Alport’s syndrome

Alport’s syndrome [A.C. Alport, South African physician, 1880–1959] , a form of hereditary nephritis (autosomal-dominant, autosomal-recessive, and x-linked). 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. Should not be confused with Apert’s syndrome. ▪ OBSERVATIONS: The syndrome is associated with symptoms of glomerulonephritis, hematuria, progressive sensorineural hearing loss, and occasionally, vision problems. ▪ INTERVENTIONS: Treatment is directed toward the relief of uremia or other kidney disorders. The use of ACE inhibitors may delay renal failure. Kidney transplantation and dialysis are sometimes successful treatments. ▪ PATIENT CARE CONSIDERATIONS: The potential loss of renal function, hearing, and sight requires anticipatory guidance from the health care team. Testing for proteinuria should be initiated early. Genetic counseling should be offered to the family of individuals with Alport’s syndrome. The Alport Syndrome Foundation sponsors meetings and conferences to educate those affected by Alport syndrome.