Boletín médico del Hospital Infantil de México
versión impresa ISSN 1665-1146
MEDEIROS-DOMINGO, Mara et al. Alport syndrome. Bol. Med. Hosp. Infant. Mex. [online]. 2008, vol.65, n.5, pp. 331-340. ISSN 1665-1146.
Alport syndrome (AS) is a hereditary disease of basal membranes due to a mutation in type IV collagen. It is characterized by hereditary progressive nephropathy often associated with sensorineural hearing loss, ocular defects and less commonly leiomyomatosis. It accounts for 1-2% of end stage renal disease patients in Europe and approximately 3% of end stage renal disease children in America. There are 3 genetic forms of AS: 1. X-linked, due to mutation in COL4A5 gene, present in 80-85% of patients. 2. Autosomal recessive, due to mutations in both alleles of COL4A3 or COL4A4 located in the 2q35-37 chromosome, present in 15% of families with Alport syndrome. 3. Autosomal dominant, due to a heterozygous mutation in COL4A3 or COL4A6 genes, it is present in 5% of the patients. The disease genetics, biochemistry, clinical presentation, histopathology, diagnosis, prognosis and therapeutic options are reviewed.
Palabras llave : Hematuria, familiar; collagen; collagen type IV; basement membrane; kidney failure, chronic; kidney, disease; nephritis, hereditary; Alport's syndrome.