Cystinuria

Common Name(s)

Cystinuria

Cystinuria is an inherited condition characterized by the buildup of cystine crystals or stones in the kidneys and bladder. Cystine is an amino acid, one of the building blocks of proteins. As the kidneys filter blood to create urine, cystine is normally absorbed back into the bloodstream. People with cystinuria cannot properly reabsorb cystine into their bloodstream and the amino acid accumulates in their urine, eventually forming crystals. As these crystals become larger, they form stones that may lodge in the kidneys or in the bladder. Sometimes cystine crystals combine with calcium molecules in the kidneys to form larger stones. These crystals and stones can create blockages in the urinary tract and reduce the ability of the kidneys to eliminate waste through urine. The stones also provide sites where bacteria may cause infections. Cystinuria is caused by mutations in the SLC3A1 and SLC7A9 genes. It is inherited in an autosomal recessive pattern. The goal of treatment is to relieve symptoms and prevent more stones.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Cystinuria" for support, advocacy or research.

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Cystinuria Support Network

Cystinuria Support Network is a non-profit organisation offering support to persons with cystinuria and their families, friends and caregivers.

Last Updated: 24 Nov 2009

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International Cystinuria Foundation Incorporated

The Mission of the International Cystinuria Foundation is to strengthen, educate, and further the general well being of the cystinuric community. We aim to support a growing and strong group of patients, families, professionals, and friends by providing educational and health related resources to affected individuals worldwide. We also aim 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.

Last Updated: 24 Nov 2009

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General Support Organizations

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How do you compare to others with this condition?

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Cystinuria" for support, advocacy or research.

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Cystinuria Support Network

Cystinuria Support Network is a non-profit organisation offering support to persons with cystinuria and their families, friends and caregivers.

http://www.cystinuria.com

Last Updated: 24 Nov 2009

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International Cystinuria Foundation Incorporated

The Mission of the International Cystinuria Foundation is to strengthen, educate, and further the general well being of the cystinuric community. We aim to support a growing and strong group of patients, families, professionals, and friends by providing educational and health related resources to affected individuals worldwide. We also aim 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.

http://www.cystinuria.org

Last Updated: 24 Nov 2009

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Cystinuria" returned 62 free, full-text research articles on human participants. First 3 results:

Isolated hyperechoic fetal colon before 36 weeks' gestation reveals cystinuria.
 

Author(s): S Amat, I Czerkiewicz, J-F Benoist, D Eurin, M Fontanges, F Muller

Journal: Ultrasound Obstet Gynecol. 2011 Nov;38(5):543-7.

 

To determine whether there is an association between the fetal ultrasound finding of hyperechoic colon and the gestational age at which it presents and cystinuria.

Last Updated: 26 Oct 2011

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Clinical utility gene card for: Cystinuria.
 

Author(s): Thomas Eggermann, Klaus Zerres, Virginia Nunes, Mariona Font-Llitjós, Luigi Bisceglia, Anthoula Chatzikyriakidou, Luca dello Strologo, Elon Pras, John Creemers, Manuel Palacin

Journal: Eur. J. Hum. Genet.. 2012 Feb;20(2):.

 

Last Updated: 12 Jan 2012

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Cystinuria AA (B): digenic inheritance with three mutations in two cystinuria genes.
 

Author(s): Zoran Gucev, Nadica Ristoska-Bojkovska, Katerina Popovska-Jankovic, Emilija Sukarova-Stefanovska, Velibor Tasic, Dijana Plaseska-Karanfilska, Georgi D Efremov

Journal: J. Genet.. 2011 Apr;90(1):157-9.

 

Last Updated: 16 Jun 2011

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Cystinuria" returned 5 free, full-text review articles on human participants. First 3 results:

Cystinuria: an inborn cause of urolithiasis.
 

Author(s): Thomas Eggermann, Andreas Venghaus, Klaus Zerres

Journal:

 

Cystinuria (OMIM 220100) is an inborn congenital disorder characterised by a defective cystine metabolism resulting in the formation of cystine stones. Among the heterogeneous group of kidney stone diseases, cystinuria is the only disorder which is exclusively caused by gene mutations. ...

Last Updated: 20 Jul 2012

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[Cystinuria: diagnosis and therapeutic approach].
 

Author(s): C M Cabrera Morales

Journal: An Sist Sanit Navar. ;34(3):453-61.

 

Cystinuria is an aminoaciduria due to the impairment of transport of cystine and dibasic amino acids (arginine, ornithine, and lysine) in the apical membrane of the intestinal epithelium and proximal renal tubule. The result is an absence of cystine reabsorption in the renal tubule ...

Last Updated: 11 Jan 2012

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Potential pharmacologic treatments for cystinuria and for calcium stones associated with hyperuricosuria.
 

Author(s): David S Goldfarb

Journal: Clin J Am Soc Nephrol. 2011 Aug;6(8):2093-7.

 

Two new potential pharmacologic therapies for recurrent stone disease are described. The role of hyperuricosuria in promoting calcium stones is controversial with only some but not all epidemiologic studies demonstrating associations between increasing urinary uric acid excretion ...

Last Updated: 9 Aug 2011

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Last Updated: 25 Apr 2014

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Rare Kidney Stone Consortium Patient Registry
 

Status: Recruiting

Condition Summary: Primary Hyperoxaluria; Dent Disease; Cystinuria; APRT Deficiency

 

Last Updated: 16 Sep 2014

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Biobank Protocol, Rare Diseases Clinical Research Network
 

Status: Recruiting

Condition Summary: Primary Hyperoxaluria; Dent Disease; APRT Deficiency; Cystinuria

 

Last Updated: 16 Sep 2014

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