Question

Genetic Disorders

How is osteosclerosis treated?

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  • General: There is no cure for osteosclerosis and ectodermal dysplasia. Instead, treatment is focused on the reduction of symptoms and prevention of complications. Vitamin and mineral supplementation: Individuals with osteosclerosis and ectodermal dysplasia may suffer from malabsorption, the inability to absorb nutrients in the digestive tract. Depending on the individual needs of a patient with malabsorption, vitamin and mineral supplements may be recommended. These may include single-nutrient supplements, such as vitamin C, or combination supplements, such as a multivitamin with minerals Dental care: Patients with osteosclerosis and ectodermal dysplasia must practice good oral hygiene, including flossing, brushing, and regular visits to the dentist. Drugs: Antibiotics may be used to treat bacterial infections. Surgery: Atrial septal defect, a heart condition seen in osteosclerosis and ectodermal dysplasia, is essentially a hole in the muscle wall that separates the two atria of the heart. If the hole is large, oxygen-rich blood may leak from the left atrium back into the right, causing the heart to work inefficiently. If an atrial septal defect is detected and assessed, it may be corrected by surgery. Surgical closure of an atrial septal defect involves opening up at least one atrium and closing the defect with a patch. Transfusion: In some cases, low levels of neutrophils may be treated by transfusion of neutrophils from a donor. This procedure is used only in life-threatening situations and when other approaches have failed. Risks associated with transfusion include a reaction to the transfused blood products. This reaction may result in chills, headache, backache, chest pain, tachycardia, and hypotension. Rarely, blood products can sometimes be contaminated with bacteria, and there is a chance that a virus may be transmitted to the recipient. Screening of blood products has made viral transmission rare in blood transfusion.

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How is osteosclerosis diagnosed?