Treatments for X-linked Genetic Diseases
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Book Excerpts: Treatment of X-linked Genetic Diseases
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X-linked infantile hypogammaglobulinemia:
Treatment
(Professional Guide to Diseases (Eighth Edition))
Treatment aims to prevent or control infections and to boost the patient’s immune response. Injection of immune serum globulin (gamma globulin, IV Ig) helps maintain immune response. Because these injections are painful, give them deep into a large muscle mass, such as the gluteal or thigh muscles, and massage well. If the dosage is more than 1.5 ml, divide it and inject it into more than one site; for frequent injections, rotate the injection sites. Because immune globulin is composed primarily of IgG, the patient may also need fresh frozen plasma infusions to provide IgA and IgM. Mucosal secretory IgA can’t be replaced by therapy, resulting in crippling pulmonary disease in many patients.
Judicious use of antibiotics also helps combat infection; in some cases, chronic broad-spectrum antibiotics may be indicated. During acute infection, monitor the patient closely. Maintain adequate nutrition and hydration. Perform chest physiotherapy if required.
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Source: Professional Guide to Diseases (Eighth Edition), 2005
Fragile X syndrome:
Treatment
(Professional Guide to Diseases (Eighth Edition))
Fragile X syndrome has no known cure. Treatment is aimed at controlling individual symptoms. Surgery may be needed to repair a defective mitral valve.
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Source: Professional Guide to Diseases (Eighth Edition), 2005
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