title: Guidelines for diagnosis and treatment of Hunter Syndrome for clinicians in Latin America.
abstract: 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.
authors: Serviço de Génetica Médica , Hospital de Clinicas de Porto Alegre , Porto Alegre, RS , Brazil . ; Departamento de Génetica , Universidade Federal do Rio Grande do Sul , Porto Alegre, RS , Brasil . ; Instituto Nacional de Genética Médica Populacional , Porto Alegre, RS , Brazil .
authors: Roberto
authors: R
authors: Giugliani
authors: Asociación Colombiana de Neurología Infantil , Bogotá , Colombia .
authors: Martha Luz Solano
authors: ML
authors: Villarreal
authors: Instituto Mexicano del Seguro Social , Guadalajara , Mexico .
authors: C Araceli Arellano
authors: CA
authors: Valdez
authors: Instituto de Estudios Avanzados , Caracas , Venezuela .
authors: Antonieta Mahfoud
authors: AM
authors: Hawilou
authors: Hospital de Niños , Córdoba , Argentina .
authors: Norberto
authors: N
authors: Guelbert
authors: La Misericordia University Hospital , Bogotá , Colombia .
authors: Luz Norela Correa
authors: LN
authors: Garzón
authors: Centro de Referência em Erros Inatos do Metabolismo , Universidade Federal de São Paulo , São Paulo, SP , Brazil .
authors: Ana Maria
authors: AM
authors: Martins
authors: Universidade Federal de Bahia , Salvador, BA , Brazil .
authors: Angelina
authors: A
authors: Acosta
authors: Instituto de Nutrición y Tecnología de los Alimentos , Universidad de Chile , Santiago , Chile .
authors: Juan Francisco
authors: JF
authors: Cabello
authors: Instituto de Genética Médica , Hospital Italiano , Montevideo , Uruguay .
authors: Aída
authors: A
authors: Lemes
authors: Departamento de Neuropediatra , Hospital Pequeno Príncipe , Curitiba, Paraná , Brazil .
authors: Mara Lucia Schmitz Ferreira
authors: ML
authors: Santos
authors: Hospital Universitario Austral , Buenos Aires , Argentina .
authors: Hernán
authors: H
authors: Amartino
keywords: Hunter syndrome; enzyme replacement therapy; iduronate-2-sulfatase; lysosomal disease; treatment guidelines