healthy controls--it should be interpreted with care and other features of FJHN (such as hyperuricemia, progressive renal disease in family) should be taken to account.
尿酸排泄分数（EFUA）是诊断家族性青少年高尿酸血症肾病（FJHN）和遗传性肾性低尿酸血症的最重要标志之一。对20例FJHN患者进行了EFUA测定。然而，在健康的FJHN家庭成员和健康对照者中也发现了低排泄分数（<6%）（EFUA参考范围：男性6 - 12%，女性6 - 20%）。最近有报道称发现了类似的低EFUA情况。对从6000个样本中选取并按年龄划分的2416名健康对照者进一步研究了EFUA的分布情况。总之，家庭成员中出现低EFUA是肾损伤的一个危险因素，也是进行嘌呤代谢调查及后续分子生物学分析的指征。由于在健康对照者中也能发现EFUA，因此对其解读应谨慎，并应考虑FJHN的其他特征（如高尿酸血症、家族性进行性肾病）。
