Clinical Profile, Laboratory Characteristics and Treatment of Wilson’s Disease in Children from Western India

Abstract

To study the clinical profile and laboratory characteristics and treatment of children with Wilson’s disease (WD). The current study was done at Department of pediatrics, Sir Padampat Institute of Neonatology and Pediatric Health, Sawai Man Singh Medical College, Jaipur. It was an observational study and institution ethics committee approved the study. Patients visiting the outpatient department or admitting in wards with clinical presentation suggestive of WD were enrolled in the study after obtaining a valid informed written consent. Patients subjected to detailed clinical history and physical examination. All patients subjected to routine blood count, biochemistry including liver function tests and specific laboratory investigations. They underwent ophthalmological examination. Ultrasonography abdomen and liver biopsy performed in enrolled patients. Magnetic resonance imaging brain carried out in patients with neurological WD. Ferenci score was calculated for each of the patients. Total 50 patients were included in the study. Mean age at the time of diagnosis was 9.4 years with delay of 11 months after onset of symptoms. Male is to female ratio was 2/1. Hepatic manifestation were seen in 76% patients and 24% patients presented with neurological disease. Kayser-Fleischer ring was seen in 44% patients with hepatic disease and 83% patients with neurological disease. Twenty-four hour urinary copper was more than 2 time of upper limit of normal in all patients. Fifty-four percent patients showed improvement with chelation therapy and 9 patients died during the study period. WD in children has varied clinical manifestation and early diagnosis is necessary for good prognosis. It requires wide range of tests as genetic testing is not easily available. Acute liver failure has high mortality. Early chelation therapy reverses the clinical and biochemical abnormalities.

Keywords

• wilson’s disease
• kf ring
• liver failure
• ceruloplasmin
• penicillamine