X-linked Alport syndrome

Common Name(s)

X-linked Alport syndrome

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

X-linked Alport syndrome is caused by changes (mutations) in the COL4A5 gene, which provides the instructions for the body to make type IV collagen, a protein needed for proper kidney blood vessel function, inner ear formation, and eye shape. A mutation in the COL4A5 gene leads to abnormal type IV collagen production, which causes the symptoms of X-linked Alport syndrome. The COL4A5 gene is located on the X chromosome, which means X-linked Alport syndrome is inherited in an X-linked recessive way. Because they only have one X chromosome (one copy of the COL4A5 gene), males with a mutation in their only copy will have more severe symptoms of X-linked Alport syndrome. Females have two X chromosomes (two copies of the COL4A5 gene), so a mutation in one of their two gene copies usually causes milder symptoms.

X-linked 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, a kidney transplant may be needed. Hearing aids can help with hearing loss. If your child has been diagnosed with X-linked 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 "X-linked 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 "X-linked 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 "X-linked Alport syndrome" returned 32 free, full-text research articles on human participants. First 3 results:

A Novel Mutation in a Japanese Family with X-linked Alport Syndrome.
 

Author(s): Yoshifusa Abe, Masayuki Iyoda, Kandai Nozu, Satoshi Hibino, Kei Hihara, Yutaka Yamaguchi, Tomohiko Yamamura, Shogo Minamikawa, Kazumoto Iijima, Takanori Shibata, Kazuo Itabashi

Journal: Intern. Med.. ;55(19):2843-2847.

 

We herein report a novel mutation in a Japanese family with an X-linked Alport syndrome (AS) mutation in COL4A5. Patient 1 was a 2-year-old Japanese girl. She and her mother (patient 2) had a history of proteinuria and hematuria without renal dysfunction, deafness, or ocular abnormalities. ...

Last Updated: 11 Oct 2016

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X-Linked and Autosomal Recessive Alport Syndrome: Pathogenic Variant Features and Further Genotype-Phenotype Correlations.
 

Author(s): Judith Savige, Helen Storey, Hae Il Cheong, Hee Gyung Kang, Eujin Park, Pascale Hilbert, Anton Persikov, Carmen Torres-Fernandez, Elisabet Ars, Roser Torra, Jens Michael Hertz, Mads Thomassen, Lev Shagam, Dongmao Wang, Yanyan Wang, Frances Flinter, Mato Nagel

Journal:

 

Alport syndrome results from mutations in the COL4A5 (X-linked) or COL4A3/COL4A4 (recessive) genes. This study examined 754 previously- unpublished variants in these genes from individuals referred for genetic testing in 12 accredited diagnostic laboratories worldwide, in addition ...

Last Updated: 15 Sep 2016

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

 
 
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Symptoms, Diagnosis, and Treatment

 
 
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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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