Wilson's disease: a diagnostic dilemma. 1983

H Nazer, and V F Larcher, and R J Ede, and A P Mowat, and R Williams

A 13 year old boy presented with headache, sore throat, myalgia, and fever and subsequently developed haemolytic anaemia and acute liver failure. Wilson's disease, a rare cause of acute liver failure, was diagnosed at necropsy. In such cases Wilson's disease must be diagnosed at an early stage for treatment to be effective. The most reliable indications are increased urinary and hepatic copper concentrations.

UI MeSH Term Description Entries
D008099 Liver A large lobed glandular organ in the abdomen of vertebrates that is responsible for detoxification, metabolism, synthesis and storage of various substances. Livers
D008107 Liver Diseases Pathological processes of the LIVER. Liver Dysfunction,Disease, Liver,Diseases, Liver,Dysfunction, Liver,Dysfunctions, Liver,Liver Disease,Liver Dysfunctions
D008297 Male Males
D003300 Copper A heavy metal trace element with the atomic symbol Cu, atomic number 29, and atomic weight 63.55. Copper-63,Copper 63
D006527 Hepatolenticular Degeneration A rare autosomal recessive disease characterized by the deposition of copper in the BRAIN; LIVER; CORNEA; and other organs. It is caused by defects in the ATP7B gene encoding copper-transporting ATPase 2 (EC 3.6.3.4), also known as the Wilson disease protein. The overload of copper inevitably leads to progressive liver and neurological dysfunction such as LIVER CIRRHOSIS; TREMOR; ATAXIA and intellectual deterioration. Hepatic dysfunction may precede neurologic dysfunction by several years. Cerebral Pseudosclerosis,Neurohepatic Degeneration,Pseudosclerosis,Wilson Disease,Copper Storage Disease,Hepatic Form of Wilson Disease,Hepato-Neurologic Wilson Disease,Hepatocerebral Degeneration,Hepatolenticular Degeneration Syndrome,Kinnier-Wilson Disease,Progressive Lenticular Degeneration,Westphal-Strumpell Syndrome,Wilson Disease, Hepatic Form,Wilson's Disease,Cerebral Pseudoscleroses,Copper Storage Diseases,Degeneration Syndrome, Hepatolenticular,Degeneration Syndromes, Hepatolenticular,Degeneration, Hepatocerebral,Degeneration, Hepatolenticular,Degeneration, Neurohepatic,Degeneration, Progressive Lenticular,Degenerations, Hepatocerebral,Degenerations, Neurohepatic,Disease, Copper Storage,Diseases, Copper Storage,Diseases, Hepato-Neurologic Wilson,Diseases, Kinnier-Wilson,Hepato Neurologic Wilson Disease,Hepato-Neurologic Wilson Diseases,Hepatocerebral Degenerations,Hepatolenticular Degeneration Syndromes,Kinnier Wilson Disease,Kinnier-Wilson Diseases,Lenticular Degeneration, Progressive,Neurohepatic Degenerations,Pseudoscleroses, Cerebral,Pseudosclerosis, Cerebral,Storage Disease, Copper,Storage Diseases, Copper,Syndrome, Hepatolenticular Degeneration,Syndromes, Hepatolenticular Degeneration,Westphal Strumpell Syndrome,Westphal-Strumpell Syndromes,Wilson Disease, Hepato-Neurologic,Wilson Diseases, Hepato-Neurologic,Wilsons Disease
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000208 Acute Disease Disease having a short and relatively severe course. Acute Diseases,Disease, Acute,Diseases, Acute
D000293 Adolescent A person 13 to 18 years of age. Adolescence,Youth,Adolescents,Adolescents, Female,Adolescents, Male,Teenagers,Teens,Adolescent, Female,Adolescent, Male,Female Adolescent,Female Adolescents,Male Adolescent,Male Adolescents,Teen,Teenager,Youths

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