Sreejith P, Narasimhan K L, Sakhuja V
Department of Nephrology, PGIMER, Chandigarh, India.
Indian J Nephrol. 2009 Jan;19(1):34-6. doi: 10.4103/0971-4065.50680.
Adenine phosphoribosyl transferase deficiency is a rare metabolic abnormality presenting with 2,8 dihydroxyadenine urolithiasis. The stones are characteristically radiolucent and therefore need to be differentiated from uric acid stones which are also radiolucent and have identical chemical reactivity. No cases of 2, 8- dihydroxyadenine urolithiasis have been reported from India. We report a 3 year old child with 2, 8- dihydroxyadenine urolithiasis and acute renal failure.
腺嘌呤磷酸核糖转移酶缺乏症是一种罕见的代谢异常疾病，表现为2,8 - 二羟基腺嘌呤尿路结石。这些结石的特点是透X线，因此需要与同样透X线且具有相同化学反应性的尿酸结石相鉴别。印度尚未报道过2,8 - 二羟基腺嘌呤尿路结石的病例。我们报告了一名患有2,8 - 二羟基腺嘌呤尿路结石和急性肾衰竭的3岁儿童。
