A carregar...
Publicação
Elevação assintomática/paucissintomática de CK em idade pediátrica
| Nome: | Descrição: | Tamanho: | Formato: | |
|---|---|---|---|---|
| 859.83 KB | Adobe PDF |
Orientador(es)
Resumo(s)
A elevação assintomática de CK surge tipicamente associada à exposição a medicamentos, exercício físico intenso, trauma e a determinadas doenças sistémicas. No entanto, inúmeras doenças neuromusculares também se podem manifestar com hiperCKemia assintomática. Muitas destas doenças neuromusculares apresentam complicações graves e permanentes, as quais podem ser atenuadas, caso o diagnóstico e consequente tratamento (quando disponível) sejam realizados o mais precocemente possível. Muitos destes casos são pauci ou assintomáticos em idade pediátrica, surgindo os primeiros sintomas numa fase mais tardia da história natural da doença. Contudo, são passíveis de diagnóstico precoce por identificação de hiperCKemia. Na literatura existem alguns algoritmos propostos para o diagnóstico de hiperCKemia assintomática/paucissintomática. Contudo, estes não contemplam a população pediátrica, na qual um diagnóstico precoce poderá alterar o curso natural da doença. Esta Tese propõe o desenvolvimento de um algoritmo de diagnóstico de hiperCKemia assintomática/paucissintomática direcionado para a população pediátrica. Para alcançar este objetivo realizou-se uma revisão retrospetiva dos doentes com hiperCKemia assintomática/paucissintomática na unidade de Neuropediatria do Hospital de Santa Maria entre 2006 e 2020. Analisaram-se os dados demográficos, antecedentes pessoais e familiares, sintomas acompanhantes, valor máximo de CK, exame objetivo na primeira consulta, resultados de EMG, biópsia muscular e testes genéticos, diagnóstico final e follow-up. Os resultados obtidos permitiram estratificar a marcha diagnóstica, com reforço da necessidade de realização de uma anamnese cuidada, com particular atenção à história familiar. Do mesmo modo, a ordem de grandeza da elevação de CK pode ser um auxiliar na definição de hipóteses de diagnóstico. Devem ser realizados exames complementares de diagnóstico, como o EMG e, em casos específicos, a biópsia muscular. Para o estabelecimento de um diagnóstico etiológico, torna-se cada vez mais relevante a realização de testes genéticos.
Asymptomatic CK elevation is typically associated with drug exposure, intense physical exercise, trauma, and certain systemic diseases. However, numerous neuromuscular diseases can also manifest with asymptomatic hyperCKemia. Many of these neuromuscular diseases have serious and permanent complications, which can be mitigated if the diagnosis and subsequent treatment (when available) are carried out as early as possible. Many of these cases are pauci or asymptomatic in pediatric age, with the first symptoms appearing later in the natural history of the disease. However, they can be early diagnosed by identifying hyperCKemia. In the literature, there are some proposed algorithms for the diagnosis of asymptomatic/paucisymptomatic hyperCKemia. However, these do not include the pediatric population, in which an early diagnosis may change the natural course of the disease. This Thesis proposes the development of a diagnostic algorithm for asymptomatic/paucisymptomatic hyperCKemia directed to the pediatric population. To achieve this objective, a retrospective study of patients with asymptomatic/paucisymptomatic hyperCKemia in the Neuropediatrics unit of the Hospital de Santa Maria between 2006 and 2020 was carried out. The study includes demographic data, personal and family history, accompanying symptoms, maximum value of CK, objective examination at the first visit, EMG results, muscle biopsy and genetic testing, final diagnosis and follow-up. The obtained results made the stratification of the diagnostic process possible, while reinforcing the need to carry out a careful anamnesis, with particular attention to family history. Likewise, the CK elevation order of magnitude can be an aid in defining diagnostic hypotheses. Complementary diagnostic exams should be performed, such as the EMG and, in specific cases, muscle biopsy. For the establishment of a diagnosis, it becomes increasingly relevant to carry out genetic tests.
Asymptomatic CK elevation is typically associated with drug exposure, intense physical exercise, trauma, and certain systemic diseases. However, numerous neuromuscular diseases can also manifest with asymptomatic hyperCKemia. Many of these neuromuscular diseases have serious and permanent complications, which can be mitigated if the diagnosis and subsequent treatment (when available) are carried out as early as possible. Many of these cases are pauci or asymptomatic in pediatric age, with the first symptoms appearing later in the natural history of the disease. However, they can be early diagnosed by identifying hyperCKemia. In the literature, there are some proposed algorithms for the diagnosis of asymptomatic/paucisymptomatic hyperCKemia. However, these do not include the pediatric population, in which an early diagnosis may change the natural course of the disease. This Thesis proposes the development of a diagnostic algorithm for asymptomatic/paucisymptomatic hyperCKemia directed to the pediatric population. To achieve this objective, a retrospective study of patients with asymptomatic/paucisymptomatic hyperCKemia in the Neuropediatrics unit of the Hospital de Santa Maria between 2006 and 2020 was carried out. The study includes demographic data, personal and family history, accompanying symptoms, maximum value of CK, objective examination at the first visit, EMG results, muscle biopsy and genetic testing, final diagnosis and follow-up. The obtained results made the stratification of the diagnostic process possible, while reinforcing the need to carry out a careful anamnesis, with particular attention to family history. Likewise, the CK elevation order of magnitude can be an aid in defining diagnostic hypotheses. Complementary diagnostic exams should be performed, such as the EMG and, in specific cases, muscle biopsy. For the establishment of a diagnosis, it becomes increasingly relevant to carry out genetic tests.
Descrição
Trabalho Final do Curso de Mestrado Integrado em Medicina, Faculdade de Medicina, Universidade de Lisboa, 2023
Palavras-chave
HiperCKemia Assintomática Paucissintomática Doenças neuromusculares Pediatria