The genetic framework for development of nephrolithiasis

Abstract

Over 1%-15% of the population worldwide is affected by nephrolithiasis, which remains the most common and costly disease that urologists manage today. Identification of at-risk individuals remains a theoretical and technological challenge. The search for monogenic causes of stone disease has been largely unfruitful and a technological challenge; however, several candidate genes have been implicated in the development of nephrolithiasis. In this review, we will review current data on the genetic inheritance of stone disease, as well as investigate the evolving role of genetic analysis and counseling in the management of nephrolithiasis.

Keywords: Autosomal dominant polcystic kidney disease; Calcium sensing receptor; Cystinuria; Genetics; Hypercalciuria; Medullary sponge kidney; Nephrolithiasis; Uric acid nephrolithiasis; Urolithiasis.

Figure 1

Collecting tubule acid-base transporters involved in H⁺ secretion and ${\text{HCO}}_3^{\mathrm{-}}$-reabsorption by α-intercalated cells (A) and β-intercalated cells (B). AE1, anion exchanger 1; CAⅡ, carbonic anhydrase Ⅱ; CT, collecting tubule.