摘要
特发性肾性低尿酸血症(idiopathic renal hypou-ficemia,iRHUC)是一种常染色体隐性遗传病,临床较罕见。该病是因编码肾小管尿酸转运子的基因SLCC2A12或SLC2A9突变,使肾小管转运尿酸的功能受损致尿酸排泄增多,从而导致低尿酸血症。iRHUC可导致运动诱发的急性肾损伤(exercise-induced acute kidney injury,EIAKI),部分临床医师对其认知不足,极易漏诊、误诊。解放军总医院第七医学中心肾脏病科收治1例反复出现EIAKI的患者,最终确诊为i RHUC(Ⅰ型),现报道如下。
作者
张慧
张文博
梁文琪
霍延红
ZHANG Hui;ZHANG Wenbo;LIANG Wenqi;HUO Yanhong(Department of Nephrology,First Medical Center of Chinese PLA General Hospital,Nephrology Institute of the Chinese People's Liberation Army,State Key Laboratory of Kidney Diseases,National Clinical Research Center for Kidney Diseases,Beijing Key Laboratory of Kidney Disease Research,Senventh Medical Center of Chinese PLA General Hospital,Beijing 100700,China)
出处
《军事医学》
2025年第2期158-160,共3页
Military Medical Sciences
