Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.

Diseases

Genetic and Rare Diseases Information Center (GARD)

Print friendly version

Alport syndrome


Other Names for this Disease

  • Alport syndrome, X-linked
  • Congenital hereditary hematuria
  • Hemorrhagic familial nephritis
  • Hemorrhagic hereditary nephritis
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

Alport syndrome is a genetic condition characterized by kidney disease, hearing loss, and eye abnormalities. Most affected individuals experience progressive loss of kidney function, usually resulting in end-stage kidney disease. People with Alport syndrome also frequently develop sensorineural hearing loss in late childhood or early adolescence. The eye abnormalities seen in this condition seldom lead to vision loss. In 80% of cases, Alport syndrome is inherited in an X-linked manner and is caused by mutations in the COL4A5 gene. In the remaining cases, it may be inherited in either an autosomal recessive or autosomal dominant manner and caused by mutations in the COL4A3 or COL4A4 genes.[1] Treatment may include use of a hearing aid; hemodialysis and peritoneal dialysis to treat those with end-stage renal failure; and kidney transplantation.[2]
Last updated: 8/1/2013

References

  1. Alport syndrome. Genetics Home Reference. April 2009; http://ghr.nlm.nih.gov/condition/alport-syndrome. Accessed 10/24/2011.
  2. Mietta Meroni and Adalberto Sessa. Alport syndrome. Orphanet. July 2007; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=63. Accessed 8/1/2013.
Your Questions Answered
by the Genetic and Rare Diseases Information Center

4 question(s) from the public on Alport syndrome have been answered. See questions and answers. You can also submit a new question.

Basic Information

  • Genetics Home Reference (GHR) contains information on Alport syndrome. This website is maintained by the National Library of Medicine.
  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

In Depth Information

  • Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
    Orphanet
    Orphanet
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Alport syndrome. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Alport syndrome, X-linked
  • Congenital hereditary hematuria
  • Hemorrhagic familial nephritis
  • Hemorrhagic hereditary nephritis
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.