Прогностичка важност на 6-минутен тест на одење кај педијатриски пациенти со прогресивна мускулна дистрофија Duchenne и цистична фиброза

Abstract

Introduction: Natural course of the Duchenne muscular dystrophy (DMD) means progressive loosing of motor functions and in cystic fibrosis (CF) means reduction of the functional respiratory capacity. To follow up the disease progression and the treatment effects we have introduced functional assessment at the time of diagnosis and during the treatment performing the six-minute walk test - 6MWT and other functional tests. Aim: To assess the motor function in DMD patients by performing the 6MWT, at the beginning of the study and one, two and three years after starting the treatment; to correlate it with laboratory findings and with other functional tests and with the type of the specific genetic defect (deletions, duplications, point mutations). To assess the respiratory weakness in patients with CF performing the 6MWT and other functional tests. Material and methods: 30 DMD patients at 5 to12 years age and 30 CF patients at 5 to18 years of age performed the 6MWT at the beginning of the study and one year after. The results were compared to the results of the 6MWT performed by age and sex matched healthy individuals. Performances of 6MWT, 10 meter walk/run test, timed Gowers test and NSAA ( North Star Ambulatory Asessment ) in DMD patients were prospectively followed at the beginning of the study and after one, two and three years follow up. Results: Functional assessment confirmed early stage of the disease in DMD patients with good motor function under steroid treatment predicting preserved self mobility in all the 30 patients for the next 1 to 4 years. Best performances had the young patients less than 7 years of age and those with basic 350 meters passed distance. Insignificantly better performances had the patients with duplications in the dystrophin gene correlating with those with other type of mutations. Diminished oxygen saturation during 6MWT in CF patients was noticed at patients with low starting FEV1 below 60%. Both examined groups DMD and CF had normal adaptability after equal performance on everyday physical activities measuring the vital signs. Conclusions: Following international standards of care for patients of DMD and CF we introduced the 6MWT as a mandatory procedure for assessment of the disease progression and for treatment decisions. Test performances can be a valuable help in recruitment of patients for gene specific therapy in DMD and CF patients, as well as candidates for pulmonary transplantation in CF patients.