Therapy of the Presymptomatic, the Pediatric, and the Pregnant Patient
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For our purposes, we define the presymptomatic patient as one who has been discovered in some manner other than as the result of a clinical presentation, such as from working up the siblings of an affected patient, or an incidental observation of some abnormality (Chapter 2, pp. 24–25). That incidentally observed abnormality might be the presence of Kayser-Fleischer rings discovered by an ophthalmologist, or elevation of transaminase enzymes, or the detection of cirrhosis during surgery or by some type of scan. It should be made clear that the patients under discussion are not completely normal. Invariably, they will have some underlying liver disease as a result of copper toxicity. However, the main point is that the patient has not yet presented clinically.
KeywordsMaintenance Therapy Pregnant Patient Copper Deficiency Menkes Disease Urine Copper
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