Autosomal recessive Alport syndrome

Common Name(s)

Autosomal recessive Alport syndrome

Autosomal recessive Alport syndrome is a genetic condition that affects a person’s kidneys, eyes, and hearing. Almost everyone with autosomal recessive Alport syndrome will have blood in the urine (hematuria) and most will have protein in the urine (proteinuria). As time goes on, autosomal recessive Alport syndrome continues to damage the kidneys and can lead to kidney failure in some people. Other features of autosomal recessive Alport syndrome include hearing loss, which typically starts in late childhood or early teenage years, and eye abnormalities, which includes an abnormal shape to the lens (anterior lenticonus) and abnormal coloration to the back of the eye (retina). Eye changes in autosomal recessive Alport syndrome usually do not affect vision.

Autosomal recessive Alport syndrome is caused by changes (mutations) in either the COL4A3 or the COL4A4. These genes provide the instructions for the body to make type IV collagen, which is a protein needed for proper kidney blood vessel function, inner ear formation, and eye shape. As the name suggests, autosomal recessive Alport syndrome is inherited in an autosomal recessive way. This means a mutation in both copies of either the COL4A3 gene or the COL4A4 gene a person has is needed to cause the condition. Unlike X-linked Alport syndrome, males and females can be equally affected by this form of the condition.

Autosomal recessive Alport syndrome is considered in a person with kidney issues and hearing loss. Genetic testing is used to confirm the diagnosis. Treatment can involve medications to help kidney function. In severe cases, kidney transplant may be needed. Hearing aids can help with hearing loss. If your child has been diagnosed with autosomal recessive Alport syndrome, talk with their doctor to discuss current treatment options. Support groups can provide additional information.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Autosomal recessive Alport syndrome" for support, advocacy or research.

Alport Syndrome Foundation

Our MISSION is to educate and support patients and their families that have been affected by this genetic kidney disease with the goal of funding research to find more effective treatment protocols and a cure for Alport Syndrome.

Last Updated: 15 Apr 2014

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Alport Syndrome Hope for the Cure Foundation

To raise awareness of Alport Syndrome and other chronic kidney disease; provide support to families affected by Alport Syndrome and raise money to help fund diagnostic testing and gene therapy in hope for a cure.

Last Updated: 15 Mar 2013

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General Support Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Autosomal recessive Alport syndrome" for support, advocacy or research.

Alport Syndrome Foundation

Our MISSION is to educate and support patients and their families that have been affected by this genetic kidney disease with the goal of funding research to find more effective treatment protocols and a cure for Alport Syndrome.

http://www.alportsyndrome.org

Last Updated: 15 Apr 2014

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Alport Syndrome Hope for the Cure Foundation

To raise awareness of Alport Syndrome and other chronic kidney disease; provide support to families affected by Alport Syndrome and raise money to help fund diagnostic testing and gene therapy in hope for a cure.

http://www.hopeforthecure.org

Last Updated: 15 Mar 2013

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General Support Organizations

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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 "Autosomal recessive Alport syndrome" returned 9 free, full-text research articles on human participants. First 3 results:

COL4A3/COL4A4 mutations and features in individuals with autosomal recessive Alport syndrome.
 

Author(s): Helen Storey, Judy Savige, Vanessa Sivakumar, Stephen Abbs, Frances A Flinter

Journal: J. Am. Soc. Nephrol.. 2013 Dec;24(12):1945-54.

 

Alport syndrome is an inherited disease characterized by hematuria, progressive renal failure, hearing loss, and ocular abnormalities. Autosomal recessive Alport syndrome is suspected in consanguineous families and when female patients develop renal failure. Fifteen percent of patients ...

Last Updated: 2 Dec 2013

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A novel COL4A3 mutation causes autosomal-recessive Alport syndrome in a large Turkish family.
 

Author(s): Asli Subasioglu Uzak, Bulent Tokgoz, Munis Dundar, Mustafa Tekin

Journal: Genet Test Mol Biomarkers. 2013 Mar;17(3):260-4.

 

Alport syndrome (AS) is a genetically heterogeneous disorder that is characterized by hematuria, progressive renal failure typically resulting in end-stage renal disease, sensorineural hearing loss, and variable ocular abnormalities. Only 15% of cases with AS are autosomal recessive ...

Last Updated: 22 Feb 2013

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Characterization of the peripheral retinopathy in X-linked and autosomal recessive Alport syndrome.
 

Author(s): Elizabeth A Shaw, Deb Colville, Yan Yan Wang, Ke Wei Zhang, Hayat Dagher, Rob Fassett, Robyn Guymer, Judy Savige

Journal: Nephrol. Dial. Transplant.. 2007 Jan;22(1):104-8.

 

Alport syndrome is an inherited disease resulting in kidney failure, hearing loss and ocular abnormalities. Alport syndrome is however often unrecognized, and the aim of this study was to characterize the associated but rarely described peripheral retinopathy and determine whether ...

Last Updated: 25 Dec 2006

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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 "Autosomal recessive Alport syndrome" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Alport Syndrome Treatments and Outcomes Registry
 

Status: Recruiting

Condition Summary: Alport Syndrome

 

Last Updated: 3 Sep 2014

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European Alport Therapy Registry - European Initiative Towards Delaying Renal Failure in Alport Syndrome
 

Status: Recruiting

Condition Summary: Alport Syndrome; Hereditary Kidney Disease; Pediatric Kidney Disease; Thin Basement Membrane Disease; Familial Benign Hematuria

 

Last Updated: 26 Feb 2015

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ATHENA: Natural History of Disease Study in Alport Syndrome Patients
 

Status: Recruiting

Condition Summary: Alport Syndrome Patients With Measured GFR Between 30-75 ml/Min

 

Last Updated: 15 Jul 2015

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