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
张然 1姜维娜 2陈增生 3刘丰海 3邵乐平 1傅海霞1
作者信息
- 1. 青岛大学附属青岛市市立医院肾内科,青岛 266071
- 2. 青岛大学附属青岛市市立医院病理科,青岛 266071
- 3. 青岛大学附属青岛市市立医院检验科,青岛 266071
- 折叠
摘要
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.521_523delTCT),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.
Abstract
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.
关键词
肾疾病/腺嘌呤磷酸核糖基转移酶/腺嘌呤/2,8-二羟基腺嘌呤结晶/结晶性肾病Key words
Kidney diseases/Adenine phosphoribosyltransferase/Adenine/2,8-dihydroxyadenine crystals/Crystalline nephropathy引用本文复制引用
基金项目
国家自然科学基金面上项目(82170717)
出版年
2024
NETL
NSTL
万方数据