Cystinuria Registry at New York University Medical Center

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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.

07/09/2011

Contact registry form, this is the step to enroll participants!

Welcome to the Cystinuria Contact Registry. All form fields are mandatory. Your data will reside on a secure server at NYU School of Medicine.

07/09/2011

Read more about the cystinuria contact registry and join!

Please read the following text (download this agreement in pdf format) carefully before joining the Cystinuria Registry and the Cystinuria Contact Registry. You may wish to print a copy of this document for your files.

07/09/2011

Check the cystinuria web site at NYU

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 a

07/09/2011

Welcome to the Cystinuria Registry on Facebook

Address

New York, NY
10016

Website

http://www.med.nyu.edu/medicine/nephrology/research/current-investigations/nephrolithiasis-studies/cystinuria-registry-6

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