Nephrolithiasis in patients with duchenne muscular dystrophy

To present the first series of patients with Duchenne muscular dystrophy (DMD) and nephrolithiasis.

A retrospective chart review was done to identify patients with DMD who were referred for urologic consultation because of nephrolithiasis from June 2004 to April 2006.

Four patients were identified with DMD and nephrolithiasis. Of the 4 patients, 2 underwent treatment, and their stones were obtained for analysis. The other 2 patients had stones diagnosed by computed tomography. Their stones were passed but not retrieved. Stone analysis for the available patients revealed a mixed calcareous composition. All 4 patients had had a relatively small stone burden. The patients ranged in age from 18 to 31 years.

Stone disease appears to have many of the same characteristics in patients with DMD as it does in the general population. Risk factors, including immobilization and corticosteroid use, are present. Additional studies are needed before conclusions can be made regarding the associations between DMD and nephrolithiasis.