Terapia de reposição enzimática para as mucopolissacaridoses I, II e VI: recomendações de um grupo de especialistas brasileiros

Mucopolysaccharidosis type I, II and VI and response to enzyme replacement therapy: Results from a single-center case series study

“…The main presenting features such as facial appearance (Figure 1e-1f), joint restriction, and short stature for patients with MPS VI in our case series were similar to those presented in the literature (5,12,14,15).…”

“…Our findings support a strategy that involves the following steps in addition to pre-medication for symptom relief in response to an infusion reaction: i) temporary decrease of the infusion; ii) additional administration of antipyretics and antihistamines; and iii) discontinuation of the infusion and initiation of appropriate supportive measures immediately if a severe hypersensitivity reaction (14). The most serious adverse reactions observed in our study involved anaphylaxis and impaired respiratory function, warranting further monitoring; these have been previously evidenced in the literature as life-threatening as well (18,19).…”

Level of independence, functional capacity and respiratory muscle strength of patients with mucopolysaccharidosis type VI in the Northeast of Brazil

“…1 There are no alterations related to cognitive function in patients with MPS VI and specific therapy consists of replacing the deficient enzyme with the objective to delay the progression of the disease. 7,10 Therefore, early diagnosis and the initiation of enzyme replacement therapy (ERT) associated to multidisciplinary care are essential factors to improve these patients' quality of life. 11 Studies addressing the assessment tools to determine functional independence highlight the Pediatric Evaluation of Disability Inventory (PEDI), used for measuring functionality in children 12 and the Functional Independence Measure (FIM) for older children and adults.…”

“…7,16 Limitations in the musculoskeletal tissue also affect the respiratory muscles, harming the mechanic of the respiratory system in patients with MPS. 5,10,11 The analysis on respiratory muscle strength is used as a predictor of morbidity and mortality in various populations, 17,18 however, a medical literature review performed on Pubmed, SciELO and LILACS databases revealed few studies on patients with MPS. 19 The objective of this present study was to assess the level of the functional independence, the functional capacity and the respiratory muscle strength of patients with MPS VI.…”

Evaluation of grip strength and range of motion of the upper limbs in patients with mucopolysaccharidosis VI

“…4,8 Limitations to movements and flexional contractions of the joints affect especially the knees, hips, elbows, wrists, and fingers. 8,9,10 There is an inversely proportional relationship between age and the mobility of these joints-for the older the patient, the worst the mobility. 4 Thus, the evaluation of joint mobility can be considered a good marker of the evolution of MPS type VI.…”