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 ?
Jason and Ashley were tested for Alport's Syndrome at birth as it affected several members of Ann's family.
Alport's Syndrome is an unusual condition and for it to affect identical twins at the same time and for their parents to both be in a position to give one of their healthy kidneys is extraordinary.
Alport's syndrome, thin basement membrane nephropathy, nail-patella syndrome, and type III collagen glomerulopathy.
Autosomal recessive Alport's syndrome and benign familial hematuria are collagen type IV diseases.