URAT1 and GLUT9 mutations in Spanish patients with renal hypouricemia

Clinica Chimica Acta; International Journal of Clinical Chemistry
Felix Claverie-MartinRenalTube Group

Abstract

Renal hypouricemia (RHUC), a rare inherited disorder characterized by impaired uric acid (UA) reabsorption in the proximal tubule, is caused by mutations in SLC22A12 or SLC2A9. Most mutations have been identified in Japanese patients, and only a few have been detected in Europeans. We report clinical, biochemical and genetics findings of fourteen Spanish patients, six Caucasians and eight of Roma ethnia, diagnosed with idiopathic RHUC. Two of the patients presented exercise-induced acute renal failure and another one had several episodes of nephrolithiasis and four of them had progressive deterioration of renal function, while the rest were asymptomatic. Molecular analysis revealed SLC22A12 mutations in ten of the patients, and SLC2A9 mutations in the other four. A new heterozygous SLC22A12 missense mutation, c.1427C>A (p.A476D), was identified in two affected members of the same family. The rest of the patients presented homozygous, heterozygous or compound heterozygous mutations that have been previously identified in patients with RHUC; SLC22A12 p.T467M and p.L415_G417del, and SLC2A9 p.T125M. Expression studies in Xenopus oocytes revealed that c.1427C>A reduced UA transport but did not alter the location of URAT1 protein on ...Continue Reading

Citations

Jun 20, 2019·Physiological Reviews·Jenny van der WijstOlivier Devuyst
May 28, 2019·Molecular Genetics & Genomic Medicine·Zhaowei ZhouYongyong Shi
Jul 1, 2018·BMC Pediatrics·Dinesha Maduri VidanapathiranaBlanka Stiburkova
Oct 23, 2019·Molecular Medicine Reports·Cuiyu WangXiaohua Guo
Jul 13, 2019·Critical Reviews in Analytical Chemistry·Qiangwei WangJinming Kong
Apr 1, 2021·Rheumatology·Akiyoshi NakayamaUNKNOWN Guideline Development Committee of Clinical Practice Guideline for Renal Hypouricemia
Aug 21, 2021·Nefrología : publicación oficial de la Sociedad Española Nefrologia·Kubra KaynarFerhat Açíkyürek
Sep 2, 2021·Rheumatology·Akiyoshi NakayamaUNKNOWN members of Guideline Development Committee of Clinical Practice Guideline for Renal Hypouricaemia
Jun 17, 2021·Clinical and Experimental Pharmacology & Physiology·Chunsheng ZhuZheng Zhou
Sep 10, 2021·Clinica Chimica Acta; International Journal of Clinical Chemistry·Weixia SunXinli Zhou

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