Division of Nephrology, Department of Internal Medicine and Medical Specialties, Columbus-Gemelli University Hospital, Catholic University, Rome, Italy.
Nephrol Dial Transplant. 2013 Apr;28(4):811-20. doi: 10.1093/ndt/gfs545. Epub 2013 Jan 4.
Nephrolithiasis is a common disorder, with a rising prevalence in the general population. Its pathogenesis is still unclear, but a role for genetics has long been recognized, especially in cases of the more common calcium nephrolithiasis. Although relatively rare, monogenic causes of hypercalciuria and nephrolithiasis do exist and their timely recognition is important from a prognostic and therapeutic viewpoint. This article reviews the clinical and laboratory findings characterizing inherited causes of nephrolithiasis with a view to helping clinicians to recognize and manage these rare conditions.
肾结石是一种常见疾病，在普通人群中的发病率呈上升趋势。其发病机制尚不清楚，但遗传因素的作用很早就得到了认可，尤其是在更为常见的钙肾结石病例中。虽然罕见，但确实存在单基因引起的高钙尿症和肾结石，从预后和治疗的角度来看，及时识别这些病因非常重要。本文回顾了肾结石的遗传性病因的临床和实验室发现，以期帮助临床医生识别和处理这些罕见疾病。
