A CLINICO-PATHOLOGICAL STUDY OF WILSONS DISEASE; 8 YEARS’ EXPERIENCE OF A TERTIARY CARE HOSPITAL

Authors

  • Naurin Ali shifa tameer e millat university
  • Sahira Aaraj Department of Paediatrics, Shifa Tameer e Millat University, Islamabad-Pakistan
  • Fareeha Farooqui Department of Surgery, Shifa Tameer e Millat University, Islamabad-Pakistan
  • Munir Iqbal Malik Department of Paediatrics, Shifa Tameer e Millat University, Islamabad-Pakistan

Abstract

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. Keywords: Hepatolenticular degeneration; Keysher Fleischer rings; Neurological; Wilson’s disease (WD); Copper metabolism

Author Biography

Naurin Ali, shifa tameer e millat university

Department of Paediatrics, shifa tameer e millat university, Islamabad-Pakistan

References

References

Rukunuzzaman Md. Wilson’s Disease in Bangladeshi children: Analysis from 100 Cases.

Pediatr Gastroenterol Hepatol Nutr.2015;18 (2): 121-127.

Nagral A,Sarma MS,Matthai J,Kukkle LP,Devarbhavi H and Sinha S etal. Wilson’s Disease: Clinical Practice Guidelines of the Indian National Association for Study of the Liver, the Indian Society of Pediatric Gastroenterology, Hepatology and Nutrition, and the Movement Disorders Society of India.

Journal of clinical and experimental hepatology .2019; 9 (1): 74-98.

Socha P ,Janczyk W,Dhawan A ,Baumann U ,Antiga AD and Tanner S et al. Wilsons disease

in children: A position paper by the hepatology committee of the European Society for

Paediatric Gastroenterology,hepatology and nutrition.JPGN 2018;66:334-344.

Roberts EA and Schilsky ML; American Association for Study of Liver Diseases (AASLD).

Diagnosis and treatment of Wilson disease: an update. Hepatology 2008; 47(6): 2089-111.

Aggarwal A, Bhatt M. Advances in treatment of Wilson disease. Tremor Other Hyperkinet Mov. 2018; 8:1-13

Korman JD, Volenberg I, Balko J, Webster J, Schiodt FV and Squires RH Jr et al; Paediatric

and Adult Acute Liver Failure Study Groups. Screening for Wilson disease in acute liver

failure: a comparison of currently available diagnostic tests. Hepatology 2008; 48:1167- 74.

Samiullah S, Salma S, Faheemullah S and Iftikar K. Wilsons’ Disease: Various shapes of

one disease. Pak J Med Sci 2010; 26(1):158-162

Bayram AK, Gumus H, Arslan D ,Ozcora GK , Kumandas S and Karacabey N etal.

Neurological features and management of Wilson’s disease in children: an evaluation of 12

cases. Turk Pediatri Ars 2016; 51:15-21.

Sahoo MK, Avasthi A, Sahoo M, Modi M and Biswas P. Psychiatric manifestations of

Wilson's disease and treatment with electroconvulsive therapy. Indian J Psychiatry 2010;

:66-8.

Javed MA, Zia S, Ashraf S and Mehmood S. Neurological and neuropsychiatric spectrum

of Wilson’s disease in local population. E:/Biomedica Vol.24 Jan –Jun.2008/Bio-R (A)

Parkash O, Ayub A, Jafri W, Alishah SH and Hamid S. Wilson's disease: Experience at a

tertiary care hospital. J Coll Physicians Surg Pak. 2013; 23(7):525-6.

Shribman S, Warner TT and Dooley JS. Clinical presentations of Wilson disease. Ann Transl Med. 2019; 7(2):1-15.

Dzieżyc-Jaworska K, Litwin T, Członkowska A. Clinical manifestations of Wilson disease in organs other than the liver and brain. Ann Transl Med 2019;7(62):1-7

Mansoor S, Naveed AK and Majeed A. Analysis of clinical and biochemical spectrum of Wilsons disease patients. Indian J pathol microbiol 2012; 55:365-9.

Medici V, Trevisan CP, D Inca R, Barollo M, Zancan L and Fagiuoli S et al. Diagnosis and

management of Wilson’s disease: result of a single centre experience. J Clan Gastroenterol

; 40:936-41.

Ala A, Walker AP, Askhan K, Dooley JS and Schilsky ML. Wilson’s disease. Lancet 2007;

:397-408.

.Ferenci P, Czlonkowska A, Merle U, Szalay F, Gromadzka G and Yurdaydin C, et al. Late

onset Wilson disease. Gastroenterology 2007; 132: 1294–1298.

Czlonkowska A, Rodo M and Gromadzka G. Late onset Wilson’s disease: therapeutic

implications. Mov Disord 2008; 23:897–899.

Ferenci P. Diagnosis of Wilsons Disease. Handb Clin Neurol. 2017; 142:171-180.

EASL Clinical Practice Guidelines: Wilson’s disease. Journal of Hepatology 2012 vol. 56

j 671–685

Taly AB, Prashant LK and Sinha. Wilsons disease: An Indian perspective. Neurology

India. 2009; 57:528-540.

Wang LC, Wang JD, Tsai CR, Cheng SB and Lin CC. Clinical features and therapeutic

response in Taiwanese children with Wilsons Disease:12 years’ experience in a single centre

.Pediatr Neonatol 2010;51(2):124-129.

Javed MA, Zia S, Ashraf S and Mehmood S. Neurological and neuropsychiatric spectrum

of Wilsons disease in local population. Biomedica 2008; 24:37-41.

LitwinT, DusekPand Czlonkowska A.Wilsons disease Pathogenesis, Molecular

Mechanisms, Diagnosis, Treatment and Monitoring. Academic press Elsevier 2019;

Published

2021-02-20

Issue

Vol. 33 No. 1 (2021): Journal of Ayub Medical College, Abbottabad

Section

ORIGINAL ARTICLE

License

Journal of Ayub Medical College, Abbottabad is an OPEN ACCESS JOURNAL which means that all content is FREELY available without charge to all users whether registered with the journal or not. The work published by J Ayub Med Coll Abbottabad is licensed and distributed under the creative commons License  CC BY ND Attribution-NoDerivs. Material printed in this journal is OPEN to access, and are FREE for use in academic and research work with proper citation. J Ayub Med Coll Abbottabad accepts only original material for publication with the understanding that except for abstracts, no part of the data has been published or will be submitted for publication elsewhere before appearing in J Ayub Med Coll Abbottabad. The Editorial Board of J Ayub Med Coll Abbottabad makes every effort to ensure the accuracy and authenticity of material printed in J Ayub Med Coll Abbottabad. However, conclusions and statements expressed are views of the authors and do not reflect the opinion/policy of J Ayub Med Coll Abbottabad or the Editorial Board.

USERS are allowed to read, download, copy, distribute, print, search, or link to the full texts of the articles, or use them for any other lawful purpose, without asking prior permission from the publisher or the author. This is in accordance with the BOAI definition of open access.

AUTHORS retain the rights of free downloading/unlimited e-print of full text and sharing/disseminating the article without any restriction, by any means including twitter, scholarly collaboration networks such as ResearchGate, Academia.eu, and social media sites such as Twitter, LinkedIn, Google Scholar and any other professional or academic networking site.