Hypophosphatasia
First recognized by Rathbun in1948, hypophosphatasia is an inherited metabolic bone disease similar to rickets. It results from low levels of an enzyme known as alkaline phosphatase (ALP). Alkaline phosphatase is normally present in large amounts in bones and in the liver. But when you have hypophosphatasia, abnormalities in the gene that makes ALP lead to production of inactive ALP. Hypophosphatasia occurs in all races, males and females are affected equally, and it affects all age groups. Hypophosphatasia is subdivided into five categories, starting at the lethal form perinatal, next is infantile, then childhood, adult, and finally the least severe form odontohypophosphatasia. These categories of hypophosphatasia depend on the severity of the disease. The severity of Hypophosphatasia is remarkably variable from patient to patient. The people most severely affected are the ones that fail to form a skeleton in the womb and are stillborn. The most mildly affected patients may show only low levels of ALP in the blood, but n
There is currently no medical therapy available. Carious treatments have been attempted using zinc, magnesium, cortisone, plasma, and enzyme replacement therapy. All the results have been inconsistent. To decrease the morbidity associated with hypophosphatasia supportive care is necessary. Check for evidence of increased intracranial pressure in infants and children and follow fractures closely. Expert dental care and physical therapy are recommended for all individuals with hypophosphatasia The most common premature loss of dentition is common with the incisor teeth often being the first affected. Depending on the severity of the skeletal disease, there may be deformity of the limbs and chest. Pneumonia can result if chest distortion is severe. Recurrent fractures Initially, patients with the infantile form of hypophosphatasia may appear normal until the onset of symptoms, which occurs when they are younger than 6 months. The infants have a history of poor feeding and failure to thrive. The patients with the childhood form
Some common words found in the essay are:
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Approximate Word count = 705
Approximate Pages = 3 (250 words per page double spaced)
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