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Genetic and Rare Diseases Information Center (GARD)

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Alport syndrome

Other Names for this Disease
  • Alport syndrome, X-linked
  • Congenital hereditary hematuria
  • Hemorrhagic familial nephritis
  • Hemorrhagic hereditary nephritis
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How might Alport syndrome be treated?

Although there is no one specific treatment for Alport syndrome, the goals of treatment include monitoring and controlling progression of the disease and treating the symptoms. Strict control of blood pressure is very important. Research suggests that ACE inhibitors can help reduce proteinuira and the progression of kidney disease.[1] However, treatment of chronic kidney failure often becomes necessary. This can include dietary modifications, fluid restriction, and other treatments. Ultimately, chronic kidney failure progresses to end-stage kidney disease, requiring dialysis or transplantation.[2] Kidney transplantation in patients with Alport syndrome is usually successful, but some studies have reported that about 10% of transplanted patients develop nephritis in the graft.[3]

Other aspects of the condition are addressed as needed. For instance, surgical repair of cataracts (cataract extraction), or repair of the anterior lenticonus in the eye may be needed. Loss of hearing is likely to be permanent. Counseling and education to increase coping skills can be helpful. Learning new skills such as lip reading or sign language may be of some benefit. Hearing aids are helpful. Young men with Alport syndrome should use hearing protection in noisy environments. Genetic counseling may be recommended because of the inherited pattern of the disorder.[2]

Additional information related to the treatment of Alport syndrome can be accessed through GeneReviews and eMedicine

Last updated: 1/30/2014

  1. Ramesh Saxena, MD, PhD. Alport Syndrome. Medscape Reference. August 12, 2013; Accessed 1/30/2014.
  2. Dugdale DC, Lin HY. Alport syndrome. MedlinePlus. 2009; Accessed 7/12/2011.
  3. Sessa A, Meroni M. Alport syndrome. Orphanet. 2007; Accessed 7/12/2011.

Management Guidelines

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions. Click on the link to view the article on this topic.

Clinical Trials & Research for this Disease

  • lists trials that are studying or have studied Alport syndrome. Click on the link to go to to read descriptions of these studies.