Alport syndrome

Common Name(s)

Alport syndrome

Alport syndrome is a genetic condition that affects a person’s kidneys, eyes, and hearing. Almost everyone with Alport syndrome will have blood in the urine (hematuria) and most will have protein in the urine (proteinuria). As time goes on, Alport syndrome continues to damage the kidneys and may lead to kidney failure in some people. Other features of 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 Alport syndrome usually do not affect vision.

Alport syndrome is caused by changes (mutations) in a few genes, including COL4A3, COL4A4, and COL4A5. All three of these genes provide 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. When a person has mutations in one of these genes, type IV collagen is not made correctly, which leads to the symptoms of Alport syndrome. Alport syndrome is caused by mutations in the COL4A5 gene in 80% of cases and by mutations in the COL4A3 and COL4A4 genes in 15% of cases. Alport syndrome caused by COL4A5 gene mutations is inherited in an X-linked recessive manner and, when it is caused by mutations in COL4A3 and COL4A4, it is inherited in an autosomal recessive manner.

A diagnosis of Alport syndrome is considered in a person with kidney issues and hearing loss. Genetic testing is used to confirm the diagnosis. Treatment usually involves medications to help protect kidney function and, in severe cases, a kidney transplant may be needed. Hearing aids can help with hearing loss. If your child has been diagnosed with 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 "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 "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 "Alport syndrome" returned 118 free, full-text research articles on human participants. First 3 results:

Identification of microRNAs and their target genes in Alport syndrome using deep sequencing of iPSCs samples.
 

Author(s): Wen-biao Chen, Jian-rong Huang, Xiang-qi Yu, Xiao-cong Lin, Yong Dai

Journal: J Zhejiang Univ Sci B. 2015 Mar;16(3):235-50.

 

MicroRNAs (miRNAs) are a class of small RNA molecules that are implicated in post-transcriptional regulation of gene expression during development. The discovery and understanding of miRNAs has revolutionized the traditional view of gene expression. Alport syndrome (AS) is an inherited ...

Last Updated: 6 Mar 2015

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Alport syndrome in a Kazakh family: a case study.
 

Author(s): Elena V Zholdybayeva, Saule E Rakhimova, Barshagul T Baikara, Nazym B Nigmatullina, Nagima M Mustapayeva, Kuvat T Momynaliev

Journal: J. Genet.. 2014 Dec;93(3):855-8.

 

Last Updated: 9 Jan 2015

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Pathology vs. molecular genetics: (re)defining the spectrum of Alport syndrome.
 

Author(s): Jeffrey H Miner

Journal: Kidney Int.. 2014 Dec;86(6):1081-3.

 

Malone et al. performed next-generation sequencing on 70 families with focal segmental glomerulosclerosis (FSGS) and discovered that 10% had variants in surprising 'old' genes, COL4A3 and COL4A4, which are involved in Alport syndrome and thin basement membrane nephropathy. These data ...

Last Updated: 27 Nov 2014

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

Alport syndrome: its effects on the glomerular filtration barrier and implications for future treatment.
 

Author(s): Judy Savige

Journal: J. Physiol. (Lond.). 2014 Sep;592(Pt 18):4013-23.

 

The glomerular filtration barrier comprises a fenestrated capillary endothelium, glomerular basement membrane and podocyte slit diaphragm. Over the past decade we have come to realise that permselectivity depends on size and not necessarily charge, that the molecular sieve depends ...

Last Updated: 16 Sep 2014

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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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Clinical Trial Information This information is provided by ClinicalTrials.gov

Alport Syndrome Treatments and Outcomes Registry
 

Status: Recruiting

Condition Summary: Alport Syndrome

 

Last Updated: 30 Nov 2015

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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: 30 Nov 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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