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Alport’s syndrome


A genetic disease that causes kidney inflammation in childhood, followed by a sensorineural hearing loss in young adulthood, and eye problems later in life. It is more common among boys than girls. There is no clear relationship between the extent of kidney disease and the onset of deafness. Alport syndrome affects about one in 5,000 Americans, striking boys more often and more severely than girls. There are several varieties of the syndrome, some occurring in childhood and others not causing symptoms until men reach their 20s or 30s. All varieties of the syndrome are characterized by kidney disease that usually progresses to chronic kidney failure and by uremia (the presence of excessive amounts of urea and other waste products in the blood). Cause Most cases of Alport’s syndrome are caused by a defect in one or more genes located on the X chromosome. The syndrome is usually inherited from the mother, who is a normal carrier. However, in up to 20 percent of cases there is no family history of the disorder. In these cases, Alport’s appears to be caused by a spontaneous genetic mutation. Symptoms Blood in the urine (hematuria) is a hallmark of Alport syndrome. Other symptoms that may appear in varying combinations include protein in the urine, hearing loss, eye problems, skin problems, platelet disorders, abnormal white blood cells, or smooth muscle tumors. Not all patients with Alport syndrome have hearing problems. In general, those with normal hearing have less severe cases of Alport syndrome. Diagnosis The syndrome is diagnosed with a medical evaluation and family history, together with a kidney biopsy that can detect changes in the kidney. Urinalysis may reveal blood or protein in the urine. Blood tests can reveal a low platelet level. Tests for the Alport gene are also available and may be covered by health insurance. DNA tests can diagnose affected children even before birth, and genetic linkage tests tracing all family members at risk for Alport syndrome are also available. Treatment There is no specific treatment that can cure Alport syndrome. Instead, care is aimed at easing the problems related to kidney failure, such as the presence of too many waste products in the blood. To control kidney inflammation, patients should: • restrict fluids • control high blood pressure • manage pulmonary edema • control high blood levels of potassium Rarely, patients with Alport syndrome may develop nephrotic syndrome, a group of symptoms including too much protein in the urine, low albumin levels, and swelling. To ease these symptoms, patients should drink less, eat a salt-free diet, use diuretics, and have albumin transfusions. Treatment for Alport syndrome is supportive. Eventually, dialysis and kidney transplant may be necessary; the disease is not known to recur after transplantation. Glucocorticoids and cytotoxic agents are not effective.

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