Alport syndrome

• An inherited disorder that damages tiny blood vessels in the kidneys.
• Caused by a mutation in a gene for a protein in connective tissue, called collagen.

• Incidence:
• Uncommon, most often affects males. Women can transmit the gene for the disorder to their children, even if they have no symptoms.
• Risk factors include:
• End-stage kidney disease in male relatives
• Family history of Alport syndrome
• Glomerulonephritis
• Hearing loss before age 30
• Nephritis
• Symptoms
• Damages the tiny blood vessels in the kidneys, called glomeruli, that filter wastes.
• At first, there are no symptoms. 
• However, progressive destruction of the glomeruli leads to blood in the urine and may decrease the effectiveness of the kidney's filtering system. 
• There is a progressive loss of kidney function and a buildup of fluids and waste products in the body.
• In women, the disorder is usually mild, with minimal or no symptoms. 
• In men, the symptoms are more severe and get worse faster.
• Symptoms include:
• Abnormal urine color
• Ankle, feet, and leg swelling
• Blood in the urine
• Decreased or loss of vision, more common in males
• Loss of hearing, more common in males
• Swelling around the eyes
• Swelling, overall
• The condition can progress to end-stage renal disease (ESRD) at an early age (between adolescence and age 40).
• Note: There may be no symptoms in some cases. Symptoms of chronic kidney failure or heart failure may be present or may develop.
• Signs and tests
• Changes to the eye, including the fundus (posterior inner part of eye), lens, cataracts, or lens protrusion (lenticonus)
• Elevated blood pressure
• Tiny amounts of blood in the urine (microscopic hematuria)
• The following tests may be done:
• Urinalysis shows blood, protein, and other abnormalities.
• BUN and creatinine are elevated.
• Red blood cell count, hematocrit may decrease.
• Audiometry may show nerve deafness.
• Renal biopsy shows chronic glomerulonephritis with changes typical of Alport syndrome.
• Treatment
• The goals of treatment include monitoring and controlling progression of the disease and treating the symptoms. 
• Most important is to strictly control blood pressure.
• Treatment of chronic kidney failure may become necessary. This can include dietary modifications, fluid restriction, and other treatments.
• Ultimately, chronic kidney failure progresses to end-stage kidney disease, requiring dialysis or transplantation.
• Surgical repair of cataracts (cataract extraction), or repair of the anterior lenticonus in the eye may be needed.
• Loss of hearing is likely to be permanent. 
• Counseling and education to increase coping skills can be helpful.
•  Learning new skills such as lip reading or sign language may be of some benefit. 
• Hearing aids are helpful. 
• Young men with Alport syndrome should use hearing protection in noisy environments.
• Genetic counseling may be recommended because of the inherited pattern of the disorder.
• Expectations (prognosis)
• Women usually have a normal life span with no signs of the disease except for blood in the urine. 
• Rarely, women will have high blood pressure, swelling, and nerve deafness as a complication of pregnancy.
• In men, deafness, visual difficulties, and kidney failure are likely by age 50.
• Complications
• Chronic renal failure
• Decrease or loss of vision
• End-stage renal disease
• Permanent deafness

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