Consortium for Hereditary Causes of Nephrolithiasis and Renal Failure - Cystinuria

David S Goldfarb, MD

Project Summary and relevance

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.

In this Rare Disease Center (RDC) proposal, funded by NIDDK and the Office of Rare Diseases (ORD), a cystinuria registry, modeled on the successful primary hyperoxaluria registry maintained at Mayo Clinic, will be established. Patients will be enrolled through solicitation of urology and nephrology clinical practices as well as our strong alliances with the two relevant patient organizations, the Cystinuria Support Network (CSN) and the International Cystinuria Foundation (ICF).

Although the genetic defects underlying cystinuria are well described, many features of the disease important to optimizing treatment remain poorly understood. Previous studies have lacked sufficient patient numbers and long term follow up. Important questions to be studied in this proposal include: 1) what factors other than genotype, such as age, gender, diet, and medications affect stone formation; 2) what risks factors account for the increased risk of chronic kidney disease in cystinuria; 3) in which patients is treatment with cystine-binding thiol drugs most clinically effective.

The cystinuria registry will lead to the largest longitudinal clinical registry to allow determination of the risk factors for chronic kidney disease and stone recurrence in patients with cystinuria. We will work closely with patient support groups to encourage registry enrollment and disseminate knowledge and information to patients and practitioners.

Status: Approved, open for enrollment summer 2010
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Registry Advertisement (61KB, pdf format)


Health-related Qulaity of Life in Cystinuria Stone formers (F. Modersitzki)

Cystinuria Newsletter:

Issue 1 - August 2011

Issue 2 - Fall/Winter 2012

Issue 3 - Fall/Winter 2013/14