Muscle & nerve · 2011
Consensus treatment recommendations for late-onset Pompe disease.
Историческая статьяСтатьяПоддержка исследования: вне правительства СШАСистематический обзорConsensus StatementНазвание и аннотация: Перевод пока не подготовлен
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Cupler Edward J, Berger Kenneth I, Leshner Robert T, Wolfe Gil I, Han Jay J, Barohn Richard J, Kissel John T, AANEM Consensus Committee on Late-onset Pompe Disease
Аннотация
INTRODUCTION: Pompe disease is a rare, autosomal recessive disorder caused by deficiency of the glycogen-degrading lysosomal enzyme acid alpha-glucosidase. Late-onset Pompe disease is a multisystem condition, with a heterogeneous clinical presentation that mimics other neuromuscular disorders.
METHODS: Objective is to propose consensus-based treatment and management recommendations for late-onset Pompe disease.
METHODS: A systematic review of the literature by a panel of specialists with expertise in Pompe disease was undertaken.
CONCLUSIONS: A multidisciplinary team should be involved to properly treat the pulmonary, neuromuscular, orthopedic, and gastrointestinal elements of late-onset Pompe disease. Presymptomatic patients with subtle objective signs of Pompe disease (and patients symptomatic at diagnosis) should begin treatment with enzyme replacement therapy (ERT) immediately; presymptomatic patients without symptoms or signs should be observed without use of ERT. After 1 year of ERT, patients' condition should be reevaluated to determine whether ERT should be continued.
METHODS: Objective is to propose consensus-based treatment and management recommendations for late-onset Pompe disease.
METHODS: A systematic review of the literature by a panel of specialists with expertise in Pompe disease was undertaken.
CONCLUSIONS: A multidisciplinary team should be involved to properly treat the pulmonary, neuromuscular, orthopedic, and gastrointestinal elements of late-onset Pompe disease. Presymptomatic patients with subtle objective signs of Pompe disease (and patients symptomatic at diagnosis) should begin treatment with enzyme replacement therapy (ERT) immediately; presymptomatic patients without symptoms or signs should be observed without use of ERT. After 1 year of ERT, patients' condition should be reevaluated to determine whether ERT should be continued.