ABSTRACT
ABSTRACT Objective: To analyze the bone health of pediatric patients with short bowel syndrome intestinal failure (SBS-IF). Data source: An integrative literature review was performed using the data published in the MEDLINE-PubMed and Scientific Electronic Library Online (SciELO) databases between January 2010 and April 2021, and through a manual search of the reference lists of relevant studies. Studies were included if they assessed bone mineral density by the Dual X-Ray Absorptiometry (DXA) technique, incorporated pediatric patients (up to 20 years of age) with SBS under parenteral nutrition (PN) and were written in English. Eleven primary sources met the inclusion criteria for this study. Data synthesis: Pediatric patients with SBS-IF under long-term parenteral nutrition experienced frequent changes in bone metabolism, leading to osteoporotic fractures and growth failure. These patients have deficiencies in multiple nutrients, such as calcium, magnesium, phosphorus, and vitamin D. Consequently, there are variations in the secretion and regulation of the parathyroid hormone. In addition, the pharmacotechnical limitations related to calcium and phosphorus in the PN solution, use of glucocorticoids, and difficulty performing physical activity are risk factors for the development of metabolic bone disease in pediatric patients with SBS-IF. Conclusions: Low bone mineral density was associated with a high risk of developing osteoporosis, fractures, and growth deficiency in pediatric patients with SBS-IF on PN therapy in the long term.
Objetivo: Analisar a saúde óssea de pacientes pediátricos com síndrome do intestino curto — falência intestinal (SIC-FI). Fontes de dados: Revisão integrativa da literatura usando os dados publicados nas bases de dados Medical Literature Analysis and Retrieval System Online/ United States National Library of Medicine (MEDLINE/PubMed) e Scientific Electronic Library Online (SciELO) entre janeiro de 2010 e abril de 2021 e por meio de busca manual nas listas de referências de estudos relevantes. Foram incluídos estudos em inglês que avaliaram a densidade mineral óssea pela técnica de absorciometria de raio X duplo (DXA), incluíram pacientes pediátricos (até 20 anos de idade) com SIC sob terpia nutricional parenteral. Onze fontes primárias preencheram os critérios de inclusão para este estudo. Síntese dos dados: A pesquisa revelou que pacientes pediátricos com SIC-FI sob nutrição parenteral (NP) de longo prazo tiveram alterações frequentes no metabolismo ósseo, levando a fraturas osteoporóticas e falha de crescimento. Esses pacientes apresentam deficiências de múltiplos nutrientes, como cálcio, magnésio, fósforo e vitamina D. Consequentemente, houve variações na secreção e regulação do hormônio da paratireoide. Além disso, as limitações farmacotécnicas relacionadas ao cálcio e fósforo na solução de NP, o uso de glicocorticoides e dificuldade para realizar atividade física são fatores de risco para o desenvolvimento de doença óssea metabólica em pacientes pediátricos com SIC-FI. Conclusões: A baixa densidade mineral óssea foi associada a um alto risco de desenvolver osteoporose, fraturas e deficiência de crescimento em pacientes pediátricos com SIC-FI sob terapia nutricional parenteral em longo prazo.
ABSTRACT
ABSTRACT Research on the genetics, epidemiology, and clinical manifestations of Fabry disease (FD) has increased significantly in recent years. However, some relevant clinical questions still need to be answered to develop better approaches to patient management. This review focuses on answering specific questions raised by Brazilian experts based on their experience in diagnosing and managing patients with FD. The questions are as follows: What is the role of globotriaosylsphingosine in diagnosis? How does one proceed with the diagnosis if there is a variant of unknown significance? What are the earliest and most reliable markers of renal, cardiac, and neurological impairment? What is the prevalence of FD in patients with cryptogenic stroke? What is the average delay in diagnosis in patients with FD? Based on these questions, our objective was to highlight epidemiological, diagnostic, and clinical aspects relating to the literature in the FD field.