我们介绍了一个原因不明的肾脏疾病的年轻白人患者,通过肾活检确定的晚期良性肾血管硬化的最终诊断。由于在儿科年龄有高血压的可能性(没有研究或治疗),肾活检结果,遗传研究显示APOL1和MYH9的多态性风险,也是纯合子中NPHP1基因完全缺失的意外诊断,与肾单位的发展有关。总之,这个案例说明了在病因不明的肾脏疾病的年轻患者中进行基因研究的重要性,甚至有肾动脉硬化的组织学诊断。
We present the case of a young Caucasian patient with renal disease of unclear cause, with a final diagnosis of advanced benign nephroangiosclerosis established by renal biopsy. Due to the possibility of having hypertension in pediatric age (without
study or treatment), with the renal biopsy findings, the genetic
study showed polymorphisms risk in the APOL1 and MYH9, and also an unexpected diagnosis of a complete deletion of the NPHP1 gene in homozygosis, associated with the development of
nephronophthisis. In conclusion, this case illustrates the importance of carrying out a genetic
study in youngs patients with renal disease unclear cause, even having a histological diagnosis of nephroangiosclerosis.