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

Etymology: A.C. Alport, South African physician, 1880-1959
a form of hereditary nephritis (autosomal-dominant, autosomal-recessive, and x-linked) with symptoms of glomerulonephritis, hematuria, progressive sensorineural hearing loss, and occasionally, ocular disorders such as cataracts, drusen, and lenticonus. The trait is transmitted most often through females, who are often asymptomatic. In males, kidney impairment tends to develop in the third decade; death from renal complications occurs in middle age. Treatment is directed toward the relief of uremia or other kidney disorders. Kidney transplantation and dialysis are sometimes successful treatments.

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 ?
Identification of COL4A5 defects in Alport's syndrome by immunohistochemistry of skin.
On the basis of typical triad of positive family history, sensorineural deafness and medical renal disease diagnosis of Alport's syndrome made.
Debra, 37, was born with an inherited condition called Alport's Syndrome, which causes the kidneys to fail.
Fechtner syndrome--a variant of Alport's syndrome with leukocyte inclusions and macrothrombocytopenia.
Other diseases can demonstrate linear staining, including diabetic nephropathy, Alport's syndrome, lupus nephritis, and renal transplant biopsy specimens (Kluth & Rees, 1999).
Molecular genetics and immunohistochemical study of autosomal recessive Alport's syndrome.