Ceruloplasmin Case Study

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Serum Ceruloplasmin: Measurement of serum ceruloplasmin is safe and simple screening test for WD. A serum value of <20 mg/dl is considered as significant [10]. Falsely low value may also be seen in other conditions (Menkes’ disease, aceruloplasminemia, nephritic syndrome, protein- losing enteropathy) and in chronic liver disease of any cause. In contrast, ceruloplasmin may become falsely elevated into the normal range in Wilson’s disease patients by infection or inflammation (since it is an acute phase reactant). An extremely low serum ceruloplasmin level (<5 mg/dL) strongly supports a diagnosis of WD. Slit-Lamp Examination: In an individual with neurological or psychiatric dysfunction, the presence of KF ring strongly supports a diagnosis…show more content…
Limitation of dietary copper intake alone is generally ineffective, and pharmacological management is necessary in all patients. The mainstay of therapy is reducing the stored copper load and preventing Cu from reaccumulation. Lifelong commitment to treatment is required. Copper Chelation therapy: Penicillamine: Penicillamine, a by-product of penicillin that avidly chelates copper, is the standard of therapy in WD. Following initiation of treatment, copper is rapidly mobilized from tissues and is eliminated in the urine. Improvement in virtually all facets of liver functions and clinical symptoms occur within 2 weeks of treatment initiation, although psychiatric symptoms improve less consistently than neurological symptoms [9]. Penicillamine is started with one fourth to half of the desired dose and is increased slowly over 1-2 weeks. The usual dosage of penicillamine for treatment is 20mg/kg/d (Max dose- 2 gm/day) in three divided doses, and is given one hour before meals. Although penicillamine is a pyridoxine antagonist, but presently there is no consensus on the need for supplemental pyridoxine…show more content…
Failure to thrive, vomiting, diarrhea and prolonged conjugated hyperbilirubinemia are the commonest presenting symptom. Jaundice and hepatomegaly develop early. Cataract also develops with time. Untreated disease may progress to cirrhosis. Ascites may develop with continued galactose ingestion as the disease progresses and is present in most infants who die due to this

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