Alport syndrome

Injury	Disease	Nutrition	Poison

Symptoms	Surgery	Test	Special Topic

Male urinary system

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:

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A doctor's exam will likely only revealblood in the urine. Minute amounts of blood (microscopic hematuria) is present from birth in the urine of nearly all affected males.

The blood pressure may be elevated. Examination of the eyes may show changes in thefundus (posterior inner part of eye) or lens changes, cataracts, or lens protrusion (lenticonus). An ear exam willshow 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 changes typical of Alport syndrome.