Alport Syndrome

Common Name(s)

Alport Syndrome, Alport syndrome, X-linked recessive

Alport syndrome is a genetic condition characterized by kidney disease, hearing loss, and eye abnormalities. Most affected individuals experience progressive loss of kidney function, usually resulting in end-stage kidney disease. People with Alport syndrome also frequently develop sensorineural hearing loss in late childhood or early adolescence. The eye abnormalities seen in this condition seldom lead to vision loss. In 80% of cases, Alport syndrome is inherited in an X-linked manner and is caused by mutations in the COL4A5 gene. In the remaining cases, it may be inherited in either an autosomal recessive or autosomal dominant manner and caused by mutations in the COL4A3 or COL4A4 genes. Treatment may include use of a hearing aid; hemodialysis and peritoneal dialysis to treat those with end-stage renal failure; and kidney transplantation.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "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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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "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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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 "Alport Syndrome" returned 116 free, full-text research articles on human participants. First 3 results:

Targeted exome sequencing integrated with clinicopathological information reveals novel and rare mutations in atypical, suspected and unknown cases of Alport syndrome or proteinuria.
 

Author(s): Rajshekhar Chatterjee, Mary Hoffman, Paul Cliften, Surya Seshan, Helen Liapis, Sanjay Jain

Journal:

 

We applied customized targeted next-generation exome sequencing (NGS) to determine if mutations in genes associated with renal malformations, Alport syndrome (AS) or nephrotic syndrome are a potential cause of renal abnormalities in patients with equivocal or atypical presentation. ...

Last Updated: 16 Oct 2013

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Temporal macular thinning associated with X-linked Alport syndrome.
 

Author(s): Faisal Ahmed, Kandon K Kamae, Denise J Jones, Margaret M Deangelis, Gregory S Hageman, Martin C Gregory, Paul S Bernstein

Journal: JAMA Ophthalmol. 2013 Jun;131(6):777-82.

 

Optical coherence tomography (OCT) findings of temporal macular thinning are important in the diagnosis and prognosis of X-linked Alport syndrome (XLAS).

Last Updated: 14 Jun 2013

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Prognostic value of glomerular collagen IV immunofluorescence studies in male patients with X-linked Alport syndrome.
 

Author(s): Laura Massella, Concetta Gangemi, Kostas Giannakakis, Antonella Crisafi, Tullio Faraggiana, Chiara Fallerini, Alessandra Renieri, Andrea Onetti Muda, Francesco Emma

Journal: Clin J Am Soc Nephrol. 2013 May;8(5):749-55.

 

X-linked Alport syndrome (X-AS) is caused by mutations of the COL4A5 gene, which encodes for the collagen IV α5 chain (α5[COLIV]), resulting in structural and functional abnormalities of the glomerular basement membrane (GBM) and leading to CKD. The aim of the present study was ...

Last Updated: 8 May 2013

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

Expert guidelines for the management of Alport syndrome and thin basement membrane nephropathy.
 

Author(s): Judy Savige, Martin Gregory, Oliver Gross, Clifford Kashtan, Jie Ding, Frances Flinter

Journal: J. Am. Soc. Nephrol.. 2013 Feb;24(3):364-75.

 

Few prospective, randomized controlled clinical trials address the diagnosis and management of patients with Alport syndrome or thin basement membrane nephropathy. Adult and pediatric nephrologists and geneticists from four continents whose clinical practice focuses on these conditions ...

Last Updated: 1 Mar 2013

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Glomerular pathology in Alport syndrome: a molecular perspective.
 

Author(s): Dominic Cosgrove

Journal: Pediatr. Nephrol.. 2012 Jun;27(6):885-90.

 

We have known for some time that mutations in the genes encoding 3 of the 6 type IV collagen chains are the underlying defect responsible for both X-linked (where the COL4A5 gene is involved) and autosomal (where either COL4A3 or COL4A4 genes are involved) Alport syndrome. The result ...

Last Updated: 26 Apr 2012

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Women and Alport syndrome.
 

Author(s): Michelle N Rheault

Journal: Pediatr. Nephrol.. 2012 Jan;27(1):41-6.

 

X-linked Alport syndrome (XLAS) is caused by mutations in type IV collagen causing sensorineural hearing loss, eye abnormalities, and progressive kidney dysfunction that results in near universal end-stage renal disease (ESRD) and the need for kidney transplantation in affected males. ...

Last Updated: 25 Nov 2011

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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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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: 26 Sep 2014

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Efficacy and Safety Study to Delay Renal Failure in Children With Alport Syndrome
 

Status: Recruiting

Condition Summary: Renal Insufficiency, Chronic

 

Last Updated: 7 Aug 2014

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