A case of 2,8-dihydroxyadenine crystalline nephropathy caused by mutation of adenine phosphoribosyltransferase gene
10.3760/cma.j.cn441217-20231020-01032
- VernacularTitle: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
- Author:
Ran ZHANG
1
;
Weina JIANG
;
Zengsheng CHEN
;
Fenghai LIU
;
Leping SHAO
;
Haixia FU
Author Information
1. 青岛大学附属青岛市市立医院肾内科，青岛 266071
- Keywords:
Kidney diseases;
Adenine phosphoribosyltransferase;
Adenine;
2,8- dihydroxyadenine crystals;
Crystalline nephropathy
- From:
Chinese Journal of Nephrology
2024;40(7):561-564
- CountryChina
- Language:Chinese
-
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.
