Alport syndrome

Disease	Injury	Nutrition	Poison

Special Topic	Surgery	Symptoms	Test

Male urinary system

Overview

Symptoms

Treatment

Prevention

Alport syndrome

Alternative Names:

Hereditary nephritis; Hematuria - nephropathy - deafness; Hemorrhagic familial nephritis; Hereditary deafness and nephropathy

Symptoms:

Abnormal urine color
Blood in the urine
Loss of hearing, more common in males
Decrease or loss of vision, more common in males
Cough
Ankle, feet, and leg swelling
Swelling, overall
Swelling around the eyes

Note: There may be no symptoms in some cases. Symptoms of chronic renal failure or heart failure may be present or may develop.

Signs and tests:

Examination is nonspecific, except for blood in the urine. Minute amounts of blood (microscopic hematuria) is present from birth in nearly all affected males. The blood pressure may be elevated. Examination of the eyes may show fundus (posterior inner part of eye) or lens changes, cataracts, or lens protrusion (lenticonus). Examination of the ears shows no structural changes.

Urinalysis shows blood, protein, and other abnormalities.
BUN, creatinine are elevated.
Red blood cell count, hematocrit may decrease.
Hematuria test is positive.
Audiometry may show nerve deafness.
Renal biopsy shows chronic glomerulonephritis with the classical changes of Alport syndrome.

Review Date: 1/19/2002
Reviewed By: Andrew T. Koren, M.D., Department of Nephrology, NYU-Mount Sinai Medical Center, New York, NY. Review provided by VeriMed Healthcare Network.

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