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Hereditary Nephritis

(Alport Syndrome)

By Navin Jaipaul, MD, MHS, Associate Professor of Medicine;Chief, Nephrology, Loma Linda University School of Medicine;VA Loma Linda Healthcare System

Hereditary nephritis is a genetic disorder that results in glomerulonephritis in which kidney function is poor, blood is present in the urine, and deafness and eye abnormalities sometimes occur.

Hereditary nephritis is usually caused by a defective gene on the X chromosome (female sex chromosome), but it sometimes results from an abnormal gene on a nonsex (autosomal) chromosome. Other factors influence how severe the disorder is in a person who has the defective gene. Hereditary nephritis can cause chronic kidney disease, sometimes with loss of most kidney function (kidney failure).

Symptoms

Females with the defective gene on one of their two X chromosomes usually do not have symptoms, although their kidneys may function somewhat less efficiently than normal. Most of these females have some blood in the urine. Occasionally, a female loses most kidney function (kidney failure).

Males with the defective gene on their one X chromosome develop more severe problems because males do not have a second X chromosome to compensate for the defect. Males usually develop kidney failure between the ages of 20 and 30, but in some males, the defective gene does not cause kidney failure until after age 30.

Hereditary nephritis can affect other organs. Hearing problems, usually an inability to hear sounds in the higher frequencies, are common. Cataracts can also occur, although less often than hearing loss. Abnormalities of the corneas, lenses, or retina sometimes cause blindness.

Other problems include a low number of platelets in the blood (thrombocytopenia) and abnormalities that affect several nerves (polyneuropathy).

Diagnosis

  • Urinalysis

  • Kidney biopsy

Urine is tested. Diagnosis is suggested in people who have blood in the urine, particularly if an abnormality of hearing or vision or a family history of chronic kidney disease is present.

Biopsy of the kidney is done. sometimes a biopsy of the skin is also needed in people who have family members with hereditary nephritis.

Although not yet widely available, techniques for evaluating gene mutations may become the diagnostic techniques of choice.

Genetic testing is usually offered to people who want to have children.

Treatment

  • Dialysis

There is no specific therapy. People who develop kidney failure need to undergo dialysis or receive a kidney transplant.