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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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 100 free, full-text research articles on human participants. First 3 results:

A Novel Mutation in SLC3A1 Gene in Patients With Cystinuria.
 

Author(s): Samaneh Markazi, Majid Kheirollahi, Abbas Doosti, Mehrdad Mohammadi, Leila Koulivand

Journal: Iran J Kidney Dis. 2016 Jan;10(1):44-7.

 

Cystinuria is an inherited disease characterized by the formation of cystine calculi in the kidneys, ureters,  and bladder. Cystinuria is associated with mutation in the SLC3A1 and SLC7A9 genes. These defects prevent appropriate reabsorption of dibasic amino acids lysine, ornithine, ...

Last Updated: 3 Feb 2016

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Novel cystine transporter in renal proximal tubule identified as a missing partner of cystinuria-related plasma membrane protein rBAT/SLC3A1.
 

Author(s): Shushi Nagamori, Pattama Wiriyasermkul, Meritxell Espino Guarch, Hirohisa Okuyama, Saya Nakagomi, Kenjiro Tadagaki, Yumiko Nishinaka, Susanna Bodoy, Kazuaki Takafuji, Suguru Okuda, Junko Kurokawa, Ryuichi Ohgaki, Virginia Nunes, Manuel Palacín, Yoshikatsu Kanai

Journal: Proc. Natl. Acad. Sci. U.S.A.. 2016 Jan;113(3):775-80.

 

Heterodimeric amino acid transporters play crucial roles in epithelial transport, as well as in cellular nutrition. Among them, the heterodimer of a membrane protein b(0,+)AT/SLC7A9 and its auxiliary subunit rBAT/SLC3A1 is responsible for cystine reabsorption in renal proximal tubules. ...

Last Updated: 20 Jan 2016

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Clinical and genetic analysis of patients with cystinuria in the United Kingdom.
 

Author(s): Hannah L Rhodes, Laura Yarram-Smith, Sarah J Rice, Ayla Tabaksert, Noel Edwards, Alice Hartley, Mark N Woodward, Sarah L Smithson, Charles Tomson, Gavin I Welsh, Margaret Williams, David T Thwaites, John A Sayer, Richard J M Coward

Journal: Clin J Am Soc Nephrol. 2015 Jul;10(7):1235-45.

 

Cystinuria is a rare inherited renal stone disease. Mutations in the amino acid exchanger System b(0,+), the two subunits of which are encoded by SLC3A1 and SLC7A9, predominantly underlie this disease. The work analyzed the epidemiology of cystinuria and the influence of mutations ...

Last Updated: 8 Jul 2015

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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 8 free, full-text review articles on human participants. First 3 results:

Update on cystinuria.
 

Author(s): Nicola Sumorok, David S Goldfarb

Journal: Curr. Opin. Nephrol. Hypertens.. 2013 Jul;22(4):427-31.

 

Cystinuria is a rare genetic disease with increased urinary excretion of the poorly soluble amino acid cystine. It can lead to significant morbidity in affected patients due to the often large and recurrent resulting kidney stones. Treatment is focused on the prevention of stone formation. ...

Last Updated: 5 Jun 2013

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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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Symptoms, Diagnosis, and Treatment

There are currently no related results available in Genetics Home Reference.

There are currently no related results available in GeneReviews.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Trial in Patients With Cystinuria
 

Status: Not yet recruiting

Condition Summary: Cystinuria

 

Last Updated: 23 Oct 2016

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TCUPS- Tolvaptan Use in Cyctinuria and Urolithiasis: A Pilot Study
 

Status: Not yet recruiting

Condition Summary: Cystinuria

 

Last Updated: 25 Jul 2016

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Lipoic Acid Supplement for Cystine Stone
 

Status: Not yet recruiting

Condition Summary: Cystinuria

 

Last Updated: 21 Sep 2016

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