Alport syndrome

ABSTRACT: Alport syndrome, affecting about one in 5,000 persons, is hereditary glomerulonephritis that is caused by mutation of one or the other of several COL4A genes that specify  chains of basement membrane (Type IV) collagen, or by mutation of unknown genes. Especially in males, the resultant chronic nephritis progresses via uremic syndrome to end-stage renal disease treatable only by dialysis or by kidney transplantation. In various families, nephritis may be associated with various combinations of hearing loss, lenticonus and other eye disorders, immunologic abnormality of skin, disorders of platelets, abnormalities of white blood cells, or smooth muscle tumors.

KEYWORDS: Alport or Alport's syndrome, basement membranes, COL4A3, COL4A4, COL4A5 and COL4A6 genes, collagen, deafness, dialysis, end-stage renal disease (ESRD), Epstein syndrome, Fechtner inclusions, glomerulonephritis, glomerular basement membrane (GBM), granulocytes, hearing loss, hematuria, hereditary/genetic disorders, kidney disease, leiomyomatosis, lenticonus, nephritis, [the MESH heading Nephritis, Hereditary], nephrology, nephrosis, Online Mendelian Inheritance in Man (OMIM) Numbers, platelets, proteinuria, thrombocytopathia, transplantation, uremia, uremic syndrome, urinalysis.