Tzovaras V, Chatzikyriakidou A, Bairaktari E, Liberopoulos E N, Georgiou I, Elisaf M
Department of Internal Medicine, Medical School, University of Ioannina, Ioannina, Greece.
Scand J Clin Lab Invest. 2007;67(6):589-95. doi: 10.1080/00365510701222868.
Primary renal hypouricaemia is a hereditary clinical disorder characterized by increased renal urate clearance due to isolated renal tubular defect of uric acid transport. There have been only a few studies on primary renal hypouricaemia in Caucasian populations. Defects in the SLC22A12 gene, which encodes the renal urate transporter URAT1, have been reported to be related to the disease pathogenesis. This study was undertaken to elucidate whether SLC22A12 gene mutations are responsible for low serum uric acid levels in Greek people.
Nine Greek Caucasian subjects with primary renal hypouricaemia were included in the study. All had serum uric acid less than 2.5 mg dL(-1) (0.14 mmol L(-1)), fractional excretion of uric acid more than 10% and no other known causes of hypouricaemia. Mutation analysis of the SLC22A12 gene was performed.
No mutation was found--only the previously reported silent polymorphism 1246T > C (His 42His) in exon 2 of the SLC22A12 gene.
No previously reported mutation of URAT1 was associated with primary renal hypouricaemia in Greek subjects.
原发性肾性低尿酸血症是一种遗传性临床疾病，其特征是由于尿酸转运的孤立肾小管缺陷导致肾尿酸清除率增加。关于白种人群中原发性肾性低尿酸血症的研究仅有少数。据报道，编码肾尿酸转运蛋白URAT1的SLC22A12基因突变与该疾病的发病机制有关。本研究旨在阐明SLC22A12基因突变是否是希腊人血清尿酸水平低的原因。
本研究纳入了9名患有原发性肾性低尿酸血症的希腊白种人受试者。所有受试者的血清尿酸均低于2.5mg/dL（0.14mmol/L），尿酸排泄分数超过10%，且无其他已知的低尿酸血症病因。对SLC22A12基因进行了突变分析。
未发现突变——仅发现了SLC22A12基因第2外显子中先前报道的沉默多态性1246T>C（His 42His）。
在希腊受试者中，未发现先前报道的URAT1突变与原发性肾性低尿酸血症相关。
