Hepatolenticular Degeneration

Hepatolentikulär degeneration

Svensk definition

En sällsynt, autosomalt recessiv sjukdom, vars kännetecken är avlagring av koppar i hjärnan, levern, hornhinnan och andra organ. Kliniska symtom är skrumplever, leversvikt, förstorad mjälte, skakningar, långsamma rörelser, talrubbningar, okontrollerade rörelser, muskelstelhet, Kayser-Fleischerringar (ringformig missfärgning i hornhinnans kanter), ataxi (rubbad muskelkoordination) och intellektuell försämring. Leversvikt kan sätta in flera år före neurologiska störningar.

Engelsk definition

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.

Svenska synonymer

Wilsons sjukdom

Engelska synonymer

Degeneration, Hepatolenticular Pseudosclerosis Wilson Disease Wilson's Disease Wilsons Disease Cerebral Pseudosclerosis Cerebral Pseudoscleroses Pseudoscleroses, Cerebral Pseudosclerosis, Cerebral Hepatolenticular Degeneration Syndrome Degeneration Syndrome, Hepatolenticular Degeneration Syndromes, Hepatolenticular Hepatolenticular Degeneration Syndromes Syndrome, Hepatolenticular Degeneration Syndromes, Hepatolenticular Degeneration Hepato-Neurologic Wilson Disease Diseases, Hepato-Neurologic Wilson Hepato Neurologic Wilson Disease Hepato-Neurologic Wilson Diseases Wilson Disease, Hepato-Neurologic Wilson Diseases, Hepato-Neurologic Hepatocerebral Degeneration Degeneration, Hepatocerebral Degenerations, Hepatocerebral Hepatocerebral Degenerations Kinnier-Wilson Disease Diseases, Kinnier-Wilson Kinnier Wilson Disease Kinnier-Wilson Diseases Westphal-Strumpell Syndrome Westphal Strumpell Syndrome Westphal-Strumpell Syndromes Copper Storage Disease Copper Storage Diseases Disease, Copper Storage Diseases, Copper Storage Storage Disease, Copper Storage Diseases, Copper Progressive Lenticular Degeneration Degeneration, Progressive Lenticular Lenticular Degeneration, Progressive Neurohepatic Degeneration Degeneration, Neurohepatic Degenerations, Neurohepatic Neurohepatic Degenerations Hepatic Form of Wilson Disease Wilson Disease, Hepatic Form