Misc. - 5 Flashcards
what is another name for wilson disease?
hepatolenticular degeneration
what is wilson’s disease?
abnormal storage of copper
why there is abnormal storage of copper in wilson disease?
fail to excrete
where do the copper is stored excessively?
Brain and Liver & cornea
what is degenerated in brain in wilson’s disease?
lenticular nucleus (putamen and globus pallidus)
genetic of wilson’s disease
autosomal recessive
pathology of wilson’s disease
pathological extra storage of copper
excessive absorption of copper
which gene defect is responsible for wilson?
ATP7B, chromosome 13
what does ATP7B do?
transport & incorporates copper with ceruloplasmin
onset of wilson’s
10-25
presentation of wilson in children?
liver disease
presentation of Wilson in adult?
neurological
Features of Wilson’s disease: Liver
hepatitis
cirrhosis
Features of Wilson’s disease: Brain
Basal ganglia degeneration
Speech and behavioural problems
Asterixis (flapping tremor)
Chorea
Dementia
Features of Wilson’s disease: cornea
Kayser-Fleischer ring (brown ring on the edge of cornea)
Features of Wilson’s disease: systematic
-Renal Tubular acidosis (Fanconi syndrome)
-Haemolysis
-Blue nails
Dx of Wilson’s disease
Reduced serum caeruloplasmin
Reduced serum copper
Increased 24 hours copper in urine
% of patients who will show reduced caeroluprlamin and copper serum level
90-95%
Rx of wilson’s disease
Penicillamine
Trientine hydrocholride
Tetrathiomolhbdate
1st line treatment in wilson disease?
Penicillamine (chelates copper)
agent under investigation for wilson’s disease?
tetrathiomolybdate
alternative to penicillamine in Wilson’s disease
trientine hydrochloride
How many countries participate in WMH survey?
approx 30
what is WMH survey
world mental health survey
