TO EVALUATE THE AUTONOMIC DISTURBANCES IN PATIENTS OF WILSON’S DISEASE

Dr. Sudhir Mehta*

ABSTRACT

Background: Wilson's disease is an autosomal recessive disorder of hepatocyte copper trafficking caused by impaired function of P-type adenosine triphosphatase (ATPase), encoded by ATP7B gene located on chromosome 13q14. Although hepatic system involvement is the major presentation but various systemic and CNS presentations have been known to occur. Various autonomic disturbances have been reported, but not much have been studied in detail. We evaluated the relationship between the disease severity and autonomic disturbances in affected patients. Methods: This study was conducted during 2011-2013 in the department of pediatrics. All the patients under 16 years of age with Wilson disease were included. We evaluated cardiovascular ANS function, including changes in heart rate and blood pressure after performing Valsalva maneuver, tilt test, and cold pressor test. P value<0.05 was considered statistically significant. Results: In this study 21 patients with Wilson’s disease were assessed. The mean (±SD) age of the patients was 10 years (±3.4, range: 1-16).Cardiovascular ANS function in the patients was significantly increased compared with normal values (P<0.05). The correlation between Wilson’s index and some of the indices of cardiovascular ANS function was significant. Conclusion: Wilson’s disease scoring system can be beneficial in predicting patients’ outcome between the severities of ANS involvement and patients’ prognosis, and helping in therapeutic ecision making.

Keywords: Wilson’s disease, Autonomic disturbances, Wilson scoring system.