Alport syndrome
Dernière mise à jour 10 mars 2025
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Alport syndrome is a genetic condition characterised by kidney disease, hearing loss, and eye abnormalities.
Description
Alport syndrome is a genetic condition characterised by kidney disease, hearing loss, and eye abnormalities.
People with Alport syndrome experience progressive loss of kidney function. Almost all affected individuals have blood in their urine (hematuria), which indicates abnormal functioning of the kidneys. Many people with Alport syndrome also develop high levels of protein in their urine (proteinuria). The kidneys gradually lose their ability to efficiently remove waste products from the body, resulting in end-stage kidney disease (ESKD).
In late childhood or early adolescence, many people with Alport syndrome develop sensorineural hearing loss, which is caused by abnormalities of the inner ear. Affected individuals may also have misshapen lenses in their eyes (anterior lenticonus) and abnormal coloration of the retina, which is the light-sensitive tissue at the back of the eye. These eye abnormalities seldom lead to vision loss.
Inheritance patterns
The source lists the following possible inheritance patterns: Autosomal recessive; Autosomal dominant; X-linked. More than one pattern can apply in different cases.
Related genes
Other names
Congenital hereditary hematuria
Hematuria-nephropathy-deafness syndrome
Hematuric hereditary nephritis
Hemorrhagic familial nephritis
Hemorrhagic hereditary nephritis
Hereditary familial congenital hemorrhagic nephritis
Hereditary hematuria syndrome
Hereditary interstitial pyelonephritis
Hereditary nephritis
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Lectures complémentaires et références
- Alport syndrome; MedlinePlus, National Library of Medicine.
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- Slajpah M, Gorinsek B, Berginc G, Vizjak A, Ferluga D, Hvala A, Meglic A, Jaksa I, Furlan P, Gregoric A, Kaplan-Pavlovcic S, Ravnik-Glavac M, Glavac D. Sixteen novel mutations identified in COL4A3, COL4A4, and COL4A5 genes in Slovenian families with Alport syndrome and benign familial hematuria. Kidney Int. 2007 Jun;71(12):1287-95. doi: 10.1038/sj.ki.5002221. Epub 2007 Mar 28.
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Historique de l'article
Article également disponible en Anglais, Allemand, Espagnol, Français, Italien, Portugais, Hindi, Hébreu, Arabe, and Suédois.
10 mars 2025 | Dernière version
1er sept 2023 | Publié à l'origine
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