DANTAS, G. S.; http://lattes.cnpq.br/1236918496414556; DANTAS, Giuliane de Santana.
Résumé:
Mucopolysaccharidosis (MPS) are caused by the lack of specific
lysosomal enzymes that affect glycosaminoglycans (GAGs) catabolism, resulting in
progressive metabolic disorders. Eleven enzymatic defects have already been
identified as the cause of seven distinct types of MPS. Individuals with MPS seem
clinically normal at birth and about two years later, they develop progressive
impairments of organs and systems, characterized by morphological and functional
changes. MPS diagnosis is usually in late-onset due to the disease rarity and
phenotypic heterogeneity. In the absence of newborn screening for MPS, early
manifestation of clinical signs that may lead to MPS diagnosis has been sought out.
Studies comprising specific types of MPS and exhibiting conflicting results indicate
that newborns and infants with MPS usually present with higher weight and length
at birth than general population, although reduced final height is common to many
MPS. Aim: To verify whether anthropometric data from birth to the first 6 months
contrast from general population, based on World Health Organization (WHO) data.
Methods: A retrospective descriptive analysis of anthropometric outcomes from
birth up to the first 6 months was carried out, encompassing 32 patients who
presented with MPS I, II, IIIC, IVA or VI, followed up in Medical Genetics sector at
the University Hospital Alcides Carneiro; a comparison between them and P50
values of anthropometric tables provided by WHO was performed. Anthropometric
data were collected from the Child Health Handbook and medical records of patients
with MPS, being descriptively and inferentially analyzed. Results: 1-Analysis at
birth: average weight and length are higher than general population, however, a
significant difference was found for weight and female gender. Average weight for
patients with MPSIIIC was lower than average baseline values, whereas MPSIVA
and VI exhibited higher values, with significant difference between MPSIVA and VI
MPS IIIC. Mean length of the most frequent three types of MPS within the sample
was high, but no significant differences were found between either reference values
neither among the analyzed MPS types. 2-Analysis of the first semester of life:
average weight and length were higher than benchmark values over all assessed
months, with a crescent and significant difference. Average weight of males was
higher than females, with a significant difference in the forth month assessment. The
comparative analysis among types of MPS was hampered due to a lack of data
homogeneity, even in the most popular MPS. Conclusion: The analysis of
anthropometric data of patients with MPS I, IIIC, IVA and VI at birth and throughout
the first six months of life exhibited higher values than those presented by WHO,
thus they might suggest the hypothesis of diagnosing MPS.