[Wilson's disease: a review apropos of a clinical experience in 16 patients].
Wilson's Disease is an inherited disorder of copper metabolism. We report 16 patients (6 males) with the disease; 6 had hepatic involvement exclusively, 4 had neurological involvement, 3 had a neurological and hepatic involvement and 3 were asymptomatic. The age onset was 9 years for hepatic and 17 years for neurologic involvement. The mean delay in diagnosis was 14 months. Chronic hepatitis, cirrhosis and fulminant hepatic failure were the clinical forms of liver disease. Patients with neurologic disorders had behavioral disturbances and extrapyramidal manifestations such as dystonia and parkinsonism. Patients had a good response to penicillamine, except 3 that died of liver complications, in whom the treatment was delayed or discontinued. We conclude that this metabolic disease must be suspected in pubertal children and in adults of less than 30 years old with liver disease of unknown origin or behavioral alterations associated to an extrapyramidal syndrome.
Miranda
M
M
Servicio de Medicina, Hospital Félix Bulnes, Santiago de Chile.
Brinck
P
P
Roessler
J L
JL
Troncoso Sch
M
M
González
M
M
Alarcón
T
T
Villagra
R
R
D000293:Adolescent; D000328:Adult; D002493:Central Nervous System Diseases / Q000175:diagnosis*; D002570:Ceruloplasmin / Q000032:analysis; D002648:Child; D002675:Child, Preschool; D003300:Copper / Q000097:blood / Q000652:urine; D005260:Female; D006527:Hepatolenticular Degeneration / Q000150:complications / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics; D006801:Humans; D008099:Liver / Q000473:pathology; D008107:Liver Diseases / Q000175:diagnosis*; D008297:Male; D010396:Penicillamine / Q000627:therapeutic use; D011247:Pregnancy; D011736:Pyridoxine / Q000627:therapeutic use; D012189:Retrospective Studies; D014057:Tomography, X-Ray Computed
D003300:Copper; D002570:Ceruloplasmin; D010396:Penicillamine; D011736:Pyridoxine
Enfermedad de Wilson: una revisión a propósito de experiencia clínica en 16 pacientes.