Crescimento ao nascimento e no primeiro semestre de vida como sinal precoce de mucopolissacaridose.

Abstract

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.