title: [Wilson's disease: difficulties in diagnosis and therapeutic management in our country].
abstract: The clinical analytical and therapeutic results of a retrospective study of 11 cases of Wilson's disease carried out in "La Fe" Hospital in Valencia are presented. The disease had a neurological onset in 5 cases, an hepatic onset in 4 cases (3 acute hepatitis and 1 chronic hypertransaminemia), 2 cases started as an acute hemolytic anemia; one of the outbreaks occurred during a period of treatment interruption. Diagnosis showed some difficulty in one case since the disease was associated with positive hepatitis B markers, positive anti HIV antibodies and initially normal ceruloplasminemia values. The diagnostic difficulties derived from the interpretation of ceruloplasminemia, and blood and urine copper levels are pointed out as well as the difficulties encountered in our environment to determine intrahepatic copper levels and to perform a kinetic study with radioactive copper both of which are of vital importance to confirm doubtful cases. Two patients became pregnant in the course of the disease having normal pregnancies and deliveries, without any apparent abnormalities in the newborns. Treatment with D-Penicillamine was started in 9 cases, observing a low to moderate intolerance in 7 cases; there was one case of severe intolerance for which treatment had to be interrupted. The new therapeutical approaches based on the use of trientine (not available in our country) are discussed, together with the expectations of liver transplant in this disease.
authors.forename: E
authors.initials: E
authors.lastname: Sempere
authors.forename: F
authors.initials: F
authors.lastname: Pérez-Aguilar
authors.forename: J A
authors.initials: JA
authors.lastname: Burguera
authors.forename: J
authors.initials: J
authors.lastname: Berenguer
mesh_terms: D000293:Adolescent; D000328:Adult; D000743:Anemia, Hemolytic / Q000209:etiology; D002648:Child; D005190:Family; D005260:Female; D006527:Hepatolenticular Degeneration / Q000150:complications / Q000175:diagnosis* / Q000628:therapy; D006801:Humans; D008107:Liver Diseases / Q000209:etiology; D008297:Male; D009422:Nervous System Diseases / Q000209:etiology; D012189:Retrospective Studies; D013030:Spain
vernacular_title: Enfermedad de Wilson: dificultades en el diagnóstico y manejo terapéutico en nuestro país.