Objective: Cystine renal stone is the only clinical consequence of cystinuria, an autosomal recessive hereditary disease that affects an average of 1 out of 7,000 newborns, and whose geographical distribution varies significantly. The diagnosis and treatment of this condition is reviewed in the light of the advances in genetics and molecular biology.
Methods: The evolution of current knowledge about this disease is reviewed.
Results/conclusions: The advances over the last 8 years have led to the characterization, at the present time, of two genes responsible for this disease, which demonstrates its polygenic origin. By phenotype, cystinuria can be classified into two types: type 1 and non-type 1. Both types show genetic and biochemical, but not clinical differences. From the therapeutic viewpoint, the main objective is to eliminate existing calculi and, above all, prevent recurrence by acting on the pathophysiologic mechanisms of renal cystine. Experience shows that despite the correct use of our current therapeutic armamentarium and the application of the general guidelines discussed in this paper, some cystinuric patients still maintain an important stone-forming activity. Patient clinical evaluation and a genetic study of both patient and family will be decisive for phenotyping.