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ȱȱȱȱDZȱȱȱȱȱ
ȱȱ
ȱ
ȱǯȱ ȱ
ȱ
ȱȱȱ ¢ǰȱ
¢ȱȱǰȱȱȱǰȱȱȱȱȱȱ ȱ
ǰȱ
¢ȱȱȱȱȱ
ȱ
ȱ
ABSTRACT ȱȱ
Wilson disease is an autosomal recessive disorder of copper ȱ ŗǯȱ ȱ ȱ śƙȬ¢ȱ ȱ ȱ ȱ ȱ ȱ
metabolism that is rarely reported among Filipinos. Four ȱȱȱȱŗŚŖȱȱśřśȱȦȱǻDZȱŖȬřŞǼǯȱȱ
children with Wilson disease presenting with various hepatic ȱ ȱ ȱ ȱ ȱ ȱ ȱ ȱ Ȃȱ ŞȬ¢ȱ
manifestations, namely, an asymptomatic elevation of
ȱȱȱȱȱȱȱȱȱ¢ȱ
transaminase levels, prolonged jaundice and acute liver failure
are presented. The diagnosis was based on a combination of ȱȱȱǯȱȱȂȱȱ ȱȱǯȱ
clinical and biochemical findings. Early recognition and ȱ ȱ ¢ȱ ȱ ǯȱ ¢ȱ
management is important as effective treatment could reverse ¡ȱ ȱ ¢ȱ ȱ ȱ ȱ ȱ ȱ
the damage caused by copper toxicity. ȱ¡ȱȱȱ¢ǯȱȱȱ ȱ
ȱȱ ȱ ȱ ȱ ǻǁřǯśȱ ȦǼǰȱ ȱ ȱ ȱ
ȱ ȱ ȱ ȱ ȱ ȱ ȱ
ȱ ǯȱȱȱ
ȱ ȱ ǻǼȱ ȱ ȱ ȱ ȱ ȱ ȱ ¢ȱ ȱ ȱ ȱ ȱ ȱ ȱ ŗȦřŘŖǯȱ
ȱ ȱ ȱ ǰȱ ȱ ¢ȱ ȱ
¢ȱ ȱ ȱ ȱ ȱ ȱ ȱ
ȱȱȱȱǰȱȱȱȱȱ ȱ ¢ȱ ¢¢ȱ ȱ ȱ
¢ȱ ǯŗȱ ȱ ȱ ȱ ȱ ȱ ŗȱ ȱ řŖǰŖŖŖȱ ȱ ȱ ȱ ȱ ȱ ȱ ȱ ȱ ȱ ¢ȱ
ŗŖŖǰŖŖŖȱȱȱȱ¢ȱȱȱȱǯȱȱ ǰȱȱȱȱȱ ȱȱǯȱȱȱȱ
ȱ ȱȱȱȱȱ¢ȱȱȱȱ ȱ ȱ ȱ ȱ ȱ ȱ ȱ ȱ ȱ ȱ ȱ
ȱǰȱȱ ȱȱŘǰřȱ ȱȱŗŜȬ¢ȱȱ ȱ ȱ ǯȱ
ȱ ȱ ȱ Ȭȱ
ȱ ¢ǯřȱ ȱ ȱ ȱ ȱ ȱ ȱ ȱ ȱ ȱ ȱ £ȱ ȱ ȱ ȱ
ǰȱ ȱ ¢ȱ ȱ ȱ ȱ ȱ ȱ Ȭ ǯȱȱȱȱǰȱȱȱ ȱȱȱȱ
ȱ ȱ ŝŚȱ ȱ ȱ ȱ ȱ ȱ ȱ ȱ ǰȱ ȱ ȱ ȱ ȱ ǯȱȱ
ȱ ȱ ȱ Ȭ£ǯȱ ȱ ȱ ǰȱ ȱ ȱ ȱ ȱ ȱ ȱ ȱ ǀŖǯŖŘȱ Ȧȱ
ȱȱȱȱȱȱȱȱȱ¢ȱȱ ǻȱ ŖǯŘȬŖǯŜǼȱ ȱ ȱ ŘŚȬȱ ȱ ȱ ȱ ȱ
ȱȱȱ ȱȱȱȱȱȱ ŚřŞȱ ΐȦ¢ȱ ǻȱ ŗśȬŜŖǼǯȱ ȱ ȱ ȱ ȱ ¢ȱȱ ȱ
ȱ ȱ ȱ ¢ȱ ȱ ¢ȱ ȱ ȱ£ȱȱŘśȱȱ ȱȱ¢ǯȱȱȱȱǰȱ
ȱ ȱ ȱ ȱ ȱ ȱ ȱ ȱ ȱ ŘŚȬȱ ȱ ȱ ¡ȱ ȱ ȱ ȱ ȱ řřŚȱ
ǯśȱ ȱ ȱ ȱ ȱ ȱ £ȱ ȱ ȱ ¢ȱ ΐȦ¢ǯȱȱ ȱȱȱȱŘśȱȱř¡ȱȱ¢ȱȱ
ȱȱȱȱȱȱȱȱȱȱȱ ȱ ȱ ȱ £ȱ ȱ Ŝȱ ȱ ȱ
ȱȱȱǯȱȱȱ ȱ £ȱ ǯȱ ȱ ȱ ȱ ȱ ȱ ¢ǰȱ ȱ ŘŚȬ
ȱ ȱ ȱ ȱ ¢ǰȱ ȱ ȱ ȱ ȱ ȱ ȱȱȱȱȱȱ ȱȱȱŗŝȱȱ
ȱ ȱ ȱ ȱ ȱ ȱ ȱ ŜŜȱ ΐȦ¢ǯȱ
ȱ ȱ ¢ȱ ȱ ȱ ȱ şȬ¢ȱ ȱ ȱ
ǯȱ ȱ ȱ ȱ ȱ ȱ ȱ ȱ ȱ ȱ ȱ ǻDZȱ ŗŝǯŞDzȱ £ƽƸŗǼȱ ȱ ȱ ȱ ȱ ȱ ȱ
ȱȱȱȱȱȱȱȱȱȱ ǯȱȱȱȱȱŗŗȬ¢ȱȱȱ ȱȱ
ȱ ȱ ȱ ȱ ¢ȱ ȱ ȱ ȱ ȱȱȱȱȱǯȱ
ǯȱȱȱ¢ȱȱȱȱȱȱȱȱŗǯȱȱ ȱ Řǯȱ ȱ ȱ ȱ ŗŖȬ¢ȱ ȱ ȱ ¢ȱ ȱ ȱ ȱ
ȱ ȱ ȱ ¢ȱ ȱ ȱ ȱ ȱ ȱ ȱ
ȏȏȏȏȏȏȏȏȏȏȏȏȏȏȏȏȱ ȱ¢ȱřȱȱŝȱȱȱ¢ ȱ ¢ȱǯȱȱ
ȱ ¢ȱ ȱ ȱ ȱ ȱ ȱ ȱ ȱ ¢ȱ
ȱ ȱ ȱ Ȭȱ ǯȱ ¢ȱ ¡ȱ
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