Hunters Syndrome Essay

1338 WordsMar 3, 20156 Pages
Hunters Syndrome Michele Frizzell HCS/245 June 16, 2014 Erich Widemark Hunter Syndrome Most infants at one point or another get an ear infection, runny nose or a cold. As a parent, what would you do if your child had symptoms such as these? What diagnosis would a pediatrician give? The commonality of these symptoms in infants is high; therefore, Hunter Syndrome, or Mucopolysaccharidosis (MPS II) would be the least likely diagnosis. The purpose of this paper is to educate individuals about Hunter Syndrome (MPS II). What is this disease? What population is vulnerable and is the environment a factor? Is there a mode of transmission? How does society perceive individuals with MPS II, and what are some health promotion strategies for prevention of Hunter Syndrome. Hunter Syndrome is a rare genetic disorder that occurs when an enzyme the body needs is either missing or does not work properly. Development occurs when a defective chromosome is inherited from the child’s mother ("Mayo Clinic", 2012). MPS II interferes with the body’s ability to break down and recycle specific mucopolysaccharides, also called glycosaminoglycans (GAGs). Hunter Syndrome is one of many related lysosomal storage diseases (National MPS Society, 2014). The body has a deficiency of the enzyme iduronate-2-sulfatase (I2S) which allows GAGs to build-up in the cells and interferes with the function of certain organs and other cells throughout the body (National MPS Society, 2014). The continuing of build-up in the cells throughout the body causes more visible signs and symptoms of Hunter Syndrome. The urine test is the most common way to screen for an MPS disorder. A complete diagnosis is made by measuring the I2S activity in white blood cells or fibroblasts from a skin biopsy ("News Medical", 2011). Many times another health issue will lead to the identification of Hunters Syndrome. An

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