Naurin Ali, Sahira Aaraj, Fareeha Farooqui, Munir Iqbal Malik.
A Clinico-Pathological study of Wilsons Disease; 8 Years` Experience of a Tertiary Care Hospital.
J Ayub Med Coll Abottabad Jan ;33(1):30-3.
Background: Wilson`s disease is a genetically transmitted disease and has a variety of clinical manifestations. We evaluated the various clinical and biochemical presentations of Wilson`s disease (WD) at different ages. Methods: This cross-sectional study was conducted in Shifa international hospital and Shifa Foundation Falahi Clinic (SFFC), Islamabad. Data from Jan 2010 to Dec 2018 was retrieved from hospital medical record on a structured proforma. All patients who had twenty-four hours urinary copper level of >=100 mcg/day were included in the study. Their presenting symptoms, clinical signs and lab investigations were noted. Results: Mean age was 13+-4.588 years. Male to female ratio was 1.5:1. Hepatic disease was seen in 35 (68.6%) patients mainly in <10 yrs age group. Pure neurological Wilson`s was seen in 14 (27.45%) cases, which were >10 years of age while 18(35.3%) had hepato-neurological manifestations. Keyser Fleischer rings were present in 26 (51%) of total patients and 14 (100%) of neurological cases. Hepatic transaminases were elevated in 36 (70 %) patients. Low serum cerruloplasmin was seen in 37(72.5%) cases. Mean value of haemoglobin was 10.38+-2.772. Mean 24 hours urinary copper was 597.6+-605.446. Consanguinity was seen among 33 (64.7%) families. Family history of WD was positive in 21(41.2%) patients. Conclusion: Hepatic form of WD is more common, yet neurological presentation is seen in patients >10 years of age.
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