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Thursday, March 1, 2018

Alport syndrome

Alport syndrome is a new disorder to me The syndrome can be classified as a rare disease as 1 in 50,000 newborns are found to have the syndrome Alport syndrome is a genetic disorder characterized by premature fusion of certain skull bones. The fusion prevents the skull from growing normally and affects the shape of the head and face. Fingers and toes may be fused together as well 

Alport syndrome is characterized by kidney disease, hearing loss, and eye abnormalities. Progressive loss of kidney function. Individuals with the syndrome often have blood in their urine. The blood is an indication that the kidneys are not functioning normally. High levels of protein in their urine leading to the kidneys functioning less as the condition progresses. The syndrome often leads to end stage renal disease. 

Sensorineural hearing loss caused by abnormalties of the inner ear is another effects linked to Alport syndrome. Late childhood or early adolescence suffering from the syndrome may also have abnormalities with their eyes leading to vision loss. Hearing loss, eye abnormalities and progressive kidney disease are often symptoms expressed more from males suffering from Alport syndrome. 

There are no specific treatments for AS. Minimizing loss of protein in the urine to help stabilize kidney function is the current focus. Research to find treatment continues.

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