腺嘌呤磷酸核糖转移酶基因突变导致2,8-二羟基腺嘌呤结晶性肾病1例

A case of 2,8-dihydroxyadenine crystalline nephropathy caused by mutation of adenine phosphoribosyltransferase gene

该文报道1例由腺嘌呤磷酸核糖转移酶(adenine phosphoribosyltransferase,APRT)基因突变导致的2,8-二羟基腺嘌呤(2,8-dihydroxyadenine,2,8-DHA)结晶性肾病病例。患者,女,60岁,因发现"尿泡沫增多半年"就诊。肾活检光镜下可见不规则的棕黄色、偏振光下具有折光性的2,8-DHA结晶,尿沉渣检测发现2,8-DHA结晶,基因检测发现APRT基因5号外显子纯合缺失(c.521523delTCT),最终确诊为2,8-DHA结晶性肾病。经别嘌醇治疗后,患者肾功能好转。该病例报告旨在提高临床医师对2,8-DHA结晶性肾病的认识,早期识别、正确诊断及早期药物干预可延缓肾衰竭进展,改善预后。

The paper reports a case of 2,8-dihydroxyadenine(2,8‐DHA)crystalline nephropathy caused by mutation of adenine phosphoribosyltransferase(APRT)gene.The female patient was 60 years old,and sought medical advice due to"foaming urine increased for half a year".Renal biopsy result showed irregular yellowish brown 2,8‐DHA crystals with refraction under polarized light.2,8‐DHA crystals were found by urine sediment detection,and homozygous deletion of c.521_523delTCT on exon 5 of APRT gene was found by genetic testing.Finally this patient was diagnosed as 2,8‐DHA crystalline nephropathy.Renal function improved after treatment with allopurinol.The case report aims to improve the clinician's understanding of 2,8‐DHA crystalline nephropathy.Early recognition,correct diagnosis,and early drug intervention may delay the progression of renal failure and improve the prognosis.