[Wilson disease: a new case treated with trientine].
Hepatolenticular degeneration, also known as Wilson's disease (WD), is an infrequent hereditary disorder which is transmitted in recessive autosomic fashion: its genetic defect is to be found in the long branch of chromosome 13 (13q14.3) and allows disorder to take place which has not been sufficiently clarified, in the bilious excretion of the copper (Cu) which is deposited in an anomalous manner on a level with different organic tissues, giving rise to characteristic clinical manifestations which are, basically, of a neurological, hepatic, psychiatric and ocular nature. We present the case of a young patient whose case began, four years ago, with depressive-type manifestations, with diagnosis only being made now. Our opinion on the early detection of asymptomatic patients is commented on, along with that concerning the effectiveness and safety of therapeutic alternatives to D-penicilamine.
Servicio de Neurología, Hospital del Aire, Madrid.
J L
JL
Moreno Pérez-Crespo
M L
ML
García de la Rocha
A
A
Martín Araguz
N
N
Olmedilla
C A
CA
Rodríguez Arias
J
J
Porta
J M
JM
Moreno Martínez
D000328:Adult; D002540:Cerebral Cortex / Q000503:physiopathology*; D002552:Cerebral Ventricles / Q000002:abnormalities; D002882:Chromosomes, Human, Pair 13; D003300:Copper / Q000097:blood; D005260:Female; D006527:Hepatolenticular Degeneration / Q000175:diagnosis / Q000188:drug therapy* / Q000503:physiopathology*; D006801:Humans; D008279:Magnetic Resonance Imaging; D014057:Tomography, X-Ray Computed; D014266:Trientine / Q000008:administration & dosage / Q000627:therapeutic use*
D003300:Copper; D014266:Trientine
Enfermedad de Wilson: a propósito de un caso tratado con trientine.