Avtor/Urednik		Haložan, Katja; Marčun-Varda, Nataša; Gregorič, Alojz
Naslov		Alportov sindrom
Prevedeni naslov		Alport syndrome
Tip		članek
Vir		Med Mes
Vol. in št.		Letnik 3, št. 2
Leto izdaje		2007
Obseg		str. 60-4
Jezik		slo
Abstrakt		Alport syndrome is a type IV collagen hereditary disease characterized by progressive hematuric nephritis with ultrastructural and immunohistochemical changes of the glomerular basement membrane variably associated with sensorineural hearing loss and ocular abnormalities. The prevalence of the disease is estimated at approximately 1 in 50,000 live births. Mutations in the COL4A5 collagen gene are responsible for the more common X-linked dominant form of the disease characterised by much less severe disease in girls and woman. In 15 % of patients, the disease results from mutations in either the COL4A3 or the COL4A4 gene, both located on chromosome 2. In the article the diagnostic procedure and treatment of Alport syndrome are briefly described.
Izvleček		Alportov sindrom je dedna bolezen kolagena tipa IV, za katero je značilen napredujoč hematurični nefritis z ultrastrukturnimi in imunohistokemičnimi spremembami glomerulne bazalne membrane. Pogosto sta pridruženi senzorinevralna izguba sluha in očesne spremembe. Prevalenca bolezni je ocenjena na 1 od 50.000 rojstev. Najpogostejša je na kromosom X vezana dominantna oblika bolezni z mutacijo kolagenskega gena COL4A5, za katero je značilen lažji potek bolezni pri deklicah in ženskah. Pri 15 % bolnikov je bolezen posladica mutacije na genih COL4A3 ali COL4A4, ki se nahajata na kromosomu 2. V članku je omenjena tudi diagnostika in zdravljenje Alportovega sindroma.
Deskriptorji		NEPHRITIS, HEREDITARY EYE MANIFESTATIONS