Nakanishi Shotaro, Saito Ryoichi, Mizuno Kei, Matsuoka Takashi, Kita Yuki, Asai Seiji, Taoka Rikiya, Soda Takeshi, Inoue Koji, Terai Akito
The Department of Urology, Kurashiki Central Hospital, Japan.
Hinyokika Kiyo. 2011 Oct;57(10):551-4.
We report a case of bilateral renal calculi in a 1-year-old female with adenine phosphoribosyl transferase (APRT) partial deficiency. She initially visited another institution with high fever as the major complaint. Computed tomography revealed a bilateral renal stone and left hydro nephrosis. In the urine, there were 2, 8-dihydroxyadenine (DHA) crystals. An analysis of the APRT gene revealed the APRT deficiency and the genotype to be APRTJ/APRTQ0. We performed extracorporeal shock wave lithotripsy (ESWL) under general anesthesia, and as dissolution therapy we administered Meylon through the nephrostomy and citric acid orally. The stone disappeared from her kidney. The analysis of the stone fragments revealed 2,8- dihydroxyadenine (DHA) urolithiasis.
我们报告一例1岁女性双侧肾结石合并腺嘌呤磷酸核糖转移酶（APRT）部分缺乏症的病例。她最初因高热为主诉就诊于另一机构。计算机断层扫描显示双侧肾结石及左肾积水。尿液中存在2,8 - 二羟基腺嘌呤（DHA）晶体。对APRT基因的分析显示存在APRT缺乏症，基因型为APRTJ/APRTQ0。我们在全身麻醉下进行了体外冲击波碎石术（ESWL），并通过肾造瘘管给予美蓝以及口服柠檬酸作为溶石治疗。结石从她的肾脏消失。对结石碎片的分析显示为2,8 - 二羟基腺嘌呤（DHA）尿路结石。
