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1.
Consenso Colombiano para la prevención, diagnóstico y manejo de condiciones trombóticas en pacientes adultos con COVID-19: aplicando el Marco de la Evidencia a la Decisión (EtD) GRADE
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Acevedo-Peña, Juan
; Yomayusa-González, Nancy
; Cantor-Cruz, Francy
; Pinzon-Florez, Carlos
; Barrero-Garzón, Liliana
; De-La-Hoz-Siegler, Ilich
; Low-Padilla, Eduardo
; Ramírez-Ceron, Carlos
; Combariza-Vallejo, Felipe
; Arias-Barrera, Carlos
; Moreno-Cortés, Javier
; Rozo-Vanstrahlen, José
; Correa-Pérez, Liliana
; Rojas-Gambasica, José
; González-González, Camilo
; La-Rotta-Caballero, Eduardo
; Ruíz-Talero, Paula
; Contreras-Páez, Rubén
; Lineros-Montañez, Alberto
; Ordoñez-Cardales, Jorge
; Escobar-Olaya, Mario
; Izaguirre-Ávila, Raúl
; Campos-Guerra, Joao
; Accini-Mendoza, José
; Pizarro-Gómez, Camilo
; Patiño-Pérez, Adulkarín
; Flores-Rodríguez, Janine
; Valencia-Moreno, Albert
; Londoño-Villegas, Alejandro
; Saavedra-Rodríguez, Alfredo
; Madera-Rojas, Ana
; Caballero-Arteaga, Andrés
; Díaz-Campos, Andrés
; Correa-Rivera, Felipe
; Mantilla-Reinaud, Andrés
; Becerra-Torres, Ángela
; Peña-Castellanos, Ángela
; Reina-Soler, Aura
; Escobar-Suarez, Bibiana
; Patiño-Escobar, Bonell
; Rodríguez-Cortés, Camilo
; Rebolledo-Maldonado, Carlos
; Ocampo-Botero, Carlos
; Rivera-Ordoñez, Carlos
; Saavedra-Trujillo, Carlos
; Figueroa-Restrepo, Catalina
; Agudelo-López, Claudia
; Jaramillo-Villegas, Claudia
; Villaquirán-Torres, Claudio
; Rodríguez-Ariza, Daniel
; Rincón-Valenzuela, David
; Lemus-Rojas, Melissa
; Pinto-Pinzón, Diego
; Garzón-Díaz, Diego
; Cubillos-Apolinar, Diego
; Beltrán-Linares, Edgar
; Kondo-Rodríguez, Emilio
; Yama-Mosquera, Erica
; Polania-Fierro, Ernesto
; Real-Urbina, Evalo
; Rosas-Romero, Andrés
; Mendoza-Beltrán, Fernán
; Guevara-Pulido, Fredy
; Celia-Márquez, Gina
; Ramos-Ramos, Gloria
; Prada-Martínez, Gonzalo
; León-Basantes, Guillermo
; Liévano-Sánchez, Guillermo
; Ortíz-Ruíz, Guillermo
; Barreto-García, Gustavo
; Ibagón-Nieto, Harold
; Idrobo-Quintero, Henry
; Martínez-Ramírez, Ingrid
; Solarte-Rodríguez, Ivan
; Quintero-Barrios, Jorge
; Arenas-Gamboa, Jaime
; Pérez-Cely, Jairo
; Castellanos-Parada, Jeffrey
; Garzón-Martínez, Fredy
; Luna-Ríos, Joaquín
; Lara-Terán, Joffre
; Vargas-Fodríguez, Johanna
; Dueñas-Villamil, Rubén
; Bohórquez-Feyes, Vicente
; Martínez-Acosta, Carlos
; Gómez-Mesa, Esteban
; Gaitán-Rozo, Julián
; Cortes-Colorado, Julián
; Coral-Casas, Juliana
; Horlandy-Gómez, Laura
; Bautista-Toloza, Leonardo
; Palacios Palacios, Leonardo
; Fajardo-Latorre, Lina
; Pino-Villarreal, Luis
; Rojas-Puentes, Leonardo
; Rodríguez-Sánchez, Patricia
; Herrera-Méndez, Mauricio
; Orozco-Levi, Mauricio
; Sosa-Briceño, Mónica
; Moreno-Ruíz, Nelson
; Sáenz-Morales, Oscar
; Amaya-González, Pablo
; Ramírez-García, Sergio
; Nieto-Estrada, Víctor
; Carballo-Zárate, Virgil
; Abello-Polo, Virginia
.
resumen está disponible en el texto completo
Abstract Recent studies have reported the occurrence of thrombotic phenomena or coagulopathy in patients with COVID-19. There are divergent positions regarding the prevention, diagnosis, and treatment of these phenomena, and current clinical practice is based solely on deductions by extension from retrospective studies, case series, observational studies, and international guidelines developed prior to the pandemic. In this context, the aim was to generate a group of recommendations on the prevention, diagnosis and management of thrombotic complications associated with COVID-19. Methods: A rapid guidance was carried out applying the GRADE Evidence to Decision (EtD) frameworks and an iterative participation system, with statistical and qualitative analysis. Results: 31 clinical recommendations were generated focused on: a) Coagulation tests in symptomatic adults with suspected infection or confirmed SARS CoV-2 infection; b) Thromboprophylaxis in adults diagnosed with COVID-19 (Risk scales, thromboprophylaxis for outpatient, in-hospital management, and duration of thromboprophylaxis after discharge from hospitalization), c) Diagnosis and treatment of thrombotic complications, and d) Management of people with previous indication of anticoagulant agents. Conclusions: Recommendations of this consensus guide clinical decision-making regarding the prevention, diagnosis, and treatment of thrombotic phenomena in patients with COVID-19, and represent an agreement that will help decrease the dispersion in clinical practices according to the challenge imposed by the pandemic.
https://doi.org/10.36104/amc.2021.2078
253 downloads
2.
Consenso colombiano para la prevención, el diagnóstico y el tratamiento de condiciones trombóticas en adultos con COVID-19: aplicando el Marco de la Evidencia a la Decisión (EtD) GRADE
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Acevedo-Peña, Juan
; Yomayusa-González, Nancy
; Cantor-Cruz, Francy
; Pinzón-Flórez, Carlos
; Barrero-Garzón, Liliana
; De-La-Hoz-Siegler, Ilich
; Low-Padilla, Eduardo
; Ramírez-Cerón, Carlos
; Combariza-Vallejo, Felipe
; Arias-Barrera, Carlos
; Moreno-Cortés, Javier
; Rozo-Vanstrahlen, José
; Correa-Pérez, Liliana
; Rojas-Gambasica, José
; González-González, Camilo
; La-Rotta-Caballero, Eduardo
; Ruíz-Talero, Paula
; Contreras-Páez, Rubén
; Lineros-Montañez, Alberto
; Ordoñez-Cardales, Jorge
; Escobar-Olaya, Mario
; Izaguirre-Ávila, Raúl
; Campos-Guerra, Joao
; Accini-Mendoza, José
; Pizarro-Gómez, Camilo
; Patiño-Pérez, Adulkarín
; Flores-Rodríguez, Janine
; Valencia-Moreno, Albert
; Londoño-Villegas, Alejandro
; Saavedra-Rodríguez, Alfredo
; Madera-Rojas, Ana
; Caballero-Arteagam, Andrés
; Díaz-Campos, Andrés
; Correa-Rivera, Felipe
; Mantilla-Reinaud, Andrés
; Becerra-Torres, Ángela
; Peña-Castellanos, Ángela
; Reina-Soler, Aura
; Escobar-Suarez, Bibiana
; Patiño-Escobar, Bonell
; Rodríguez-Cortés, Camilo
; Rebolledo-Maldonado, Carlos
; Ocampo-Botero, Carlos
; Rivera-Ordoñez, Carlos
; Saavedra-Trujillo, Carlos
; Figueroa-Restrepo, Catalina
; Agudelo-López, Claudia
; Jaramillo-Villegas, Claudia
; Villaquirán-Torres, Claudio
; Rodríguez-Ariza, Daniel
; Rincón-Valenzuela, David
; Lemus-Rojas, Melissa
; Pinto-Pinzón, Diego
; Garzón-Díaz, Diego
; Cubillos-Apolinar, Diego
; Beltrán-Linares, Edgar
; Kondo-Rodríguez, Emilio
; Yama-Mosquera, Erica
; Polania-Fierro, Ernesto
; Real-Urbina, Evalo
; Rosas-Romero, Andrés
; Mendoza-Beltrán, Fernán
; Guevara-Pulido, Fredy
; Celia-Márquez, Gina
; Ramos-Ramos, Gloria
; Prada-Martínez, Gonzalo
; León-Basantes, Guillermo
; Liévano-Sánchez, Guillermo
; Ortíz-Ruíz, Guillermo
; Barreto-García, Gustavo
; Ibagón-Nieto, Harold
; Idrobo-Quintero, Henry
; Martínez-Ramírez, Ingrid
; Solarte-Rodríguez, Ivan
; Quintero-Barrios, Jorge
; Arenas-Gamboa, Jaime
; Pérez-Cely, Jairo
; Castellanos-Parada, Jeffrey
; Garzón-Martínez, Fredy
; Luna-Ríos, Joaquín
; Lara-Terán, Joffre
; Vargas-Rodríguez, Johanna
; Dueñas-Villamil, Rubén
; Bohórquez-Reyes, Vicente
; Martínez-Acosta, Carlos
; Gómez-Mesa, Esteban
; Gaitán-Rozo, Julián
; Cortes-Colorado, Julián
; Coral-Casas, Juliana
; Horlandy-Gómez, Laura
; Bautista-Toloza, Leonardo
; Palacios, Leonardo Palacios
; Fajardo-Latorre, Lina
; Pino-Villarreal, Luis
; Rojas-Puentes, Leonardo
; Rodríguez-Sánchez, Patricia
; Herrera-Méndez, Mauricio
; Orozco-Levi, Mauricio
; Sosa-Briceño, Mónica
; Moreno-Ruíz, Nelson
; Sáenz-Morales, Oscar
; Amaya-González, Pablo
; Ramírez-García, Sergio
; Nieto-Estrada, Víctor
; Carballo-Zárate, Virgil
; Abello-Polo, Virginia
.
resumen está disponible en el texto completo
Abstract Introduction: recent studies have reported the occurrence of thrombotic phenomena or coagulopathy in patients with COVID-19. There are divergent positions regarding the prevention, diagnosis, and treatment of these phenomena, and current clinical practice is based solely on deductions by extension from retrospective studies, case series, observational studies, and international guidelines developed prior to the pandemic. Objective: to generate a group of recommendations on the prevention, diagnosis and management of thrombotic complications associated with COVID-19. Methods: a rapid guidance was carried out applying the GRADE Evidence to Decision (EtD) frameworks and an iterative participation system, with statistical and qualitative analysis. Results: 31 clinical recommendations were generated focused on: a) Coagulation tests in symptomatic adults with suspected infection or confirmed SARS CoV-2 infection; b) Thromboprophylaxis in adults diagnosed with COVID-19 (Risk scales, thromboprophylaxis for outpatient, in-hospital management, and duration of thromboprophylaxis after discharge from hospitalization), c) Diagnosis and treatment of thrombotic complications, and d) Management of people with previous indication of anticoagulant agents. Conclusions: recommendations of this consensus guide clinical decision-making regarding the prevention, diagnosis, and treatment of thrombotic phenomena in patients with COVID-19, and represent an agreement that will help decrease the dispersion in clinical practices according to the challenge imposed by the pandemic.
https://doi.org/10.1016/j.rccar.2020.08.003
86 downloads
3.
Propuesta de un modelo de gestión de medicamentos en indicaciones no registradas en Colombia
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Vanegas, Egdda Patricia
; Acosta, Ángela Patricia
; González, Claudia Patricia Vaca
; Gutiérrez, José Julián López
; Pineda, Laura Angélica
; Guzmán, Javier Humberto
; Gaviria, Alejandro
; Ruiz, Fernando
.
ABSTRACT The use of drugs for unregistered indications, known as “off-label” use, is a practice that creates problems of rational use and access when other options are not available. Health systems should address this situation, particularly in connection with decisions concerning coverage, while trying to minimize health risks and clearly define the roles and responsibilities of the parties involved. Colombia's Ministry of Health and Social Protection (MinSalud), together with the National University of Colombia and national experts, developed a proposal for a model for managing drugs being used for unregistered indications (off-label) and their potential reimbursement with public resources, taking into account international practices and country characteristics. The management model is non-punitive and is geared toward promoting the rational use of these drugs so that barriers to access are reduced whenever their use is supported by solid scientific evidence. The model addresses patient safeguards in the bioethical domain and the roles and responsibilities of the prescriber and government entities.
RESUMEN El uso de medicamentos en indicaciones no registradas (INR), conocido como uso “off-label”, es una práctica que genera problemas de uso racional y de acceso cuando no existen alternativas disponibles. Los sistemas de salud deben gestionar esta realidad, sobre todo cuando se trata de decisiones de cobertura, buscando minimizar los riesgos para la salud y estableciendo de forma clara los papeles y las responsabilidades de los agentes involucrados. El Ministerio de Salud y Protección Social de Colombia (MinSalud), junto con con la Universidad Nacional de Colombia y expertos nacionales, diseñaron una propuesta de modelo de gestión del uso de medicamentos en indicaciones no registradas (off-label) y su potencial reembolso con recursos públicos, teniendo en cuenta prácticas internacionales y la realidad nacional. El modelo de gestión es no punitivo y está orientado a la promoción del uso racional de estos medicamentos, de forma que se reduzcan las barreras al acceso cuando su uso está respaldado por pruebas cientificas de calidad. El modelo incorpora elementos de garantías bioéticas del paciente, los papeles y las responsabilidades del prescriptor y de las entidades de gobierno.
443 downloads
4.
Cáncer de cuello uterino: Consenso nacional para el diagnóstico y tratamiento 2010
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Medina E, Francisco
; Sánchez-Lander, Jorge
; Calderaro, Franco
; Borges, Alfredo
; Rennola, Antonieta
; Bermúdez, Cecilia
; García de Barriola, Victoria
; Ruiz, Ángela
; Naranjo de Gómez, Miriam
; Reigosa, Aldo
; López Loyo, Enrique
; Guillén, Nelson
; Vásquez, Jesús
; Di Giampietro, Loretta
; López, Nora
; Bolívar, Luisa
; Briceño, Wilmar
; Acosta Garnier, Humberto
; Blanch, Ricardo
; González, Claudia
; Ávila, Maira
; González Blanco, Mireya
; Oberto, José
; Díaz Bruzual, Alfredo
; Vici, Gastón
; Manzo, Aisa
; Fernández, Luis
; Peña, Orlando
; Moreira, Erick
; Rezic, Marko
; Castillo Romero, Jorge A
; Lion, Lorena
; Barbosa, Doris
; Aguilera, María
; Capote Negrín, Luis
; Pérez, Ángel
; Lugo, José Ángel
; Rodríguez, Ivo
; Anzola, Félix
; Vento, Giovanni
; Fuentes, María Belén
; Nass, Ingrid
; Benítez, María Mercedes
; Agüero, Belkys
; Medina, Ivonne
; Palacios, Priscila
; Umbria, Carmen
; Rebolledo, Morella
; Chacón, Marco
; Bonilla, Patricia
; Montañez, Ángela
; García, María Belén
; Vázquez, Belkis
; Márquez, Ralyma
; Hernández, Yoly
; Pérez Rivas, Janett
; Lozada, Marnie
; Melet, Argelia
.
8478 downloads
5.
Identificación empírica de subtipos clínicos de esquizofrenia
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García Valencia, Jenny
; Rodríguez Betancur, Ángela Patricia
; Arbeláez Montoya, María Patricia
; Palacio Acosta, Carlos Alberto
; Gaviria Ospina, Manuela
; Ospina Duque, Jorge
.
Objetivos: Identificar empíricamente subtipos de esquizofrenia con base en síntomas presentados a lo largo del trastorno y determinar si existen entre éstos diferencias en características sociodemográficas y clínicas. Métodos: Se obtuvo información clínica de 217 sujetos con esquizofrenia aplicando la Entrevista Diagnóstica para Estudios Genéticos (DIGS). Los ejes de síntomas clínicos de esquizofrenia se identificaron usando análisis de correspondencias múltiples y con base en éstos se hizo una clasificación jerárquica, para determinar los subtipos de individuos con esquizofrenia. Resultados: Se obtuvo una solución de tres ejes de síntomas clínicos: (1) delirios y alucinaciones, (2) catatónico y (3) síntomas desorganizados y negativos. Con base en éstos, se identificaron cinco subtipos: paranoide sin vivencias de influencia, desorganizado puro, catatónico, desorganizado con alucinaciones y delirios y paranoide con vivencias de influencia. Al comparar con el subtipo 1: el 2 presentó con mayor frecuencia un inicio temprano del trastorno (OR: 2,64; IC95%: 1,00-6,96) y deterioro grave (OR: 4,12; IC95%: 1,73-9,79); el 3 tenía menos comorbilidad con trastorno por uso de sustancias (OR: 0,12; IC95%: 0,01-1,00); y el 4 evidenció un mayor número de sujetos con curso continuo (OR: 4,40; IC95%: 1,8410,52) y deterioro grave (OR: 5,34; IC95%: 2,15-13,27). No había diferencias significativas entre los subtipos 1 y 5. Conclusión: Se obtuvieron empíricamente cinco subtipos clínicos de esquizofrenia similares a descripciones previas y que tienen diferencias en el curso del trastorno y comorbilidad.
Objectives: To empirically identify subtypes of schizophrenia based on symptoms recorded during the duration of the disorder, and to determine demographic and clinical differences among subtypes. Methods: Clinical information was obtained from 217 subjects with schizophrenia by the Diagnostic Interview for Genetic Studies (DIGS). The axes of symptoms were identified using Multiple Correspondence Analysis. Based on these axes, subtypes of individuals with schizophrenia were determined by hierarchical classification analysis. Results: A solution of three axes of symptoms was obtained: (1) hallucinations and delusions, (2) catatonic, and (3) negative and disorganized symptoms. Based on these axes, i ve subtypes were identified: Paranoid without influence experiences, disorganized, catatonic, disorganized with hallucinations and delusions, and paranoid with influence experiences. When compared with Subtype 1, Subtype 2 had a higher frequency of early onset (OR: 2.64; 95CI%: 1.00-6.96) and severe impairment (OR: 4.12; 95CI%: 1.73-9.79); Subtype 3 had a lower frequency of substance use disorders (OR: 0.12; 95CI%: 0.01-1.00); Subtype 4 had a higher number of subjects with a continuous course of the disorder (OR: 4.40; 95CI%: 1.84-10.52) and severe impairment (OR: 5.34; 95CI%: 2.15-13.27). There were not any differences between Subtypes 1 and 5. Conclusion: Five subtypes of schizophrenia were obtained which are similar to previous descriptions. The subtypes have differences in course and comorbidity.
2429 downloads
6.
Mucopolysaccharidosis I, II, and VI: brief review and guidelines for treatment
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Giugliani, Roberto
; Federhen, Andressa
; Muñoz Rojas, Maria Verônica
; Vieira, Taiane
; Artigalás, Osvaldo
; Lapagesse Pinto, Louise
; Azevedo, Ana Cecília
; Acosta, Angelina
; Bonfim, Carmen
; Lourenço, Charles Marques
; Chong Ae, Kim
; Horovitz, Dafne
; Bonfim, Denize
; Norato, Denise
; Marinho, Diane
; Palhares, Durval
; Santos, Emerson Santana
; Ribeiro, Erlane
; Valadares, Eugênia
; Guarany, Fábio
; Lucca, Gisele Rosone de
; Pimentel, Helena
; Souza, Isabel Neves de
; Correa Neto, Jordão
; Fraga, José Carlos
; Goes, José Eduardo
; Cabral, José Maria
; Simionato, José
; Llerena Jr., Juan
; Jardim, Laura
; Giuliani, Liane
; Silva, Luiz Carlos Santana da
; Santos, Mara L.
; Moreira, Maria Angela
; Kerstenetzky, Marcelo
; Ribeiro, Márcia
; Ruas, Nicole
; Barrios, Patricia
; Aranda, Paulo
; Honjo, Rachel
; Boy, Raquel
; Costa, Ronaldo
; Souza, Carolina
; Alcantara, Flavio F.
; Avilla, Silvio Gilberto A.
; Fagondes, Simone
; Martins, Ana Maria
.
Mucopolysaccharidoses (MPS) are rare genetic diseases caused by the deficiency of one of the lysosomal enzymes involved in the glycosaminoglycan (GAG) breakdown pathway. This metabolic block leads to the accumulation of GAG in various organs and tissues of the affected patients, resulting in a multisystemic clinical picture, sometimes including cognitive impairment. Until the beginning of the XXI century, treatment was mainly supportive. Bone marrow transplantation improved the natural course of the disease in some types of MPS, but the morbidity and mortality restricted its use to selected cases. The identification of the genes involved, the new molecular biology tools and the availability of animal models made it possible to develop specific enzyme replacement therapies (ERT) for these diseases. At present, a great number of Brazilian medical centers from all regions of the country have experience with ERT for MPS I, II, and VI, acquired not only through patient treatment but also in clinical trials. Taking the three types of MPS together, over 200 patients have been treated with ERT in our country. This document summarizes the experience of the professionals involved, along with the data available in the international literature, bringing together and harmonizing the information available on the management of these severe and progressive diseases, thus disclosing new prospects for Brazilian patients affected by these conditions.
8605 downloads
Cited 6 times in SciELO
7.
Terapia de reposição enzimática para as mucopolissacaridoses I, II e VI: recomendações de um grupo de especialistas brasileiros
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Giugliani, Roberto
; Federhen, Andressa
; Muñoz Rojas, Maria Verónica
; Vieira, Taiane Alves
; Artigalás, Osvaldo
; Pinto, Louise Lapagesse Carmargo
; Azevedo, Ana Cecília
; Acosta, Angelina Xavier
; Bomfim, Carmem
; Lourenço, Charles Marques
; Kim, Chong Ae
; Horovitz, Dafne
; Souza, Denize Bomfim
; Norato, Denise
; Marinho, Diane
; Palhares, Durval
; Santos, Emerson Santana
; Ribeiro, Erlane
; Valadares, Eugênia Ribeiro
; Guarany, Fábio
; De Lucca, Gisele Rosone
; Pimentel, Helena
; Souza, Isabel Neves de
; Corrêa Neto, Jordão
; Fraga, José Carlos
; Góes, José Eduardo
; Cabral, José Maria
; Simeonato, José
; Llerena Jr, Juan Clinton
; Jardim, Laura Bannach
; Giuliani, Liane de Rosso
; Silva, Luiz Carlos Santana da
; Santos, Mara
; Moreira, Maria Ângela
; Kerstenetzky, Marcelo
; Ribeiro, Márcia
; Ruas, Nicole
; Barrios, Patricia
; Aranda, Paulo
; Honjo, Rachel
; Boy, Raquel
; Costa, Ronaldo
; Souza, Carolina Fishinger Moura de
; Alcântara, Flavio F
; Avilla, Sylvio Gilberto A
; Fagondes, Simone
; Martins, Ana Maria
.
As mucopolissacaridoses (MPS) são doenças genéticas raras causadas pela deficiência de enzimas lisossômicas específicas que afetam o catabolismo de glicosaminoglicanos (GAG). O acúmulo de GAG em vários órgãos e tecidos nos pacientes afetados pelas MPS resulta em uma série de sinais e sintomas, integrantes de um quadro clínico multissistêmico que compromete ossos e articulações, vias respiratórias, sistema cardiovascular e muitos outros órgãos e tecidos, incluindo, em alguns casos, as funções cognitivas. Já foram identificados 11 defeitos enzimáticos que causam sete tipos diferentes de MPS. Antes do advento de terapias dirigidas para a restauração da atividade da enzima deficiente, o tratamento das MPS tinha como principal foco a prevenção e o cuidado das complicações, aspecto ainda bastante importante no manejo desses pacientes. Na década de 80 foi proposto o tratamento das MPS com transplante de medula óssea/transplante de células tronco hematopoiéticas (TMO/TCTH) e na década de 90 começou o desenvolvimento da Terapia de Reposição Enzimática (TRE), que se tornou uma realidade aprovada para uso clínico nas MPS I, II e VI na primeira década do século 21. Os autores deste trabalho têm a convicção de que um melhor futuro para os pacientes afetados pelas MPS depende da identificação, compreensão e manejo adequado das manifestações multissistêmicas dessas doenças, incluindo medidas de suporte (que devem fazer parte da assistência multidisciplinar regular destes pacientes) e terapias específicas. Embora a inibição da síntese de GAG e o resgate da atividade enzimática com moléculas pequenas também possam vir a ter um papel no manejo das MPS, o grande avanço disponível no momento é a TRE intravenosa. A TRE permitiu modificar radicalmente o panorama do tratamento das mucopolissacaridoses I, II e VI na última década, sendo que ainda pode estender seus benefícios em breve para a MPS IV A (cuja TRE já está em desenvolvimento clínico), com perspectivas para o tratamento da MPS III A e do déficit cognitivo na MPS II através de administração da enzima diretamente no sistema nervoso central (SNC). Um grande número de centros brasileiros, incluindo serviços de todas as regiões do país, já têm experiência com TRE para MPS I, II e VI. Essa experiência foi adquirida não só com o tratamento de pacientes como também com a participação de alguns grupos em ensaios clínicos envolvendo TRE para essas condições. Somados os três tipos de MPS, mais de 250 pacientes já foram tratados com TRE em nosso país. A experiência dos profissionais brasileiros, somada aos dados disponíveis na literatura internacional, permitiu elaborar este documento, produzido com o objetivo de reunir e harmonizar as informações disponíveis sobre o tratamento destas doenças graves e progressivas, mas que, felizmente, são hoje tratáveis, uma realidade que traz novas perspectivas para os pacientes brasileiros afetados por essas condições.
Mucopolysaccharidoses (MPS) are rare genetic diseases caused by deficiency of specific lysosomal enzymes that affect catabolism of glycosaminoglycans (GAG). Accumulation of GAG in various organs and tissues in MPS patients results in a series of signs and symptoms, producing a multisystemic condition affecting bones and joints, the respiratory and cardiovascular systems and many other organs and tissues, including in some cases, cognitive performance. So far, eleven enzyme defects that cause seven different types of MPS have been identified. Before introduction of therapies to restore deficient enzyme activity, treatment of MPS focused primnarily on prevention and care of complications, still a very important aspect in the management of these patients. In the 80's treatment of MPS with bone marrow transplantation/hematopoietic stem cells transplantation (BMT/HSCT) was proposed and in the 90's, enzyme replacement therapy (ERT),began to be developed and was approved for clinical use in MPS I, II and VI in the first decade of the 21st century. The authors of this paper are convinced that a better future for patients affected by mucopolysaccharidoses depends upon identifying, understanding and appropriately managing the multisystemic manifestations of these diseases. This includes the provision of support measures (which should be part of regular multidisciplinary care of these patients) and of specific therapies. Although inhibition of synthesis of GAG and the recovery of enzyme activity with small molecules also may play a role in the management of MPS, the breakthrough is the currently available intravenous ERT. ERT radically changed the setting for treatment of mucopolysaccharidosis I, II and VI in the last decade., Benefits can even be extended soon to MPS IV A (ERT for this condition is already in clinical development), with prediction for treatment of MPS III A and the cognitive deficit in MPS II by administration of the enzyme directly into the central nervous system (CNS). A large number of Brazilian services, from all regions of the country, already have experience with ERT for MPS I, II and VI. This experience was gained not only by treating patients but also with the participation of some groups in clinical trials involving ERT for these conditions. Summing up the three types of MPS, more than 250 patients have already been treated with ERT in Brazil. The experience of professionals coupled to the data available in international literature, allowed us to elaborate this document, produced with the goal of bringing together and harmonize the information available for the treatment of these severe and progressive diseases, which, fortunately, are now treatable, a situation which bring new perspectives for Brazilian patients, affected by these conditions.
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