Alport's syndrome


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Related to Alport's syndrome: lenticonus, Apert syndrome

Alport's syndrome

 [al´ports]
an autosomal dominant disorder marked by progressive nerve deafness, progressive pyelonephritis or glomerulonephritis, and occasionally ocular defects.

Alport's syndrome

A rare inherited form of the kidney disease GLOMERULONEPHRITIS often associated with perceptive deafness and sometimes CATARACT. The syndrome is caused by defects in the Type IV collagen of basement membranes due to gene mutations. It usually begins in childhood or early adult life with blood in the urine. There may also be short sight (MYOPIA), RETINITIS PIGMENTOSA and THROMBOCYTOPENIA. (Arthur Cecil Alport, South African physician, 1880–1959).
References in periodicals archive ?
A comparison of the clinical, histopathologic, and ultrastructural phenotypes in carriers of X-linked and autosomal recessive Alport's syndrome. Am J Kidney Dis.
Characteristic ultrastructural lesion of the glomerular basement membrane in progressive hereditary nephritis (Alport's syndrome).
Ultrastructural and immunohistochemical findings in Alport's syndrome: a study of 108 patients from 97 Italian families with particular emphasis on COL4A5 gene mutation correlations.
Identification of COL4A5 defects in Alport's syndrome by immunohistochemistry of skin.
Animal studies are underway to evaluate the delivery of human alpha-5 (IV) chain of GBM in a canine model of X-linked Alport's syndrome. (8)
CONCLUSION: It is important to recognize Alport's syndrome early in the course of the disease.
Alport's syndrome, Goodpasture's syndrome and type IV collagen.
Ocular manifestations of Alport's syndrome: a hereditary disorder of basement membranes?