CHAVES, G. O.; http://lattes.cnpq.br/4711619812950273; CHAVES, Gabriela Oliveira.; AQUINO, Yasmin Fernandes de.
Résumé:
Mucopolysaccharidoses (MPS) are a group of genetic diseases
characterized by the deficiency of lysosomal enzymes involved in the degradation
of glycosaminoglycans (GAGs), leading to accumulation of these substances in
various organs, resulting in a multisystemic disease. Mucopolysaccharidosis type
IV A (MPS-IVA) is characterized by the severity of bone involvement, presenting
multiple dysostosis, joint hypermobility and severe short stature. Bone
development and mineralization are believed to be abnormal, which in addition to
immobility, low nutrient intake and vitamin D deficiency result in early low bone
mass. In this cross-sectional study were evaluated bone mineral density, bone
mineral content and Z score by bone densitometry of the whole body and forearm;
markers of bone turnover; calcium intake in treatment-naive patients with enzyme
replacement and bone turnover markers after six months of treatment with alpha-
elossulfase. Twenty-one patients were included in the baseline analysis and 16
were evaluated after six months of treatment. Regarding the baseline data, low
bone mass was found in all patients with a mean Z-score of -3.27. Serum C-
telopeptide X (CTX), marker of bone resorption, was above the upper limit of
normal in a significant number of patients with a baseline mean of 0.490 ng/mL.
Calcium intake was below that recommended for all patients, presenting a mean of
327.79 mg in 24h. The risk factor that was best associated with the severity of low
bone mass was patient immobility. The results of the exams after six months of
therapy showed a reduction in the mean value of the CTX, with an average value
of 0.470 ng/mL. In the evaluation of the osteometabolic profile of patients with
MPSIVA, a high prevalence of low bone mass was identified, which was lower in
patients who preserved the ability to ambulate. The reduction in the mean value of
CTX after the institution of
enzymatic replacement indicates a positive effect of treatment on the bone mass
of these patients.
