alexa Alport Syndrome

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Alport Syndrome

Alport Syndrome is an inherited disease that primarily affects the glomeruli which was first described by an English doctor named A. Cecil Alport. The disease is caused by changes in genes (mutations) that affect type IV collagen, a protein that is important to the normal structure and function of glomeruli. The earliest symptom of the disease is blood in the urine (hematuria), then Protein in the urine (proteinuria), High blood pressure, swelling in the legs, ankle, feet and around the eyes. Three genetic types of Alport Syndrome are X-linked (related to the X chromosome) about 80% of the people with this disease have and rest of the people with Alport Syndrome have either the autosomal recessive type which affects 15 percent, or the autosomal dominant type, which affects 5 percent. If one parent has the disease and passes an abnormal gene to the child, it is called dominant inheritance i.e., only one copy of the abnormal gene is needed to cause the disease. If both parents carry the abnormal gene, and both parents pass an abnormal gene to the child, it is called recessive inheritance. Both copies of the abnormal gene are needed to cause the autosomal recessive version of the disease.

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