title: Type-IV collagen related diseases.
abstract: Alport syndrome (ATS) is a progressive inherited glomerulonephritis accounting for 1-2% of all patients who start renal replacement therapy, with an estimated gene frequency of approximately 1 in 5000. ATS is a genetically heterogeneous disease, commonly inherited as an X-linked semi-dominant trait, caused by mutations in COL4A5, on the X-chromosome, and only rarely (less than 10% of cases) caused by the COL4A3 or the COL4A4 gene on chromosome 2q. In the X-linked form females are generally less affected than males, microhematuria being the only sign present throughout life, although approximately 30% can progress to end-stage renal disease. It became evident in recent years that mutations in the COL4A3 or the COL4A4 gene can give rise not only to autosomal recessive ATS syndrome, in which males and females are severely affected, but also to an autosomal dominant form, where the clinical progression towards impaired renal function can be very slow and also to benign familial hematuria (BFH) in which renal function is preserved.
authors.affiliation: Medical Genetics, Department of Molecular Biology, Policlinico Le Scotte, University of Siena, Viale Bracci 2, 53100 Siena, Italy.
authors.forename: Chiara
authors.initials: C
authors.lastname: Pescucci
authors.forename: Ilaria
authors.initials: I
authors.lastname: Longo
authors.forename: Mirella
authors.initials: M
authors.lastname: Bruttini
authors.forename: Francesca
authors.initials: F
authors.lastname: Mari
authors.forename: Alessandra
authors.initials: A
authors.lastname: Renieri
mesh_terms: D024141:Collagen Type IV / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D005799:Genes, Dominant; D020022:Genetic Predisposition to Disease; D006801:Humans; D015994:Incidence; D008297:Male; D009154:Mutation; D009394:Nephritis, Hereditary / Q000453:epidemiology* / Q000235:genetics* / Q000628:therapy; D011379:Prognosis; D006435:Renal Dialysis; D012307:Risk Factors; D012720:Severity of Illness Index; D017678:Sex Distribution
chemical_list: D024141:Collagen Type IV