Article Text

  1. T L Pop1,
  2. N Miu1
  1. 12nd Pediatric Clinic, University of Medicine and Pharmacy, Cluj-Napoca, Romania


Background Wilson’s disease is a rare autosomal recessive disease of copper metabolism with different possibilities of clinical presentation and evolution in children, most frequently as chronic hepatitis.

Aim To present the different possibilities of clinical onset and evolution of Wilson’s disease in children.

Patients and methods We present clinical observations of three brothers (aged 8, 13 and 18 years) with Wilson’s disease diagnosed, treated and followed-up since 2006. The diagnostic was done by clinical examination, liver tests, serum ceruloplasmine, serum copper and 24-hour urinary copper levels and ophthalmologic examination. Wilson’s disease was confirmed by genetic tests.

Clinical observations The clinical presentations of Wilson’s disease were different: asthenia and elevated transaminases (ALAT 190 U/l, ASAT 103 U/l) in the 8-year-old patient, liver cirrhosis with synthesis deficiency, ascites and Kayser-Fleischer ring without any episodes of elevated transaminases in the 13-year-old patient and mild and intermittent elevation of transaminases without any symptoms in the 18-year-old patient. Level of serum ceruloplasmine was decreased (9.3 mg/dl, 5.8 mg/dl, 7.4 mg/dl) and 24-hour urinary excretion was increase (105 μg/24 h, 88 μg/24 h, 89 μg/24 h) in all brothers. The genetic tests confirmed the Wilson’s disease diagnostic: all brothers were homozygotes for G1341D mutation. All patients are treated with zinc therapy and d-penicillamine treatment was introduced in the 8- and 13-year-old patients with a steady evolution of the disease and without any adverse effects.

Conclusion Wilson’s disease must be evaluated in differential diagnosis of chronic hepatitis. In the same family there is the possibility of different manifestations of Wilson’s disease, even if the genetic mutation is the same.

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