Abstract
Wilson’s disease is a rare inherited disorder and is characterized by the accumulation of copper in various tissues and also in organs like the liver, brain, kidneys and cornea. Symptoms in paediatrics characteristically appear with hepatic involvement. In this case we have discussed about an eleven-year-old male child, who was presented to the Paediatric department in a tertiary care hospital with chief complaints of yellowish discoloration of eyes, dark coloured urine and high grade fever. Due to the accumulation of copper there were decreased levels of ceruloplasmin and there was an increased 24 hour urinary copper, which confirms the Wilson’s disease in this child. Child was treated with Cephalosporin antibiotics, vitamins, laxative, and bile acid sequestrants. Child showed gradual improvement in clinical symptoms and got discharged without any further event. Quality of evidence was assessed according to the GRADE system. Early diagnosis and management helped to prevent serious complications.
Highlights
Wilson Disease (WD) is an intermittent autosomal receding disease subsequent in a systemic excess of copper
Wilson’s disease occurs due to mutations of the ATP7B gene on chromosome 13, which encrypts a coppertransporting P-type ATPase (ATP7B) that exists in the trans-golgi complex of hepatocytes
ATP7B is mainly liable for enrapturing copper from intracellular chaperone proteins into the secretory pathway, for the both excretion into bile and for the integration into apo-ceruloplasmin for the synthesis of functional ceruloplasmin
Summary
Wilson Disease (WD) is an intermittent autosomal receding disease subsequent in a systemic excess of copper. Final diagnosis of Wilson disease can be recognized using a diagnostic scoring system based on symptoms, biochemical tests which assess copper metabolism and molecular analysis of mutations in the ATP7B gene. Class I-Conditions for which there is evidence and general agreement that a given procedure or treatment is beneficial, useful and effective. We discussed about a case of Wilsons disease, which was diagnosed on an 11 y old male child with ceruloplasmin and 24hr urinary copper levels. The family consulted a local registered medical practitioner and he was given herbal medication once in a week for 3 w, which was to be mixed in curd and taken He developed itching and it got subsided by itself. He was referred to an ophthalmologist and diagnosed as papillar positive; evidence of Kayser-Fleischer ring Patient was found to fit to discharge and Kayser-Flesicher ring in eyes was completely diminished (fig.2) with the following discharge medicine and advised to come for review after 2 w
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