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Alport s syndrome Flinter FJ Med Genet 1997[Apr]; 34 (4): 326-30Alport's syndrome (AS) is a progressive glomerulonephritis which is associated with high tone sensorineural deafness and characteristic eye signs. It accounts for 0.6% of all patients who start renal replacement therapy in Europe, and is most commonly inherited as an X linked disorder with a gene frequency of 1 in 5000. During the last six years several type IV collagen genes have been implicated in the aetiology of AS, and mutation detection studies are enabling genotype/phenotype correlations to be made, as well as facilitating carrier detection and prenatal diagnosis.|Collagen/genetics[MESH]|Female[MESH]|Genetic Therapy[MESH]|Genotype[MESH]|Humans[MESH]|Kidney/pathology[MESH]|Male[MESH]|Nephritis, Hereditary/*genetics/pathology/therapy[MESH]|Phenotype[MESH]|X Chromosome[MESH] |
