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

Novel mutations in COL4A3, COL4A4, and COL4A5 in Chinese patients with Alport Syndrome.
 

Author(s): Jian-Hong Liu, Xiu-Xiu Wei, Ang Li, Ying-Xia Cui, Xin-Yi Xia, Wei-Song Qin, Ming-Chao Zhang, Er-Zhi Gao, Jun Sun, Chun-Lin Gao, Feng-Xia Liu, Qiu-Yue Wu, Wei-Wei Li, Asan, Zhi-Hong Liu, Xiao-Jun Li

Journal:

 

Alport syndrome (AS) is a clinically and genetically heterogeneous, progressive nephropathy caused by mutations in COL4A3, COL4A4, and COL4A5, which encode type IV collagen. The large sizes of these genes and the absence of mutation hot spots have complicated mutational analysis by ...

Last Updated: 25 May 2017

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[Clinical and pathological features and the misdiagnosis of childhood Alport syndrome: a retrospective analysis of 91 cases].
 

Author(s): Yan-Zhen Chen, Liang-Zhong Sun, Hai-Yan Wang, Xiao-Yun Jiang, Ying Mo, Zhi-Hui Yue, Hua-Mu Chen, Ting Liu, Hong-Rong Lin

Journal: Zhongguo Dang Dai Er Ke Za Zhi. 2017 Apr;19(4):371-375.

 

To explore the clinical and pathological features and the diagnosis of childhood Alport syndrome (AS).

Last Updated: 14 Apr 2017

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Toric multifocal intraocular lens implantation in a case of bilateral anterior and posterior lenticonus in Alport syndrome.
 

Author(s): Jeevan S Ladi, Nitant A Shah

Journal: Indian J Ophthalmol. 2016 Nov;64(11):847-849.

 

We report the first case of toric multifocal intraocular lens (IOL) implantation in both the eyes of a young patient of Alport syndrome with anterior and posterior lenticonus with a successful outcome. An 18-year-old female patient presented with progressively blurred vision in both ...

Last Updated: 13 Dec 2016

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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 17 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: 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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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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Clinical Trial Information This information is provided by ClinicalTrials.gov

Alport Syndrome Treatments and Outcomes Registry
 

Status: Recruiting

Condition Summary: Alport Syndrome

 

Last Updated: 24 Jan 2017

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Last Updated: 17 Jul 2017

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Urine, DNA and Clinical Information Collection From Patients With Alport Nephropathy.
 

Status: Recruiting

Condition Summary: Alport Nephropathy

 

Last Updated: 21 Apr 2017

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