Alport syndrome refers to a group of inherited disorders that affect the kidney, hearing, and vision and the symptoms can begin at any age. Many people with Alport syndrome become deaf, and over time, their kidneys may stop working. Alport syndrome may be inherited as a genetic defect of the X chromosome (called X-linked, it is the most common form), or it may be inherited in an autosomal recessive form (about 15 percent of individuals) or autosomal dominant form (about 5 percent of individuals).
It is estimated that about 1 in 50,000 people have Alport syndrome. It affects both males and females, but one type (X-linked Alport syndrome) is more severe in males.
SymptomsThe symptoms of Alport syndrome are:
- Blood in the urine (hematuria) – there may be a lot of blood that makes the urine turn pink or red, or there may be so little blood that only a urine test (urinalysis) will detect it. Hematuria is usually the first sign of Alport syndrome.
- hearing loss (more common in males)
- vision problems (more common in males)
- other signs of kidney problems, such as swelling (edema) in the ankles, feet, and legs. In children, the edema may be around the eyes (periorbital) or may be all over the body. There may also be protein in the urine (proteinuria), and blood tests may show increases in blood urea nitrogen (BUN) and creatinine.
DiagnosisA family history of Alport syndrome would suggest the diagnosis. However, some individuals may be the first person in a family to have symptoms. Several tests can help diagnose Alport syndrome. Hematuria can be detected by urinalysis. A hearing test (audiometry) can check for hearing loss. A sample of kidney tissue (renal biopsy) can be examined under a microscope for the changes present in Alport syndrome. Eye examination can check for vision changes. Other tests may be done to determine the extent of the kidney disease.
TreatmentThere is no specific treatment course for Alport syndrome, so treatment focuses on managing the kidney disease. People whose kidneys do not work well often have to reduce their salt, protein, and fluid intake. They may take medications such as erythropoietin, phosphate binders, and vitamin D. If the kidneys stop working, affected individuals will need dialysis or a kidney transplant.
"Alport Syndrome." A to Z Health Guide. 27 Apr 2004. National Kidney Foundation. 4 Jul 2007.
Magee, Colm C. "Alport Syndrome." MedlinePlus Medical Encyclopedia. 09 Dec 2005. National Institutes of Health. 4 Jul 2007. <http://www.nlm.nih.gov/medlineplus/ency/article/000504.htm>.
Devarajan, Prasad. "Alport Syndrome." eMedicine. 11 Jul 2006. WedMD. 3 Jul 2007.