Biomaterial Database

[Hemolytic anemia and liver failure -- a manifestation of Wilson's disease (author's transl)]. 1981

G Finkenstedt, and H Braunsteiner

Wilson's disease is a rare inherited disorder of copper metabolism causing severe damage to vital organs. Effective therapy with partial or complete remissions is possible when diagnosis is established early. The first manifestation usually occurs in childhood or early adult life with signs of liver failure and/or hemolytic anemia (stage II), as in the presented case, or with symptoms of extrapyramidal cerebral disease (stage IV). Wilson's disease should be ruled out in all patients below the age of 30 years presenting with liver disease, Coombs-negative, non spherocytic hemolytic anemia or neuropsychiatric disorders of unknown etiology.

UI	MeSH Term	Description	Entries
D008103	Liver Cirrhosis	Liver disease in which the normal microcirculation, the gross vascular anatomy, and the hepatic architecture have been variably destroyed and altered with fibrous septa surrounding regenerated or regenerating parenchymal nodules.	Cirrhosis, Liver,Fibrosis, Liver,Hepatic Cirrhosis,Liver Fibrosis,Cirrhosis, Hepatic
D003300	Copper	A heavy metal trace element with the atomic symbol Cu, atomic number 29, and atomic weight 63.55.	Copper-63,Copper 63
D003937	Diagnosis, Differential	Determination of which one of two or more diseases or conditions a patient is suffering from by systematically comparing and contrasting results of diagnostic measures.	Diagnoses, Differential,Differential Diagnoses,Differential Diagnosis
D005260	Female		Females
D006501	Hepatic Encephalopathy	A syndrome characterized by central nervous system dysfunction in association with LIVER FAILURE, including portal-systemic shunts. Clinical features include lethargy and CONFUSION (frequently progressing to COMA); ASTERIXIS; NYSTAGMUS, PATHOLOGIC; brisk oculovestibular reflexes; decorticate and decerebrate posturing; MUSCLE SPASTICITY; and bilateral extensor plantar reflexes (see REFLEX, BABINSKI). ELECTROENCEPHALOGRAPHY may demonstrate triphasic waves. (From Adams et al., Principles of Neurology, 6th ed, pp1117-20; Plum & Posner, Diagnosis of Stupor and Coma, 3rd ed, p222-5)	Encephalopathy, Hepatic,Portosystemic Encephalopathy,Encephalopathy, Hepatocerebral,Encephalopathy, Portal-Systemic,Encephalopathy, Portosystemic,Fulminant Hepatic Failure with Cerebral Edema,Hepatic Coma,Hepatic Stupor,Hepatocerebral Encephalopathy,Portal-Systemic Encephalopathy,Coma, Hepatic,Comas, Hepatic,Encephalopathies, Hepatic,Encephalopathies, Hepatocerebral,Encephalopathies, Portal-Systemic,Encephalopathies, Portosystemic,Encephalopathy, Portal Systemic,Hepatic Comas,Hepatic Encephalopathies,Hepatic Stupors,Hepatocerebral Encephalopathies,Portal Systemic Encephalopathy,Portal-Systemic Encephalopathies,Portosystemic Encephalopathies,Stupor, Hepatic,Stupors, Hepatic
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
D000328	Adult	A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available.	Adults
D000743	Anemia, Hemolytic	A condition of inadequate circulating red blood cells (ANEMIA) or insufficient HEMOGLOBIN due to premature destruction of red blood cells (ERYTHROCYTES).	Anemia, Hemolytic, Acquired,Anemia, Microangiopathic,Haemolytic Anaemia,Hemolytic Anemia,Hemolytic Anemia, Acquired,Microangiopathic Hemolytic Anemia,Acquired Hemolytic Anemia,Anaemia, Haemolytic,Anemia, Acquired Hemolytic,Anemia, Microangiopathic Hemolytic,Haemolytic Anaemias,Hemolytic Anemia, Microangiopathic,Microangiopathic Anemia,Microangiopathic Hemolytic Anemias