[Alport syndrome in the light of current molecular genetics].
Alport syndrome is a hereditary nephropathy, inconstantly associated with sensorineural deafness and ocular abnormalities. These manifestations result from a structural defect in type IV collagen. Recent genetic advances have provided a molecular basis for the two main subsets of the disease, namely the X-linked and the autosomal recessive forms. It has just been shown that the autosomal dominant entity known as benign familial haematuria is actually due to a heterozygote mutation of the gene accounting for the autosomal recessive form of Alport syndrome. The genetic breakthrough has already clinical and pathophysiological implications.
Pirson
Y
Y
Service de Néphrologie, Cliniques universitaires St. Luc, Université catholique de Louvain, Bruxelles.
D001485:Basement Membrane / Q000502:physiology; D002648:Child; D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D003094:Collagen / Q000235:genetics; D005260:Female; D005799:Genes, Dominant; D005808:Genes, Recessive; D006801:Humans; D008297:Male; D009394:Nephritis, Hereditary / Q000235:genetics* / Q000503:physiopathology; D017354:Point Mutation; D012737:Sex Factors
D003094:Collagen
Le syndrome d'Alport à l'heure de la génétique moléculaire.