Rather Jawad Iqbal, Fatima Mukaresh, Wani Muzafar Maqsood, Khan Imran, Wani Muzamil Ahmad, Farooq Amir
Department of Nephrology, Sher-I-Kashmir Institute of Medical Sciences, Srinagar. India.
Clin Nephrol Case Stud. 2025 Mar 25;13:37-40. doi: 10.5414/CNCS111590. eCollection 2025.
Adenine phosphoribosyltransferase (APRT) deficiency is a rare autosomal disorder with extremely variable presentation. The disease spectrum ranges from completely asymptomatic to 2,8-dihydroxyadenine (DHA) stones to massive deposition of DHA crystals leading to DHA crystalline nephropathy. We report a case of a 45-year-old woman who presented with acute kidney injury and recurrent vomiting. Kidney biopsy revealed precipitation of brown crystals in tubular lumina with acute tubular injury with characteristic birefringence on polarizing light, confirming the unexpected diagnosis of DHA crystalline nephropathy. She was started on a xanthine oxidase inhibitor which resulted in an improvement of kidney function. This case highlights the fact that APRT deficiency can have varied presentations and is an important hereditary cause of crystalline nephropathy.
腺嘌呤磷酸核糖转移酶（APRT）缺乏症是一种罕见的常染色体疾病，临床表现极为多样。其疾病谱涵盖从完全无症状到出现2,8 - 二羟基腺嘌呤（DHA）结石，再到DHA晶体大量沉积导致DHA结晶性肾病。我们报告一例45岁女性病例，该患者表现为急性肾损伤和反复呕吐。肾脏活检显示肾小管腔内有棕色晶体沉淀，伴有急性肾小管损伤，在偏振光下具有特征性双折射，从而确诊为意外的DHA结晶性肾病。她开始使用黄嘌呤氧化酶抑制剂治疗，肾功能得到改善。该病例凸显了APRT缺乏症可呈现多种表现，且是结晶性肾病的重要遗传病因这一事实。
