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An inherited disease of copper metabolism dysfunction characterized by cirrhosis and central nervous system (CNS) findings; fatal if not recognized and treated.

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Hepatolenticular Degeneration.

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Genetic disorder most common in Eastern Europeans, Jews, Arabs, Italians, Japanese, Chinese, and Indians.

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1:30,000 in general population.

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Autosomal recessive. Gene localized to chromosome 13.

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Caused by mutation in the ATPase, Cu2+ transporting, beta-polypeptide gene (ATP7B) located at 13q14.3-q21.1. A defect in copper metabolism leads to decreased incorporation of copper into ceruloplasmin and reduction in biliary excretion of copper. This results in deposition of copper into liver (resulting in fatty intracellular accumulations progressing to deposition of collagen, fibrosis, and nodular cirrhosis followed by development of portal hypertension and esophageal and gastric varices), brain (particularly basal ganglia, putamen, globus and pallidus, and caudate, resulting in inflammation, gliosis, and eventually loss of neurons), and kidney (resulting in Fanconi syndrome, aminoaciduria, glycosuria, phosphaturia, and nephrolithiasis). Other systemic involvement may include hemolytic anemia, osteoporosis, copper deposition in heart, rhabdomyolysis, and hypoparathyroidism.

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Based on clinical course and biochemical findings, including low serum ceruloplasmin, elevated 24-hour urinary copper excretion, and liver biopsy.

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Characterized by the involvement of several systems. Hepatic: a spectrum from fulminant liver failure associated with coagulopathy and encephalopathy (more common in children) to chronic progressive cirrhosis with development of portal hypertension. Neurologic: intention tremor, dysarthria, loss of fine motor control, mask-like facies, pseudobulbar involvement, drooling, dysphagia, dystonia, incoordination, difficulty with fine motor tasks, and gait disturbance. Eyes: Kayser-Fleischer rings are almost pathognomonic and appear as a brownish deposit at the periphery of the cornea. Cardiac: rarely develop cardiomyopathy; rhythm abnormalities and increased autonomic tone are observed. Renal: renal complications tend to be functional changes unrelated to identifiable histologic findings. Rarely, patients with Wilson disease develop renal stones and associated symptoms. Renal stones are precipitated by hypercalciuria and poor urine acidification. Musculoskeletal: highly variable and includes osteoporosis, osteomalacia, rickets, spontaneous fractures, and polyarthritis. Skin: skin pigmentation and a bluish discoloration at the base of the fingernails (azure lunulae). Clinical course depends on presentation. With early diagnosis can be effectively treated with chelating agents, including penicillamine, trientine, and zinc.

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Clinical evaluation of the hepatic function and neurologic and cardiac status. Evaluate in particular, coagulation status, and the concentration of serum albumin. The correction of any coagulopathy must be done prior to surgery. Cardiac evaluation, including echocardiogram and ECG must be obtained. Blood examination: cell blood count (CBC), renal function. Evaluate for penicillamine side effects.

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Some degree of liver dysfunction is invariably present and should be considered in selection of anesthetic agents. Consider presence of varices and the possibility of gastrointestinal (GI) bleed. Penicillamine may have significant side effects, including leukopenia, thrombocytopenia, aplastic anemia, nephrotic syndrome, and myasthenia-like syndrome.

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Anesthetic agents requiring hepatic and, to a lesser extent, renal clearance must be used with care. ...

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