Genetic Basis of Renal Stones
© 2013 American Society for Bone and Mineral Research. All rights reserved. This chapter focuses on the genetics of renal stones and in particular those associated with hypercalciuric renal stone disease (nephrolithiasis) in man. The greatest risk factor for nephrolithiasis, after controlling for known dietary determinants, is having an affected family member. Families with idiopathic hypercalciuria (IH) and recurrent calcium oxalate stones usually reveal an autosomal dominant mode of inheritance. Patients with autosomal dominant hypocalcaemia with hypercalciuria (ADHH) usually have mild hypocalcaemia that is generally asymptomatic but may in some patients be associated with carpopedal spasm and seizures. Studies of monogenic forms of hypercalciuric nephrolithiasis, e.g., Bartter syndrome, Dent's disease, autosomal dominant hypocalcemic hypercalciuria, hypercalciuric nephrolithiasis with hypophosphatemia, and familial hypomagnesemia with hypercalciuria have helped to identify a number of transporters, channels, and receptors that are involved in regulating the renal tubular reabsorption of calcium.