Clinical Information

Cystinuria is an inborn error of metabolism resulting from poor absorption and reabsorption of the amino acid cystine in the intestines and kidneys. This leads to an accumulation of poorly soluble cystine in the urine and results in the production of kidney stones (urolithiasis). Symptoms may include acute episodes of abdominal or lower back pain, presence of blood in the urine (hematuria), and recurrent episodes of kidney stones may result in frequent urinary tract infections, which may ultimately result in renal insufficiency. The combined incidence of cystinuria has been estimated to be 1 in 7000.

Cystinuria is an autosomal recessive disease, but some heterozygous carriers have an autosomal dominant, incomplete penetrance appearance with elevated, but typically nondisease causing, urinary cystine excretion. Cystinuria is caused by variants in genes, SLC3A1 on chromosome 2p and SLC7A9 on chromosome 19q. Initially, the disease was classified into subtypes I, II, and III (type II and III are also referred as nontype-I) based on the amount of urinary cystine excreted in heterozygous parental specimens. A new classification system has been proposed to distinguish the various forms of cystinuria: type A, due to variants in the SLC3A1 gene; type B, due to variants in the SLC7A9 gene; and type AB, due to 1 variant in each SLC3A1 and SLC7A9 gene.