Guidelines for diagnosis and treatment of Hunter Syndrome for clinicians in Latin America

Guidelines for diagnosis and treatment of Hunter Syndrome for clinicians in Latin America

Autor Giugliani, Roberto Google Scholar
Villarreal, Martha Luz Solano Google Scholar
Valdez, C. Araceli Arellano Google Scholar
Hawilou, Antonieta Mahfoud Google Scholar
Guelbert, Norberto Google Scholar
Garzón, Luz Norela Correa Google Scholar
Martins, Ana Maria Autor UNIFESP Google Scholar
Acosta, Angelina Google Scholar
Cabello, Juan Francisco Google Scholar
Lemes, Aída Google Scholar
Santos, Mara Lucia Schmitz Ferreira Google Scholar
Amartino, Hernán Google Scholar
Instituição Hospital de Clinicas de Porto Alegre Serviço de Génetica Médica
Universidade Federal do Rio Grande do Sul Departamento de Génetica
Instituto Nacional de Genética Médica Populacional
Asociación Colombiana de Neurología Infantil
Instituto Mexicano del Seguro Social
Instituto de Estudios Avanzados
Hospital de Niños
La Misericordia University Hospital
Universidade Federal de São Paulo (UNIFESP)
Universidade Federal de Bahia
Universidad de Chile Instituto de Nutrición y Tecnología de los Alimentos
Hospital Italiano Instituto de Genética Médica
Hospital Pequeno Príncipe Departamento de Neuropediatra
Hospital Universitario Austral
Resumo This review aims to provide clinicians in Latin America with the most current information on the clinical aspects, diagnosis, and management of Hunter syndrome, a serious and progressive disease for which specific treatment is available. Hunter syndrome is a genetic disorder where iduronate-2-sulfatase (I2S), an enzyme that degrades glycosaminoglycans, is absent or deficient. Clinical manifestations vary widely in severity and involve multiple organs and tissues. An attenuated and a severe phenotype are recognized depending on the degree of cognitive impairment. Early diagnosis is vital for disease management. Clinical signs common to children with Hunter syndrome include inguinal hernia, frequent ear and respiratory infections, facial dysmorphisms, macrocephaly, bone dysplasia, short stature, sleep apnea, and behavior problems. Diagnosis is based on screening urinary glycosaminoglycans and confirmation by measuring I2S activity and analyzing I2S gene mutations. Idursulfase (recombinant I2S) (Elaprase®, Shire) enzyme replacement therapy (ERT), designed to address the underlying enzyme deficiency, is approved treatment and improves walking capacity and respiratory function, and reduces spleen and liver size and urinary glycosaminoglycan levels. Additional measures, responding to the multi-organ manifestations, such as abdominal/inguinal hernia repair, carpal tunnel surgery, and cardiac valve replacement, should also be considered. Investigational treatment options such as intrathecal ERT are active areas of research, and bone marrow transplantation is in clinical practice. Communication among care providers, social workers, patients and families is essential to inform and guide their decisions, establish realistic expectations, and assess patients' responses.
Palavra-chave Hunter syndrome
lysosomal disease
iduronate-2-sulfatase
enzyme replacement therapy
treatment guidelines
Idioma Inglês
Data de publicação 2014-06-01
Publicado em Genetics and Molecular Biology. Sociedade Brasileira de Genética, v. 37, n. 2, p. 315-329, 2014.
ISSN 1415-4757 (Sherpa/Romeo, fator de impacto)
Publicador Sociedade Brasileira de Genética
Extensão 315-329
Fonte http://dx.doi.org/10.1590/S1415-47572014000300003
Direito de acesso Acesso aberto Open Access
Tipo Artigo
Web of Science WOS:000342562000003
SciELO S1415-47572014000300003 (estatísticas na SciELO)
Endereço permanente http://repositorio.unifesp.br/handle/11600/8408

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