Zöllner N, Gresser U
Medizinische Poliklinik, Universität München.
Bildgebung. 1990;57(3-4):64-6.
We describe the first case of twins with complete APRT-deficiency, indicating homozygosity, and 2.8-dihydroxyadenine stones in both kidneys. The stones were discovered accidentally during a routine abdominal ultrasound examination, and thus the diagnosis of an inborn error of metabolism, was established. In nephrolithiasis caused by an inborn error of metabolism, early diagnosis and therapy are of great importance for prognosis and quality of life.
我们描述了首例患有完全性腺嘌呤磷酸核糖转移酶（APRT）缺乏症的双胞胎病例，显示为纯合子状态，且双肾均有2,8 - 二羟基腺嘌呤结石。这些结石是在常规腹部超声检查中意外发现的，从而确诊为一种先天性代谢缺陷病。在由先天性代谢缺陷引起的肾结石病中，早期诊断和治疗对于预后和生活质量至关重要。
