ABSTRACT
Objetivos: Caracterizar o perfil ventilatório e a capacidade funcional de pacientes com mucopolissacaridoses (MPS). Métodos: O perfil ventilatório caracterizou-se pela espirometria e pela forma da caixa torácica. A capacidade funcional foi obtida pela distância percorrida no teste de caminhada de seis minutos (DTC6M) e por questionários funcionais, Childhood Health Assessment Questionaire (CHAQ) e Health Assessment Questionaire (HAQ). Resultados: Dezenove pacientes com MPS, maioria do sexo masculino 16 (84,2%) e com mediana e intervalo interquartilíco (IIQ) de idade de 13,4 (6,3) anos. O MPS VI foi o mais frequente, 57,9%. Alteração na espirometria em 17/18 pacientes, com predomínio para o distúrbio ventilatório restritivo (DVR), 72,2%. Apresentaram alteração da caixa torácica 73,7%. Houve piora da capacidade vital forçada (CVF) (% previsto) com o aumento da idade para todos os tipos (r = - 0,37) e, ao retirar da análise o tipo II, a correlação aumentou consideravelmente (r = -0,726). A DTC6M em mediana e IIQ foi de 349 (106,5) metros, com variação mediana percentual, 64,7%, da distância percorrida prevista obtida pela equação de referência para indivíduos saudáveis, 575,2 (128,5) metros. Nos questionários funcionais, 13/19 pacientes tiveram leve comprometimento da capacidade funcional. Conclusão: Houve alterações da função pulmonar na espirometria, da caixa torácica e comprometimento da capacidade funcional. (AU)
Aims: To characterize the ventilatory profile and functional capacity of patients with mucopolysaccharidosis. Methods: The ventilatory profile was characterized by spirometry and evaluating the shape of the rib cage. Functional capacity was obtained by the distance covered on the six-minute walk test (6MWD) and, through functional questionnaires, the Childhood Health Assessment Questionnaire (CHAQ) and the Health Assessment Questionnaire (HAQ). Results: Nineteen patients were evaluated with MPS, most males, 16 (84.2%) with median and interquartile range (IQR) age of 13.4 (6.3) years. The most common types were VI, 57.9%. Change in spirometry in 17/18 patients who were examined, with predominance of restrictive ventilatory disorder, 72.2%. 73.7% patients had abnormal rib cage. There was worsening on forced vital capacity (FVC) (% predicted) with increasing age for all types (r = -0.37) and when withdrawing from Type II analysis, the correlation increased significantly (r = -0.726). The 6MWD median was 349 (IQR = 106.5) meters, with median percentage change, 64.7%, of distance traveled expected and obtained by reference equation for healthy individuals, 575.2(128.5) meters. Thirteen among 19 patients were assessed by functional questionnaires with mild impairment of functional capacity. Conclusion: Alterations were found in lung function through spirometry, abnormal rib cage and impaired functional capacity. (AU)