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

Study of the True Clinical Progression of Autosomal Dominant Alport Syndrome in a European Population.
 

Author(s): Consolación Rosado, Elena Bueno, Carmen Felipe, Sebastián Valverde, Rogelio González-Sarmiento

Journal: Kidney Blood Press. Res.. 2015 ;40(4):435-42.

 

Autosomal dominant Alport syndrome represents 5% of all Alport syndrome cases. This entity presents a different clinical expression from the recessive inheritance pattern and the X chromosome-linked pattern, because it is mild and it shows a late onset, which in many cases even goes unnoticed.

Last Updated: 17 Aug 2015

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The Accumulation of VEGFA in the Glomerular Basement Membrane and Its Relationship with Podocyte Injury and Proteinuria in Alport Syndrome.
 

Author(s): Haiyan Wang, Zhihui Yue, Jinlang Wu, Ting Liu, Ying Mo, Xiaoyun Jiang, Liangzhong Sun

Journal:

 

The pathogenesis of proteinuria in Alport syndrome (AS) remains unclear. Vascular endothelial growth factor A (VEGFA) is a key regulator of the glomerular filtration barrier (GFB). This study explored the expression of VEGFA in the glomeruli and its accumulation in the glomerular ...

Last Updated: 15 Aug 2015

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A Novel Mutation in a Kazakh Family with X-Linked Alport Syndrome.
 

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

Journal:

 

Alport syndrome is a genetic condition that results in hematuria, progressive renal impairment, hearing loss, and occasionally lenticonus and retinopathy. Approximately 80% of Alport syndrome cases are caused by X-linked mutations in the COL4A5 gene encoding type IV collagen. The ...

Last Updated: 14 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 "Alport syndrome" returned 20 free, full-text review articles on human participants. First 3 results:

Ocular features in Alport syndrome: pathogenesis and clinical significance.
 

Author(s): Judy Savige, Shivanand Sheth, Anita Leys, Anjali Nicholson, Heather G Mack, Deb Colville

Journal: Clin J Am Soc Nephrol. 2015 Apr;10(4):703-9.

 

Alport syndrome is an inherited disease characterized by progressive renal failure, hearing loss, and ocular abnormalities. Mutations in the COL4A5 (X-linked), or COL4A3 and COL4A4 (autosomal recessive) genes result in absence of the collagen IV α3α4α5 network from the basement ...

Last Updated: 8 Apr 2015

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Alport syndrome from bench to bedside: the potential of current treatment beyond RAAS blockade and the horizon of future therapies.
 

Author(s): Oliver Gross, Laura Perin, Constantinos Deltas

Journal: Nephrol. Dial. Transplant.. 2014 Sep;29 Suppl 4():iv124-30.

 

The hereditary type IV collagen disease Alport syndrome (AS) always leads to end-stage renal failure. Yesterday, for the past 90 years, this course was described as 'inevitable'. Today, RAAS blockade has changed the 'inevitable' course to a treatable disease. Tomorrow, researchers ...

Last Updated: 28 Aug 2014

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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(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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Symptoms, Diagnosis, and Treatment

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

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Biomarker for Patient With Alport Disease or Highly Suspected for Alport Disease
 

Status: Recruiting

Condition Summary: Nephritis, Hereditary; Alport Syndrome; Alport Syndrome, Autosomal Dominant; Alport Syndrome, Autosomal Recessive; Hematuria-Nephropathy-Deafness Syndrome

 

Last Updated: 19 Sep 2016

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Alport Syndrome Treatments and Outcomes Registry
 

Status: Recruiting

Condition Summary: Alport Syndrome

 

Last Updated: 16 Sep 2016

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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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