|Written by Dr.Md.Redwanul Huq (Masum)|
|Sunday, 15 January 2012 16:29|
It is an autosomal recessive disorder which is caused by mutations in ATP7B gene on chromosome 13 and involve liver, brain, eyes, kidneys and skeleton.
Clinical features of Wilson’s diseases:
I) Hepatic features-
i. Acute hepatitis
ii. Acute fulminant hepatic failure
iii. Recurrent hepatitis (occasional)
iv. Portal hypertension
v. Chronic hepatitis including cirrhosis of liver
vi. Liver failure.
II) Neurologic features-
i. Unusual clumsiness for age
viii. Migraine-type headaches
x. Memory loss
xii. Autonomic disturbances like orthostatic hypotension, sweating abnormalities, bowel disorder, bladder disorder and sexual dysfunction
III) Eye feature-
Kayser-Fleischer rings (characterized by greenish-brown discoloration of the corneal margins appearing first at the upper periphery) due to copper deposits in the outer rim of the corneas.
IV) Psychiatric features-
i. Behavioral disturbances
iii. Loss of emotional control
v. Loss of sexual inhibition.
V) Other features-
ii. Spontaneous abortions
iii. Osteoarthritis (particularly of the knee joints)
- Serum ceruloplasmin – Low
- Free serum copper concentration – High
- Urine copper excretion – High (greater than 0.6 micromol/24 hrs)
- Hepatic copper content – Very high
- 24-hour urinary copper excretion (while taking D-penicillamine) – more than 25 micromol/24 hrs(confirmatory test of wilson’s disease)
- Haplotype analysis – 2 Matches.
- Penicillamine – 1.5 g/day (1-4 g/day)
- Pyridoxine – 25 mg/d along with Penicillamine
- Trientine dihydrochloride (1.2-2.4 g/day) and zinc (50 mg 8-hourly) – if toxic effects of Penicillamine occur
- Liver transplantation in case of fulminant liver failure or advanced cirrhosis with liver failure.