Pediatr Gastroenterol Hepatol Nutr.  2015 Jun;18(2):121-127. 10.5223/pghn.2015.18.2.121.

Wilson's Disease in Bangladeshi Children: Analysis of 100 Cases

• Rukunuzzaman M

• KMID: 2315559
• DOI: http://doi.org/10.5223/pghn.2015.18.2.121

Abstract

PURPOSE
To evaluate clinical and laboratory profile of Wilson's disease (WD) in children.
METHODS
This cross sectional study was conducted at Bangabandhu Sheikh Mujib Medical University Hospital. Bangladesh, over a period of 3 years. One hundred consecutive children of WD between 3 to 18 years of age were evaluated.
RESULTS
Mean age was 8.5+/-1.5 years. Male female ratio was 2:1. Ninety-one percent of patients were Muslim and 9% Hindu. A total of 53% cases of hepatic WD presented between 5 to 10 years of age and most of the neurologic WD manifested in 10-15 years age group. Sixty-nine children presented only with hepatic manifestations, 6 only with neurological manifestations, 14 with both hepatic and neurological manifestation, 10 children was asymptomatic and 1 patient presented with psychiatric features. WD presented as chronic liver disease (CLD) in 42%, CLD with portal hypertension in 34%, acute hepatitis in 20% and fulminant hepatic failure in 4% cases. Stigmata of CLD were found in 18% patients. Keiser-Fleischser ring was found in 76% total patients. Elevated serum transaminase was found in 85% cases, prolonged prothrombin time in 59% cases and hypoalbuminaemia in 53% cases. A total of 73% patients had low serum ceruloplasmin, basal urinary copper of >100 microg/day was found in 81% cases and urinary copper following penicillamine challenge of >1,200 microg/day was found in 92% cases.
CONCLUSION
Majority of studied WD children presented with hepatic manifestation of which 76% presented with CLD. Any child presented with jaundice after the age of 3 years should be investigated for WD.

Keyword

Bangladesh; Child; Wilson's disease

MeSH Terms

Bangladesh
Ceruloplasmin
Child*
Christianity
Copper
Female
Hepatitis
Hepatolenticular Degeneration*
Humans
Hypertension, Portal
Islam
Jaundice
Liver Diseases
Liver Failure, Acute
Male
Neurologic Manifestations
Penicillamine
Prothrombin Time
Ceruloplasmin
Copper
Penicillamine

Reference

1. European Association for Study of Liver. EASL Clinical Practice Guidelines: Wilson's disease. J Hepatol. 2012; 56:671–685.

2. Sokol RJ, O'connor JA. Copper metabolism and copper storage disorders. In : Suchy FJ, Sokol RJ, Balistreri WF, editors. Liver disease in children. 3rd ed. NewYork: Cambridge University Press;2007. p. 626–652.

3. Roberts EA, Schilsky ML. American Association for Study of Liver Diseases (AASLD). Diagnosis and treatment of Wilson disease: an update. Hepatology. 2008; 47:2089–2111.

4. Rosencrantz R, Schilsky M. Wilson disease: pathogenesis and clinical considerations in diagnosis and treatment. Semin Liver Dis. 2011; 31:245–259.

5. Korman JD, Volenberg I, Balko J, Webster J, Schiodt FV, Squires RH Jr, et al. Screening for Wilson disease in acute liver failure: a comparison of currently available diagnostic tests. Hepatology. 2008; 48:1167–1174.

6. Czaja AJ, Freese DK. American Association for the Study of Liver Disease. Diagnosis and treatment of autoimmune hepatitis. Hepatology. 2002; 36:479–497.

7. Lang C, Müller D, Claus D, Druschky KF. Neuropsychological findings in treated Wilson's disease. Acta Neurol Scand. 1990; 81:75–81.

8. Wolf TL, Kotun J, Meador-Woodruff JH. Plasma copper, iron, ceruloplasmin and ferroxidase activity in schizophrenia. Schizophr Res. 2006; 86:167–171.

9. Pandey RS, Swamy HS, Sreenivas HS, John CJ. Depression in Wilson's disease. Indian J Psychiatry. 1981; 23:82–85.

10. Sahoo MK, Avasthi A, Sahoo M, Modi M, Biswas P. Psychiatric manifestations of Wilson's disease and treatment with electroconvulsive therapy. Indian J Psychiatry. 2010; 52:66–68.

11. Kumar MK, Kumar V, Singh PK. Wilson's disease with neurological presentation, without hepatic involvement in two siblings. J Clin Diagn Res. 2013; 7:1476–1478.

12. Subrahmanyam DK, Vadivelan M, Giridharan S, Balamurugan N. Wilson's disease-a rare cause of renal tubular acidosis with metabolic bone disease. Indian J Nephrol. 2014; 24:171–174.

13. Fatima J, Karoli R, Jain V. Hypoparathyroidism in a case of Wilson's disease: Rare association of a rare disorder. Indian J Endocrinol Metab. 2013; 17:361–362.

14. Ferenci P, Caca K, Loudianos G, Mieli-Vergani G, Tanner S, Sternlieb I, et al. Diagnosis and phenotypic classification of Wilson disease. Liver Int. 2003; 23:139–142.

15. Wilson DC, Phillips MJ, Cox DW, Roberts EA. Severe hepatic Wilson's disease in preschool-aged children. J Pediatr. 2000; 137:719–722.

16. Kleine RT, Mendes R, Pugliese R, Miura I, Danesi V, Porta G. Wilson's disease: an analysis of 28 Brazilian children. Clinics (Sao Paulo). 2012; 67:231–235.

17. El-Karaksy H, Fahmy M, El-Raziky MS, El-Hawary M, El-Sayed R, El-Koofy N, et al. A clinical study of Wilson's disease: The experience of a single Egyptian Paediatric Hepatology Unit. Arab J Gastroenterol. 2011; 12:125–130.

18. Jha SK, Behari M, Ahuja GK. Wilson's disease: clinical and radiological features. J Assoc Physicians India. 1998; 46:602–605.

19. Taly AB, Meenakshi-Sundaram S, Sinha S, Swamy HS, Arunodaya GR. Wilson disease: description of 282 patients evaluated over 3 decades. Medicine (Baltimore). 2007; 86:112–121.

20. Tryambak S, Sumanta L, Radheshyam P, Sutapa G. Clinical profile, prognostic indicators and outcome of Wilson's disease in children: a hospital based study. Trop Gastroenterol. 2009; 30:163–166.

21. Merle U, Schaefer M, Ferenci P, Stremmel W. Clinical presentation, diagnosis and long-term outcome of Wilson's disease: a cohort study. Gut. 2007; 56:115–120.

22. Saito T. An assessment of efficiency in potential screening for Wilson's disease. J Epidemiol Community Health. 1981; 35:274–280.

23. Medici V, Trevisan CP, D'Incà R, Barollo M, Zancan L, Fagiuoli S, et al. Diagnosis and management of Wilson's disease: results of a single center experience. J Clin Gastroenterol. 2006; 40:936–941.

24. Cavanaugh J, Niewoehner CB, Nuttall FQ. Gynecomastia and cirrhosis of the liver. Arch Intern Med. 1990; 150:563–565.

25. Li CP, Lee FY, Hwang SJ, Chang FY, Lin HC, Lu RH, et al. Spider angiomas in patients with liver cirrhosis: role of alcoholism and impaired liver function. Scand J Gastroenterol. 1999; 34:520–523.

26. Epstein O, Dick R, Sherlock S. Prospective study of periostitis and finger clubbing in primary biliary cirrhosis and other forms of chronic liver disease. Gut. 1981; 22:203–206.

27. Karnath B. Stigmata of chronic liver disease. Hospital Physician. 2013; 39:14–16.

28. Deguti MM, Tietge UJ, Barbosa ER, Cancado EL. The eye in Wilson's disease: sunflower cataract associated with Kayser-Fleischer ring. J Hepatol. 2002; 37:700.

29. Iorio R, D'Ambrosi M, Marcellini M, Barbera C, Maggiore G, Zancan L, et al. Hepatology Committee of Italian Society of Paediatric Gastroenterology Hepatology and Nutrition. Serum transaminases in children with Wilson's disease. J Pediatr Gastroenterol Nutr. 2004; 39:331–336.

30. Hellman NE, Gitlin JD. Ceruloplasmin metabolism and function. Annu Rev Nutr. 2002; 22:439–458.

31. Ziakas A, Gavrilidis S, Souliou E, Giannoglou G, Stiliadis I, Karvounis H, et al. Ceruloplasmin is a better predictor of the long-term prognosis compared with fibrinogen, CRP, and IL-6 in patients with severe unstable angina. Angiology. 2009; 60:50–59.

32. Virit O, Selek S, Bulut M, Savas HA, Celik H, Erel O, et al. High ceruloplasmin levels are associated with obsessive compulsive disorder: a case control study. Behav Brain Funct. 2008; 4:52.

33. Dhawan A, Taylor RM, Cheeseman P, De Silva P, Katsiyiannakis L, Mieli-Vergani G. Wilson's disease in children: 37-year experience and revised King's score for liver transplantation. Liver Transpl. 2005; 11:441–448.