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Aspetos bioquímicos das doenças músculo-esqueléticas
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Abstract(s)
Nesta dissertação pretende-se perceber e identificar as principais alterações bioquímicas que ocorrem nas doenças músculo-esqueléticas, nomeadamente no raquitismo, osteoporose, osteomalacia, doença de Paget, gota, artrite reumatoide, osteoartrite, algumas distrofias musculares e miopatias metabólicas. Nesse sentido, foi alvo de análise o reconhecimento dos possíveis marcadores bioquímicos de cada doença, sendo realçada a forma como os mesmos podem ser utilizados no diagnóstico. Adicionalmente, foram identificados os tratamentos e fármacos empregues em cada patologia, bem como apresentadas as moléculas que se encontram disponíveis em Portugal.
Foi realizada uma extensa revisão bibliográfica com o intuito de análise do estado atual em termos de conhecimento nesta área, reconhecendo as lacunas existentes e percebendo de que forma a ciência está a evoluir no desenvolvimento do tema.
Assim, identificaram-se as alterações e os marcadores bioquímicos mais utilizados para o diagnóstico das doenças músculo-esqueléticas. A enzima fosfatase ácida resistente ao tartarato, os produtos resultantes do catabolismo do colagénio, a enzima fosfatase alcalina, a osteocalcina, pró-péptidos do colagénio tipo I, cálcio, fósforo, formas ativas de vitamina D, ácido úrico e marcadores pró-inflamatórios, integram alguns dos mais importantes. Concluiu-se que os biomarcadores, pelas potencialidades identificadas, devem ser utilizados na prática clínica e constituírem parte integrante do diagnóstico das várias patologias. De entre as potencialidades são realçadas a capacidade para identificação de riscos e propensão para a ocorrência de uma doença, a capacidade para estratificar doentes e identificar a gravidade e/ou progressão de uma determinada patologia, previsão do prognóstico e aptidão para a monitorização de um determinado tratamento.
This dissertation aims to understand and identify the main biochemical changes that occur in musculoskeletal diseases, namely rickets, osteoporosis, osteomalacia, Paget's disease, gout, rheumatoid arthritis, osteoarthritis, some muscular dystrophies and metabolic myopathies. In this sense, the target of analysis was the recognition of possible biochemical markers of each disease, highlighting how they can be used in the diagnosis. Additionally, the treatments and drugs used in each pathology were identified, as well as the molecules that are available in Portugal. An extensive literature review was conducted to analyze the current state of knowledge in this area, recognizing the existing gaps and understanding how science is evolving in the development of the theme. Thus, it was identified the most used biochemical markers and alterations for the diagnosis of musculoskeletal diseases. Tartrate-resistant acid phosphatase enzyme, collagen catabolism products, alkaline phosphatase enzyme, osteocalcin, type I collagen propeptides, calcium, phosphorus, active forms of vitamin D, uric acid and pro-inflammatory markers, integrate some of the most important. It was concluded that the biomarkers, due to the identified potentialities, should be used in clinical practice and be an integral part of the diagnosis of the various pathologies. Among the potentialities are highlighted the ability to identify risks and propensity for the occurrence of a disease, the ability to stratify patients and to identify the severity and/or progression of a given pathology, prediction of prognosis and ability to monitor a treatment.
This dissertation aims to understand and identify the main biochemical changes that occur in musculoskeletal diseases, namely rickets, osteoporosis, osteomalacia, Paget's disease, gout, rheumatoid arthritis, osteoarthritis, some muscular dystrophies and metabolic myopathies. In this sense, the target of analysis was the recognition of possible biochemical markers of each disease, highlighting how they can be used in the diagnosis. Additionally, the treatments and drugs used in each pathology were identified, as well as the molecules that are available in Portugal. An extensive literature review was conducted to analyze the current state of knowledge in this area, recognizing the existing gaps and understanding how science is evolving in the development of the theme. Thus, it was identified the most used biochemical markers and alterations for the diagnosis of musculoskeletal diseases. Tartrate-resistant acid phosphatase enzyme, collagen catabolism products, alkaline phosphatase enzyme, osteocalcin, type I collagen propeptides, calcium, phosphorus, active forms of vitamin D, uric acid and pro-inflammatory markers, integrate some of the most important. It was concluded that the biomarkers, due to the identified potentialities, should be used in clinical practice and be an integral part of the diagnosis of the various pathologies. Among the potentialities are highlighted the ability to identify risks and propensity for the occurrence of a disease, the ability to stratify patients and to identify the severity and/or progression of a given pathology, prediction of prognosis and ability to monitor a treatment.
Description
Keywords
Doenças músculo-esqueléticas Bioquímica Alterações bioquímicas Marcadores bioquímicos Osso Doenças ósseas Raquitismo Osteoporose Osteomalacia Doença de Paget Articulação Cartilagem Doenças articulares Gota Artrite reumatoide Osteoartrite Músculo Doenças musculares Distrofias musculares Miopatia Musculoskeletal disorders Biochemistry Biochemical changes Biochemical markers Bones Bone disease Rickets Osteoporosis Osteomalacia Paget's disease Joint Cartilage Joint disease Gout Rheumatoid arthritis Osteoarthritis Muscles Muscle diseases Muscular dystrophies Myopathy