Abstract

CASTRO, Maria Geraldina; SOUSA, Rita; MARTA, Susana  and  BRAGA, Jorge. Pregnancy and Wilson Disease. Arq Med [online]. 2009, vol.23, n.4, pp.151-157. ISSN 2183-2447.

Wilson disease is an autosomal recessive inherited disorder, with an affected gene (ATP7B) located at chromosome 13. It has been shown to affect the copper transport leading to a hepatic accumulation and deposition in other organs, specially brains, kidneys and cornea. The worldwide prevalence of Wilson's disease is around 30 per million. Around 60-70% of all cases are diagnosed between the ages of 8 to 20 years old. Clinically the condition may present with hepatic, neurologic or psychiatric disease. The diagnosis is based on a high level of suspicion and on the combination of both clinical and laboratorial findings. The gold standard exam for Wilson's disease diagnosis is the liver biopsy with determination of hepatic copper levels. The treatment is lifelong pharmacological therapy or hepatic transplant. Currently there are three available drugs, penicillamine and trientine (chelating agents), and zinc. Tetrathiomolybdate is another chelating agent still under evaluation. The reproductive ability of women with Wilson disease has improved with the increasing efficiency of these therapies, and therefore pregnancy is becoming more common. It does not seem that the course of the disease is affected by pregnancy, but the problem remains on what is the most adequate therapy during gestation, as the safety of these drugs can not be assured during this period. The authors describe 3 cases of Wilson disease and pregnancy, followed at their centre and discuss the controversy around the use of these drugs for the treatment of the disease during pregnancy and lactation.

Keywords : Wilson disease; pregnancy; hepatic dysfunction; trientine; penicillamine; zinc.

        · abstract in Portuguese     · text in Portuguese     · Portuguese ( pdf )