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Clinical and Technological Dependence Characteristics on a Series of Brazilian Cases with Infantile Onset Pompe Disease in Enzyme Replacement Therapy

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Open Journal of Clinical Diagnostics 2019年第1期9卷 16-32页

作者： Paula De Almeida Thomazinho Eliana Pelissari Regina Celia Beltrao Duarte Carolina Fishinger Moura De Souza Heloise Helena Siqueira Borges Maria Da Gloria Cruvinel Horta Liane De Rosso Giuliani Ana Maria Martins Lilian Stewart Dafne Dain Gandelman Horovitz Juan Clinton Llerena Motor Physical Therapy Unit Fernandes Figueira National Institute/FIOCRUZRio de JaneiroBrazil Clinical Medical Unit Dr.Jeser Amarante Faria Children’s HospitalJoinvilleBrazil Pediatric Neurology Unit Santa Casa de Misericordia do Para FoundationBelemBrazil Sciences Medical Genetics Unit Service of Information on Inborn Errors of MetabolismHospital de Clínicas de Porto AlegrePorto AlegreBrazil Clinical Medical Unit University of Cuiaba UNICCuiabaBrazil Santa Casa de Belo Horizonte Belo HorizonteBrazil Genetics Unit Federal University of Mato Grosso do SulCampo GrandeBrazil Inborn Errors of Metabolism and Genetics Unit Federal University of São PauloUNIFESPSão PauloBrazil Pediatric Intensive Care Unit State Institute of Cardiology of Rio de JaneiroIECACRio de JaneiroBrazil 1 Medical Genetics Unit Fernandes Figueira National Institute of WomenChildren and Adolescent Health/FIOCRUZRio de JaneiroBrasil

Pompe disease (PD) is a rare inborn error of metabolism due to an abnormal acid alpha-glucosidase (GAA) activity that comprises glycogen breakdown mainly in the lysosomes. Since the introduction of enzyme replacement therapy (ERT), with recombinant human GAA for the early onset PD patient, a relevant field of clinical research due to the benefits regarding survival rate has been widely documented worldwide. Objective: To describe the clinical characteristics and the ERT effects in a series of Brazilian patients with infantile onset PD (IOPD) under ERT. Methods: Brazilian patients diagnosed with IOPD under ERT were recruited through their physicians participating in the International Pompe Disease Registry from 2009 to 2017. Data were collected by an online survey. Results: 10 IOPD patients were identified through the survey with a death rate of 30% and technology dependency rate reported as 80% (motor, respiratory or nutritional fields) of the patients. After the third year of ERT, motor disabilities were lost in 50% of ambulated patients. The overall characteristics were similar to international studies. Conclusion: Despite ERT benefits in cardiac involvement, motor disabilities seem to be much more compromised in IOPD patients, with high technology dependence, especially after three years of age.

关键词： Motor Development child disability Glycogen Storage Disease Type II Enzyme Replacement Therapy

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