PROGRESS IN THE GENERICS OF CYSTINURIA

Cystinuria is an aminoacid disease due to a defect of intestinal and r enal tubular transport of cystine and various basic amino acids (lysin e, arginine and ornithine). The disease is transmitted horizontally ac cording to an autosomal recessive pattern [1]. The overall prevalence is one per 7,000 live births [2]. It is the commonest hereditary disea se affecting amino acid transport (MIM 220100). This disease is charac terized by excessive urinary excretion of cystine and basic amino acid s. From a clinical point of view, almost 50% of homozygotes will devel op cystine renal stones with urinary tract infection, renal colic, par tial or total obstruction of the urinary tract and possibly loss of re nal function [3].