Sindrome di Alport
Ultimo aggiornamento 10 Mar 2025
Rispetta le linee guida editoriali
- ScaricaScarica
- Condividi
- Language
- Discussione
- Versione audio
- Aggiungi alle fonti preferite su Google
Alport syndrome is a genetic condition characterised by kidney disease, hearing loss, and eye abnormalities.
Descrizione
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.
Modelli di ereditarietà
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
Altri nomi
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
Related patient information and medicines
Patient information leaflet
Screening per la sindrome di Down
There are two different types of tests that can be done to look for Down's syndrome during pregnancy - a screening test and a diagnostic test. Down's syndrome is a genetic chromosome problem that some people are born with. This involves a blood test for levels of: Alpha-fetoprotein (AFP). Again, a computer program is used to give the chance of the.
Patient information leaflet
Sindrome alcolica fetale
FAS is a pattern of disabilities that can develop in a bambino as it grows in the womb (uterus) because the mother drank alcohol whilst pregnant and the baby is therefore exposed to alcohol before birth. Fetal alcohol syndrome (FAS) is part of a group of conditions called fetal alcohol spectrum disorders (FASDs). These are a range of disabilities a.
Patient information leaflet
Sindrome da anticorpi antifosfolipidi
Antiphospholipid syndrome is sometimes called Hughes' syndrome. It is a disease that affects the blood and makes it more likely to clot than normal - a thrombophilia. What is antiphospholipid syndrome. Antiphospholipid syndrome (APS) - also called Hughes' syndrome - makes blood more likely than normal to clot (a thrombophilia ). This increases the.
Patient information leaflet
Sindrome della vescica iperattiva
Sindrome della vescica iperattiva is very common. Symptoms of overactive bladder include an urgent feeling that you need to go to the toilet, needing to pass urine frequently and sometimes leaking urine before you can get to the toilet. Overactive bladder (OAB) syndrome means that the bladder, which is a bag made di muscle, squeezes (contracts) suddenly.
Patient information leaflet
Sindrome nefrosica
Sindrome nefrosica is a condition where the 'filters' in the kidney become 'leaky' and large amounts of protein leak from the blood into the urine. The main symptom is fluid retention (oedema) which is mainly due to the low protein level in the blood. Various diseases can cause nephrotic syndrome, some more serious than others. The most common.
Patient information leaflet
Sindrome da tachicardia posturale
Sindrome da tachicardia posturale (PoTS) è an abnormal response of your body when you are upright (usually when standing). Your heart rate increases too much after getting up from lying or sitting down. It is caused by a problem with the nervous system which controls the autonomic functions in the body. This part of the nervous system is called the.
Ulteriori letture e riferimenti
- Sindrome di 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.
- Gross O, Licht C, Anders HJ, Hoppe B, Beck B, Tonshoff B, Hocker B, Wygoda S, Ehrich JH, Pape L, Konrad M, Rascher W, Dotsch J, Muller-Wiefel DE, Hoyer P; Study Group Members of the Gesellschaft fur Padiatrische Nephrologie; Knebelmann B, Pirson Y, Grunfeld JP, Niaudet P, Cochat P, Heidet L, Lebbah S, Torra R, Friede T, Lange K, Muller GA, Weber M. Early angiotensin-converting enzyme inhibition in Alport syndrome delays renal failure and improves life expectancy. Kidney Int. 2012 Mar;81(5):494-501. doi: 10.1038/ki.2011.407. Epub 2011 Dec 14.
- Jais JP, Knebelmann B, Giatras I, De Marchi M, Rizzoni G, Renieri A, Weber M, Gross O, Netzer KO, Flinter F, Pirson Y, Dahan K, Wieslander J, Persson U, Tryggvason K, Martin P, Hertz JM, Schroder C, Sanak M, Carvalho MF, Saus J, Antignac C, Smeets H, Gubler MC. X-linked Alport syndrome: natural history and genotype-phenotype correlations in girls and women belonging to 195 families: a "European Community Alport Syndrome Concerted Action" study. J Am Soc Nephrol. 2003 Oct;14(10):2603-10. doi: 10.1097/01.asn.0000090034.71205.74.
- Jais JP, Knebelmann B, Giatras I, Marchi M, Rizzoni G, Renieri A, Weber M, Gross O, Netzer KO, Flinter F, Pirson Y, Verellen C, Wieslander J, Persson U, Tryggvason K, Martin P, Hertz JM, Schroder C, Sanak M, Krejcova S, Carvalho MF, Saus J, Antignac C, Smeets H, Gubler MC. X-linked Alport syndrome: natural history in 195 families and genotype- phenotype correlations in males. J Am Soc Nephrol. 2000 Apr;11(4):649-657. doi: 10.1681/ASN.V114649.
- Kashtan CE, Gross O. Clinical practice recommendations for the diagnosis and management of Alport syndrome in children, adolescents, and young adults-an update for 2020. Pediatr Nephrol. 2021 Mar;36(3):711-719. doi: 10.1007/s00467-020-04819-6. Epub 2020 Nov 6.
- Kashtan CE. Familial hematuria due to type IV collagen mutations: Alport syndrome and thin basement membrane nephropathy. Curr Opin Pediatr. 2004 Apr;16(2):177-81. doi: 10.1097/00008480-200404000-00011.
- Kashtan CE. Familial hematurias: what we know and what we don't. Pediatr Nephrol. 2005 Aug;20(8):1027-35. doi: 10.1007/s00467-005-1859-z. Epub 2005 Apr 27.
- Kruegel J, Rubel D, Gross O. Alport syndrome--insights from basic and clinical research. Nat Rev Nephrol. 2013 Mar;9(3):170-8. doi: 10.1038/nrneph.2012.259. Epub 2012 Nov 20.
- Moriniere V, Dahan K, Hilbert P, Lison M, Lebbah S, Topa A, Bole-Feysot C, Pruvost S, Nitschke P, Plaisier E, Knebelmann B, Macher MA, Noel LH, Gubler MC, Antignac C, Heidet L. Improving mutation screening in familial hematuric nephropathies through next generation sequencing. J Am Soc Nephrol. 2014 Dec;25(12):2740-51. doi: 10.1681/ASN.2013080912. Epub 2014 May 22.
- Pescucci C, Longo I, Bruttini M, Mari F, Renieri A. Type-IV collagen related diseases. J Nephrol. 2003 Mar-Apr;16(2):314-6.
- Quinlan C, Rheault MN. Genetic Basis of Type IV Collagen Disorders of the Kidney. Clin J Am Soc Nephrol. 2021 Jul;16(7):1101-1109. doi: 10.2215/CJN.19171220. Epub 2021 Apr 13.
- 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.
- Thorner PS. Alport syndrome and thin basement membrane nephropathy. Nephron Clin Pract. 2007;106(2):c82-8. doi: 10.1159/000101802. Epub 2007 Jun 6.
Partecipa alla conversazione
Condividi i tuoi pensieri o esperienze con gli altri nel nostro comunità di pazienti.
Chiedi, condividi, connettiti.
Esplora le discussioni, fai domande e condividi esperienze su centinaia di argomenti di salute.
Iscriviti alla newsletter di Patient
La tua dose settimanale di consigli sulla salute chiari e affidabili - scritti per aiutarti a sentirti informato, sicuro e in controllo.
Abbonandoti accetti i nostri Informativa sulla Privacy. Puoi annullare l'iscrizione in qualsiasi momento. Non vendiamo mai i tuoi dati.