wilson's disease review article pdf
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The purpose of present review is to summarize pathophysiology, clinical manifestations, diagnosis and treatment of Wilson disease. 23 0 obj
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D-penicillamine, Vit c, Zinc, trientine, liver transplantation is used to treat Wilson disease. <<
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The gene responsible for Wilson disease was identified in 1993. 0000006810 00000 n
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Wilson disease is an inherited autosomal recessive disease of copper metabolism resulting in copper toxicity. Walshe JM (1988) Diagnosis and treatment of presymptomatic Wilson's disease. Caroline A. Riely 1. /Size 42
He first described the neurological form of disease, which ran in family .
In Sternlieb I (1990) Perspectives on Wilson's disease.
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But, as a chronic life-threatening disease that is treatable, even "curable," its investigation should be thoroughly pursued by the pediatrician. 0000010955 00000 n
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disease do not possess two of these three criteria and pose a challenge in trying to establish the diagnosis.19 More-over, as with other liver diseases, patients may come to medical attention when their clinical disease is compara-tively mild. 0000009550 00000 n
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This was first described in 1912 by Kinnier Wilson as ‘progressive lenticular degeneration.
Walshe JM (1999) Penicillamine: the treatment of first choice for patients with Wilson's disease. <<
Key words: ATP7B gene, copper, diagnosis, treatment, wilson disease.
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We would like to thank the patient for allowing publication of Movement Disorders Clinic, Bangur Institute of NeurologyMolecular & Human Genetics Division, Indian Institute of Chemical Biology, Kolkata, IndiaYou can also search for this author in 0000000852 00000 n
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The manifestations of the disease are related directly to this accumulation of copper. Internet Explorer). 0000000017 00000 n
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and JavaScript.Wilson's disease (WD) is an inborn error of copper metabolism caused by a mutation to the copper-transporting gene Wilson's disease is an inborn error of copper metabolism caused by a mutation to the copper-transporting gene Diagnosis of the condition is made primarily on the basis of clinical findings, presence of the Kayser–Fleischer ring, and biochemical parametersA new scoring system for diagnosis of the condition was proposed at the 8th International Conference on Wilson Disease and Menkes Disease, 2001Treatment involves the use of a chelating agent, the most commonly used being Liver transplantation can be used for complete reversal of the metabolic abnormalityEarly detection of presymptomatic individuals in affected families can be achieved by polymerase-chain-reaction-based linkage analysis using microsatellite markersGet time limited or full article access on ReadCube.Wilson SAK (1912) Progressive lenticular degeneration: a familial nervous disease associated with cirrhosis of the liver. 0000007966 00000 n
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He speculated that it was caused by liver disease1. Wilson's disease statistics.
The frequency of this mutation in random DNA samples from 2601 US Caucasian newborns to be 0.285%. /T 35410
Albert Einstein College of Medicine, Montefiore Medical Center, Bronx, NY Wilson disease (hepatolenticular degeneration) is an autosomal recessive, inherited disorder of copper metabolism resulting in excessive accumulation of copper in the liver, brain, and other organs of the body. /Contents 23 0 R
Wilson's disease is an inherited disorder of copper metabolism caused by a mutation in the copper-transporting gene ATP7B, and it results in excessive copper accumulation in the liver and brain. The authors declare no competing financial interests.Das, S., Ray, K. Wilson's disease: an update.
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Frommer DJ (1974) Defective biliary excretion of copper in Wilson's disease. Starosta-Rubinstein S (1995) Treatment of Wilson disease. 0000007010 00000 n
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Harris ED (2000) Cellular copper transport and metabolism.
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