Abstract Mucopolysaccharidosis type II (MPS II) is a rare genetic, multiorgan disease. Little information about the Brazilian context is available to date; thus, this descriptive subgroup analysis was conducted on Brazilian data from the Hunter Outcome Survey (HOS), including clinical characteristics among MPS II patients from Brazil. HOS is a global, multi-center, long-term, observational registry of patients with MPS II (NCT03292887). Variables related to organ system involvement, signs and symptoms, surgical procedures and survival among Brazilian patients were extracted from HOS database. Data from 153 Brazilian patients with MPS II were analyzed. Musculoskeletal (96.6%), abdomen/gastrointestinal (95.2%), neurological (88.7%), pulmonary (86.2%), and ear (81.3%) were the most frequently observed organ/systems involved. Regarding signs and symptoms, the most prevalent symptom was coarse facial features consistent with the disease (94.6%), followed by joint stiffness and limited function (89.3%), hernia (84.2%) and hepatomegaly (82.2%). Median survival time was 22.0 years, and the major cause of death was respiratory failure (31.8%). These data may be helpful to understand disease characteristics and to help improve the quality of MPS II patient care in Brazil.

Abstract Mucopolysaccharidosis II (MPS II—Hunter syndrome) is an X-linked lysosomal storage disorder caused by a deficiency in iduronate-2 sulfatase. Enzyme replacement therapy does not cross the blood–brain barrier (BBB), limiting the results in neurological forms of the disease. Another treatment option for MPS, hematopoietic stem cell transplantation (HSCT) has become the treatment of choice for the severe form of MPS I since it can preserve neurocognition when performed early in the course of the disease. Even though the intravenous therapy does not cross the BBB, it has become the recommended treatment for MPS II, and HSCT was not often indicated. In an attempt to understand why this treatment modality is rejected by most specialists as a treatment option for patients with Hunter syndrome, we sought to raise all HSCT cases already reported in the scientific literature. Databases used were Medline/PubMed, Lilacs/BVS Cochrane Library, DARE, SciELO, and SCOPUS. Different combinations of the terms “mucopolysaccharidosis II,” “Hunter syndrome,” “hematopoietic stem cell transplantation,” “bone marrow transplantation,” and “umbilical cord blood stem cell transplantation” were used. A total of 780 articles were found. After excluding redundant references and articles not related to the theme, 26 articles were included. A descriptive summary of each article is presented, and the main features are summed up. The clinical experience with HSCT in MPS II is small, and most of the available literature is outdated. The available data reveal poor patient selection criteria, varied conditioning regimens, distinct follow-up parameters, and post-HSCT outcomes of interest, making impossible to compare and generalize the results obtained. Recently, after the development of new conditioning protocols and techniques and the creation of bone marrow donor registries and umbilical cord banks, HSCT has become more secure and accessible. It seems now appropriate to reconsider HSCT as a treatment option for the neuronopathic form of MPS II.

Realizou-se estudo descritivo e exploratório da experiência em município de médio porte da implantação de ações na área da Genética, conjugando a análise dos documentos oficiais e de um questionário aplicado a 43 profissionais de nível superior da Estratégia Saúde da Família. Os dados obtidos foram analisados buscando obter respostas sobre como e por que foram realizadas determinadas estratégias de atenção à saúde na área da Genética Clínica e Comunitária. Tais ações foram classificadas em "educação permanente", "vigilância em saúde" e "ampliação do acesso à assistência". Os resultados revelaram que ainda é necessário estender as ações de educação permanente na área para profissionais da atenção primária, possibilitando assim promover a efetivação dessa porta de entrada do Sistema Único de Saúde para a área da Genética e o acesso a um cuidado integral em saúde.

We conducted a descriptive study on the experience of implementation of actions in the area of genetics in a medium-sized municipality, combining the analysis of official documents and a questionnaire administered to 43 university level professionals of the Family Health Strategy. The data were analyzed looking for answers about how and why certain health care strategies in the area of clinical and community genetics were performed. Such actions were classified as "continuing education", "health surveillance" and "enhanced access to care". The results showed that it is still necessary to extend the actions of continuing education in genetics for primary care professionals, promoting this gateway to the SUS also to the area of genetics, in order to allow full access to comprehensive health care.

Realizou-se estudo descritivo e exploratório da experiência em município de médio porte da implantação de ações na área da Genética, conjugando a análise dos documentos oficiais e de um questionário aplicado a 43 profissionais de nível superior da Estratégia Saúde da Família. Os dados obtidos foram analisados buscando obter respostas sobre como e por que foram realizadas determinadas estratégias de atenção à saúde na área da Genética Clínica e Comunitária. Tais ações foram classificadas em "educação permanente", "vigilância em saúde" e "ampliação do acesso à assistência". Os resultados revelaram que ainda é necessário estender as ações de educação permanente na área para profissionais da atenção primária, possibilitando assim promover a efetivação dessa porta de entrada do Sistema Único de Saúde para a área da Genética e o acesso a um cuidado integral em saúde.

We conducted a descriptive study on the experience of implementation of actions in the area of genetics in a medium-sized municipality, combining the analysis of official documents and a questionnaire administered to 43 university level professionals of the Family Health Strategy. The data were analyzed looking for answers about how and why certain health care strategies in the area of clinical and community genetics were performed. Such actions were classified as "continuing education", "health surveillance" and "enhanced access to care". The results showed that it is still necessary to extend the actions of continuing education in genetics for primary care professionals, promoting this gateway to the SUS also to the area of genetics, in order to allow full access to comprehensive health care.