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

View Details
Logo
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

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

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

View Details
Logo
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

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

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

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

Go To URL
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

Go To URL
COL4A5-associated X-linked Alport syndrome in a female patient with early inner ear deafness due to a mutation in MYH9.
 

Author(s): Katja Strasser, Julia Hoefele, Carsten Bergmann, Anja K Büscher, Rainer Büscher, Peter F Hoyer, Stefanie Weber

Journal: Nephrol. Dial. Transplant.. 2012 Nov;27(11):4236-40.

 

Alport syndrome (ATS) is a type-IV collagen inherited disorder, caused by mutations in COL4A3 and COL4A4 (autosomal recessive) or COL4A5 (X-linked). Clinical symptoms include progressive renal disease, eye abnormalities and high-tone sensorineural deafness. A renal histology very ...

Last Updated: 12 Nov 2012

Go To URL

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.

 
 
Top

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

Go to URL
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: 26 Feb 2015

Go to URL
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

Go to URL