Alport Syndrome

The Heritable Disorder

Signs & Symptoms

Symptoms of Alport Syndrome are abnormal urine color, ankle, feet, & leg swelling, blood in urine, swelling around the eyes, swelling all over. The person can suffer from decreased or loss of vision, flank pain, and loss of hearing.

Pathogenesis

An inherited form of kidney inflammation caused by a mutation in a gene for a protein in the connective tissue. The disorder is uncommon and most often affects males. Women can pass the gene for the disorder to their children.

Diagnosis

A medical professional would do a medical history check and physical examination, hearing & vision evaluation and testing, renal ultrasound, kidney biopsy analysis, skin biopsy analysis, and genetic testing.

Management

Important to control blood pressure. May treat chronic kidney disease by changing diet. limiting fluids, and other treatments, end resulting in dialysis or a kidney transplant. Surgery to repair the cataracts or a bulging of the lens in the eye may be needed. Genetic counseling can be recommended since the disorder is inherited.

Prognosis

Women usually live normal with no signs of the disease except for blood in the urine, and rarely they will have high blood pressure, swelling, and nerve deafness as a complication of pregnancy

Men will have deafness, vision problems, and end-stage kidney disease.

Epidemiology

It accounts for approximately 3% of children and 0.2% of adults with ESRD in the us and 0.6% of patients with ESRD in Europe.