Síndrome de Alport
Última actualización 10 Mar 2025
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Alport syndrome is a genetic condition characterised by kidney disease, hearing loss, and eye abnormalities.
Descripción
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.
Patrones de herencia
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
Otros nombres
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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Lecturas adicionales y referencias
- Síndrome de Alport; MedlinePlus, National Library of Medicine.
- Gibson J, Fieldhouse R, Chan MMY, Sadeghi-Alavijeh O, Burnett L, Izzi V, Persikov AV, Gale DP, Storey H, Savige J; Genomics England Research Consortium. Prevalence Estimates of Predicted Pathogenic COL4A3-COL4A5 Variants in a Population Sequencing Database and Their Implications for Alport Syndrome. J Am Soc Nephrol. 2021 Sep;32(9):2273-2290. doi: 10.1681/ASN.2020071065. Epub 2021 Jun 18.
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