[Advancements in the genetics of cystinuria]

Abstract

Cystinuria is an amino acid disease due to a defect of intestinal and renal tubular transport of cystine and various basic amino acids (lysine, arginine and ornithine). The disease is transmitted horizontally according to an autosomal recessive pattern. The overall prevalence is one per 7,000 live births. It is the commonest hereditary disease affecting amino acid transport (MIM 220100). This disease is characterized by excessive urinary excretion of cystine and basic amino acids. From a clinical point of view, almost 50% of homozygotes will develop cystine renal stones with urinary tract infection, renal colic, partial or total obstruction of the urinary tract and possibly loss of renal function.