Ulrike Reuner1, Juergen Dinger2. 1. Clinic of Neurology, Faculty of Medicine Carl Gustav Carus, Technical University of Dresden, Dresden, Germany. 2. Department of Neonatology and Paediatric Intensive Care, Faculty of Medicine Carl Gustav Carus, Technical University of Dresden, Dresden, Germany.
Abstract
BACKGROUND: Wilson disease is an autosomal recessive genetic disorder affecting copper transport leading to hepatic and/or neuropsychiatric manifestation. Untreated Wilson disease in females may cause sub fertility or spontaneous miscarriage. Although the literature shows an increasing number of successful outcomes after treatment, pregnant patients with Wilson disease still need close monitoring and interdisciplinary management. METHODS: In a retrospective study patient charts of 32 pregnancies in 22 women with Wilson disease were reviewed retrospectively for the initial clinical manifestation, medical treatment prior and during pregnancy, maternal and fetal course and outcome. RESULTS: A total of 32 pregnancies in 22 patients were analyzed. The majority of our patients did not have any deterioration of symptoms of Wilson disease prior to and during pregnancy. One pregnant patient decided to stop her anticopper medications while pregnant with fatal outcome for both, mother and foetus. None of our newborns showed major birth defects or side effects in this cohort after maternal chelation treatment. CONCLUSIONS: Reproductive status and pregnancies of women with Wilson disease may be problematic. Pregnant women need close monitoring and multidisciplinary management. Anticopper therapy during pregnancy and breast feeding are safe. Treatment should be maintained during pregnancy and the pregnant women should be treated by a multi-disciplinary team. With adequate medical treatment and close monitoring before and during pregnancy, a successful outcome of mother and newborn can be achieved.
BACKGROUND: Wilson disease is an autosomal recessive genetic disorder affecting copper transport leading to hepatic and/or neuropsychiatric manifestation. Untreated Wilson disease in females may cause sub fertility or spontaneous miscarriage. Although the literature shows an increasing number of successful outcomes after treatment, pregnant patients with Wilson disease still need close monitoring and interdisciplinary management. METHODS: In a retrospective study patient charts of 32 pregnancies in 22 women with Wilson disease were reviewed retrospectively for the initial clinical manifestation, medical treatment prior and during pregnancy, maternal and fetal course and outcome. RESULTS: A total of 32 pregnancies in 22 patients were analyzed. The majority of our patients did not have any deterioration of symptoms of Wilson disease prior to and during pregnancy. One pregnant patient decided to stop her anticopper medications while pregnant with fatal outcome for both, mother and foetus. None of our newborns showed major birth defects or side effects in this cohort after maternal chelation treatment. CONCLUSIONS: Reproductive status and pregnancies of women with Wilson disease may be problematic. Pregnant women need close monitoring and multidisciplinary management. Anticopper therapy during pregnancy and breast feeding are safe. Treatment should be maintained during pregnancy and the pregnant women should be treated by a multi-disciplinary team. With adequate medical treatment and close monitoring before and during pregnancy, a successful outcome of mother and newborn can be achieved.
Entities:
Keywords:
Wilson disease; infant; maternal and foetal outcome; pregnancy
Authors: Marta Ruiz-Lopez; Ana Moreno Estébanez; Beatriz Tijero; Tamara Fernandez; Alba Rebollo-Perez; Iñigo Gabilondo; Nuria Lopez-Osle; Leticia Ceberio-Hualde; Juan Jose Zarranz; Juan Carlos Gomez-Esteban Journal: Neurology Date: 2022-06-13 Impact factor: 11.800