Alport syndrome

Alternative names:

hematuria - nephropathy - deafness; hemorrhagic familial nephritis; hereditary deafness and nephropathy; hereditary nephritis

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.