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Clinical and Paraclinical Features of Wilson’s Disease in Children in Shiraz, Southern Iran

Seyed Mohsen Dehghani, Asma Erjaee, Mohammad Hadi Imanieh, Mahmood Haghighat, Zohre Bajalli, Abdorrasoul Malekpour

Background: Wilson disease (WD) is an autosomal recessive progressive degeneration of hepatolenticular tissue that causes the increase of copper deposition in the liver and other organs, with resultant hepatic, neurologic and psychological manifestations. WD is fatal if left untreated. The aim of the current study was to evaluate the clinical and Para-clinical findings in children with WD in Shiraz, Southern Iran.

Patients and Methods: The Medical records of all children less than 18 years of age with definite diagnosis of WD, who were admitted in Nemazee Teaching Hospital from 2001 to 2009, or were under follow up at the Pediatric Hepatology Clinic affiliated to Shiraz University of Medical Sciences, were reviewed.

Results: Overall, 70 patients with WD (41 males, 29 females) were studied. The mean age at the onset of diagnosis was 10.3±3.2 years and the most common first presentation in our patients was hepatic (90%). The most common biochemical abnormalities were increased urinary copper content, increased liver enzymes (92.9%), and increased prothrombin time (71.4%). Wilson index was ≥11 in 44.3% of the patients.

Conclusion: WD is a rare and fascinating disorder that often poses a diagnostic and therapeutic challenge for the physician. Maintaining a high index of suspicion is critical in diagnosing this readily treatable disease and early treatment can decrease its mortality rate.

Wilson’s disease; Children; Iran; Clinical Features; Para-clinical Features

Bearn A. A genetical analysis of thirty families with Wilson's disease (hepatolenticular degeneration). Annals of human genetics 2007; 24 (1): 33-43.

Frydman M, Bonné-Tamir B, Farrer LA, Conneally PM, Magazanik A, Ashbel S, et al. Assignment of the gene for Wilson disease to chromosome 13: linkage to the esterase D locus. Proceedings of the National Academy of Sciences 1985; 82 (6): 1819-21.

Fu D, Beeler TJ, Dunn TM. Sequence, mapping and disruption of CCC2, a gene that cross‐complements the Ca2+‐sensitive phenotype of csg1 mutants and encodes a P‐type ATPase belonging to the Cu2+‐ATPase subfamily. Yeast 1995; 11 (3): 283-92.

Thomas GR, Roberts EA, Walshe JM, Cox DW. Haplotypes and mutations in Wilson disease. Am J Hum Genet 1995; 56 (6): 1315-9.

Yamaguchi Y, Heiny ME, Gitlin JD. Isolation and characterization of a human liver cDNA as a candidate gene for Wilson disease. Biochem Biophys Res Commun 1993; 197 (1): 271-7.

Bull PC, Thomas GR, Rommens JM, Forbes JR, Cox DW. The Wilson disease gene is a putative copper transporting P–type ATPase similar to the Menkes gene. Nature genetics 1993; 5 (4): 327-37.

Dastsooz H, Dehghani SM, Imanieh MH, Haghighat M, Moini M, Fardaei M. A new ATP7B gene mutation with severe condition in two unrelated Iranian families with Wilson disease. Gene 2013; 514 (1): 48-53.

Gibbs K, Walshe JM. Biliary excretion of copper in Wilson's disease. Lancet 1980; 2 (8193): 538-9.

Maier-Dobersberger T, Mannhalter C, Rack S, Granditsch G, Kaserer K, Korninger L, et al. Diagnosis of Wilson's disease in an asymptomatic sibling by DNA linkage analysis. Gastroenterology 1995; 109 (6): 2015-8.

Walshe JM. Penicillamine, a new oral therapy for Wilson's disease. Am J Med 1956; 21 (4): 487-95.

Walshe J. Treatment of Wilson's disease with trientine (triethylene tetramine) dihydrochloride. Lancet 1982; 319 (8273): 643-7.

Scheinberg IH, Jaffe ME, Sternlieb I. The use of trientine in preventing the effects of interrupting penicillamine therapy in Wilson's disease. N Engl J Med 1987; 317 (4): 209-13.

Brewer GJ, Hill GM, Prasad AS, Cossack ZT, Rabbani P. Oral zinc therapy for Wilson's disease. Ann Intern Med 1983; 99 (3): 314-9.

Cartwright GE. Diagnosis of treatable Wilson's disease. New Eng J Med 1978; 298 (24): 1347-50.

McCullough AJ, Fleming CR, Thistle JL, Baldus WP, Ludwig J, McCall JT, Dickson ER. Diagnosis of Wilson's disease presenting as fulminant hepatic failure. Gastroenterology 1983; 84 (1): 161-7.

Stremmel W, Meyerrose KW, Niederau C, Hefter H, Kreuzpaintner G, Strohmeyer G. Wilson disease: clinical presentation, treatment, and survival. Ann Intern Med 1991; 115 (9): 720-6.

Asadi pooya AA, Eslami NS, Haghighat M. Wilson disease in Southern Iran.Turk J Gastroenterol 2005; 16 (2): 71-4.

Manolaki N, Nikolopoulou G, Daikos GL, Panagiotakaki E, Tzetis M, Roma E, Kanavakis E, Syriopoulou VP. Wilson disease in children: analysis of 57 cases. J Pediatr Gastroenterol Nutr 2009; 48 (1): 72-7.

Steindl P, Ferenci P, Dienes HP, Grimm G, Pabinger I, Madl C, et al. Wilson’s disease in patients presenting with liver disease: a diagnostic challenge. J Gastroenterol 1997; 113 (1): 212-8.

Medici V, Trevisan CP, D'Incà R, Barollo M, Zancan L, Fagiuoli S, Martines D, Irato P, Sturniolo GC. Diagnosis and management of Wilson's disease: results of a single center experience. J Clin Gastroenterol 2006; 40 (10): 936-41.

Oder W, Grimm G, Kollegger H, Fererci P, Schneider B, Deecke L. Neurological and neuropsychiatric spectrum of wilson’s disease: a prospective study of 45 cases. J Neurol 1991; 238 (5): 281-7.

Dhawan A, Talor RM, Cheeseman P, Silva PD, Katsiyiannakis L, Mieli-vergani G. Wilson’s disease in children:37-year experience and revised king’s score for liver transplantation. J Liver transplant 2005; 11 (4): 441-8.

Cancado EL, Rocha MDS, Barbosa ER, Scaff M, Cerri GG, Magalhaes A, et al. Abdominal ultrasonography in hepatolenticular degeneration. A study of 33 patients. Arq Neuro-Psiquiatria1987; 45 (2): 131-6.

Rosenfield N, Grand RJ, Watkins JB, Ballantine TV, Levey RH. Cholelithiasis and Wilson disease. J Pediatr 1978; 92 (2): 210-3.

Akpinar E, Akhan O. Liver imaging findings of Wilson’s disease. Eur J Radiol 2007; 61 (1): 25-32.

Azizi E, Eshel G, Aladjem M. Hypercalciuria and nephrolithiasis as a presenting sign in Wilson disease. Eur J pediatr 1989; 148: 548-9.

Nakada SY, Brown MR, Rabinowitz R. Wilson’s disease presenting as symptomatic urolithiasis: a case report and review of the literature. J Urol 1994; 152 (3): 978-9.

Wiebers DO, Wilson DM, Mcleod RA, Golstein NP. Renal Stones in Wilson’s disease. American J Med 1979; 67: 249-54.

Ferenci P, Gilliam TC, Gitlin JD, Packman S, Schilsky ML, Sokol RJ, et al. An international symposium on Wilson's and Menkes' diseases. Hepatology 1996; 24 (4): 952-8.

Akhan O, Akpinar E, Karcaaltincaba M, Haliloglu M, Akata D, Karaosmanoglu AD, et al. Imaging findings of liver involvement of Wilson's disease. Eur J Radiol 2009; 69 (1): 145-55.


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