Cystinuria

Cystinuria is a rare genetic disorder characterized by the formation of cystine kidney stones.1

In the U.S., one in 10,000 people are at risk genetically for cystinuria and at least half of these individuals will suffer from cystine kidney stones.2 Patients with this chronic disorder may develop it at a young age, and in children, cystinuria is the cause of up to 10 percent of all kidney stones.3

The symptoms of cystinuria may include pain while urinating, blood in the urine, sharp pain in the side or the back (almost always on one side), pain near the groin, pelvis, or abdomen, as well as nausea and vomiting.4

Cystinuria is caused by a genetic defect that results in a buildup of cystine in the urine.3 Cystine does not easily dissolve in water, and when there is too much cystine in the urine, kidney stones can form.4 The accumulation of cystine causes crystallization when concentrations of cystine rise above the solubility limit (approximately 250 mg cystine per liter of urine).3,5

The goal of therapy is to reduce the concentration of cystine in the urine below its solubility limit. It may be accomplished by dietary means and by a high fluid intake in order to increase urine volume and in turn, lower cystine concentration.5

Unfortunately, these approaches may be ineffective on their own in controlling cystine stone formation in certain patients with severe cystinuria.5 Learn more about an FDA-approved medication that may be right for certain people with severe cystinuria.

The following organizations may be a resource for information and support for people with cystinuria and those around them:

International Cystinuria Foundation

The International Cystinuria Foundation (ICF) is a 501(c)3 non-profit organization that aims to support a growing and strong group of patients, families, professionals, and friends by providing educational and health related resources to affected individuals worldwide. The ICF also aims to promote knowledge of cystinuria within the research and medical communities in order to reduce kidney destruction, renal impairment, and subsequent health, vocational, and economic impact.

National Kidney Foundation

The National Kidney Foundation is the leading organization in the U.S. dedicated to the awareness, prevention and treatment of kidney disease for hundreds of thousands of healthcare professionals, millions of patients and their families, and tens of millions of Americans at risk.

Kidney & Urology Foundation of America

The Kidney & Urology Foundation of America is a major voluntary 501c3 nonprofit health organization which, for six decades has developed and supported programs that improve the lives of those suffering from kidney and urologic diseases and those who wait for organ or tissue transplants.

American Kidney Fund

The American Kidney Fund (AKF) is the nation’s leading nonprofit working on behalf of the 31 million Americans with kidney disease. AKF helps people fight kidney disease and live healthier lives by providing a complete spectrum of programs and services: prevention activities, top-rated health educational resources, and direct financial assistance enabling 1 in 5 U.S. dialysis patients to access lifesaving medical care, including dialysis and transplantation. AKF also invests in clinical research to improve outcomes for kidney patients, and fights tirelessly on Capitol Hill for legislation and policies supporting the issues that are important to kidney patients. The organization provides these critically needed services while maintaining a 4-star rating from Charity Navigator, which ranks AKF in its list of top 10 charities in the United States for excellent fiscal management. AKF spends 97 cents of every donated dollar is spent on programs that directly serve and educate patients and the public.

Global Genes

Global Genes is a non-profit patient advocacy organization working to eliminate the challenges of rare disease by building awareness, educating the global community, and providing critical connections and resources that equip advocates to become activists for their disease.  Global Genes promotes the needs of the rare disease community under a unifying symbol of hope – the Blue Denim Genes Ribbon™. Numerous tools, resources and educational events can be found on the Global Genes website www.globalgenes.org.

National Organization for Rare Disorders

The National Organization for Rare Disorders (NORD) is a unique federation of voluntary health organizations dedicated to helping people with rare "orphan" diseases and assisting the organizations that serve them. NORD is committed to the identification, treatment and cure of rare disorders through programs of education, advocacy, research and service. In the US, NORD is also the official sponsor of Rare Disease Day, an annual global observance that raises awareness of rare diseases and elevates them into the public consciousness as an important health issue that cannot be ignored.

EURORDIS

EURORDIS is a non-governmental patient-driven alliance of more than 700 rare disease patient organisations in more than 60 countries. EURORDIS strives to build a strong pan-European community of patient organisations and people living with a rare disease, to be their voice at the European level, and - directly or indirectly - to fight against the impact of rare diseases on their lives. EURORDIS leads global efforts for Rare Disease Day and the online social platform for people living with or affected by a rare diseases RareConnect. EURORDIS represents the voice of an estimated 30 million people living with a rare disease in Europe. Follow @eurordis or see the EURORDIS Facebook page. For more information visit: www.eurordis.org.

 

 

  1. Genetics Home Reference. Cystinuria. Available at: https://ghr.nlm.nih.gov/condition/cystinuria. Last accessed: July 28, 2016.
  2. Knoll T, et al. Pediatr Nephrol. 2005; 20:19 24.
  3. Biyani CS, et al. EAU-EBU Update Series. 2006;4:175-183.
  4. The National Kidney Foundation. What Are Cystine Stones? Available at: https://www.kidney.org/atoz/content/what-are-cystine-stones. Last accessed: July 28, 2016.
  5. THIOLA® (tiopronin) tablets [prescribing information]. San Antonio, TX. Mission Pharmacal Company.