Cystinuria Registry at New York University Medical Center

Cystinuria Registry at New York University Medical Center Cystinuria Registry, part of the Rare Kidney Stone Consortium Cystinuria is an important hereditary cause of kidney stones and kidney failure.

Most patients affected by this autosomal recessive disease have mutations in one of two known genes which each code for one component of the heterodimeric transport protein expressed in kidney that reabsorbs the amino acid cystine. Patients often have large stones, composed of cystine, and the stones are often recurrent. The disorder may result in chronic kidney disease. Cystinuria is a rare disease, affecting about 1/15,000 people in the United States. Heterozygote carriers are about 1/170 people. It accounts for approximately 1% of all renal stones.

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