Gopalakrishnan Natarajan, Rajasekar Dhanasekaran, Dhanapriya Jeyachandran, Dineshkumar Thanigachalam, Sakthirajan Ramanathan, Balasubramaniyan T, Murugesan V
Institute of Nephrology, Rajiv Gandhi Government General Hospital, Madras Medical College, Chennai, Tamil Nadu, India.
Saudi J Kidney Dis Transpl. 2018 Mar-Apr;29(2):462-465. doi: 10.4103/1319-2442.229280.
Adenine phosphoribosyltransferase deficiency is a rare, inherited autosomal recessive disease presenting with 2,8-dihydroxyadenine (DHA) urolithiasis, DHA nephropathy, and chronic kidney disease. The presence of DHA crystals in urine and renal biopsy is pathognomonic of the disease. We report a 23-year-old female with acute renal failure and nephrotic proteinuria. Urinalysis showed reddish brown, round crystals with dark outline, and central spicules consistent with 2,8-DHA crystals. Renal biopsy showed membranous nephropathy and 2,8-DHA nephropathy. Our patient improved with liberal fluid intake, restriction of high adenine content foods, and oral xanthine dehydrogenase inhibitor febuxostat. Early diagnosis and initiation of treatment prevent renal complications.
腺嘌呤磷酸核糖转移酶缺乏症是一种罕见的常染色体隐性遗传病，表现为2,8 - 二羟基腺嘌呤（DHA）尿路结石、DHA肾病和慢性肾病。尿液和肾活检中出现DHA晶体是该疾病的特征性表现。我们报告一例23岁急性肾衰竭和肾病性蛋白尿的女性患者。尿液分析显示有红棕色、圆形、轮廓深色且中央有针状突起的晶体，符合2,8 - DHA晶体。肾活检显示为膜性肾病和2,8 - DHA肾病。我们的患者通过大量饮水、限制高腺嘌呤含量食物以及口服黄嘌呤脱氢酶抑制剂非布司他后病情改善。早期诊断和开始治疗可预防肾脏并发症。
