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Rabdomiólise : revisão bibliográfica com base num caso clinico de etiologia rara
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A rabdomiólise é definida como uma condição patológica em que ocorre lesão e necrose das células do músculo-esquelético conduzindo à libertação de material intracelular tóxico para a circulação sanguínea. São várias as causas de uma crise de rabdomiólise, desde crises de etiologia traumática, das mais comuns, a crises causadas por deficiências enzimáticas, menos comuns. Uma dessas deficiências enzimáticas é a deficiência da acil-CoA desidrogenase de cadeia muito longa (VLCAD), e que é caracterizada como um defeito congénito do metabolismo dos ácidos gordos de cadeia muito longa. É causada por uma deficiência da enzima acil-CoA desidrogenase de cadeia muito longa, que catalisa o primeiro passo da β-oxidação dos ácidos gordos.
Todos os seres vivos necessitam de energia para crescer, movimentar-se, pensar e realizar qualquer outra atividade. A energia produz-se pela oxidação, principalmente dos açúcares (glicose) e dos ácidos gordos dentro das mitocôndrias, logo na existência de um defeito no metabolismo dos ácidos gordos, principalmente em situações em que as necessidades energéticas sejam maiores, ocorre a incapacidade de se produzir a quantidade de ATP adequada às necessidades das células musculares, e como tal, surgem as situações de rabdomiólise.
Frequentemente a rabdomiólise associa-se a lesão renal aguda (LRA), sendo essencial um tratamento eficaz para diminuir a morbilidade e mortalidade. Além do tratamento da LRA, é imprescindível tratar a etiologia base e principalmente no caso das deficiências enzimáticas é muito importante adotar medidas preventivas.
Rhabdomyolysis is defined as a pathological condition in which there is injury and necrosis of skeletal muscle cells, leading to release of toxic intracellular material into the bloodstream. There are several causes of rhabdomyolysis crisis, from traumatic etiology, the most common, to crisis caused by enzyme deficiencies, less common. One of these deficiencies is the enzymatic deficiency of Acyl- CoA dehydrogenase, very long chain (VLCAD), which is characterized as a congenital defect in the metabolism of very long chain fatty acids. It is caused by a deficiency of very long chain Acyl CoA dehydrogenase enzyme, that catalyzes the first step of the β - oxidation of fatty acids. Every living being needs energy to grow, move, think and perform other activities. The energy is produced by oxidation, mainly of sugars (glucose) and fatty acids into the mitochondria. The existence of a defect in the metabolism of fatty acids, particularly in activities where energy needs are greater than usual, causes an inability to produce adequate quantities of ATP to support the muscle cells necessities, causing rhabdomyolysis. Often rhabdomyolysis is associated with acute kidney injury (AKI), and an effective treatment is essential to reduce mortality and morbidity. In addition to the treatment of AKI is essential to treat the underlying etiology and especially in the case of enzyme deficiencies is very important to take preventive measures.
Rhabdomyolysis is defined as a pathological condition in which there is injury and necrosis of skeletal muscle cells, leading to release of toxic intracellular material into the bloodstream. There are several causes of rhabdomyolysis crisis, from traumatic etiology, the most common, to crisis caused by enzyme deficiencies, less common. One of these deficiencies is the enzymatic deficiency of Acyl- CoA dehydrogenase, very long chain (VLCAD), which is characterized as a congenital defect in the metabolism of very long chain fatty acids. It is caused by a deficiency of very long chain Acyl CoA dehydrogenase enzyme, that catalyzes the first step of the β - oxidation of fatty acids. Every living being needs energy to grow, move, think and perform other activities. The energy is produced by oxidation, mainly of sugars (glucose) and fatty acids into the mitochondria. The existence of a defect in the metabolism of fatty acids, particularly in activities where energy needs are greater than usual, causes an inability to produce adequate quantities of ATP to support the muscle cells necessities, causing rhabdomyolysis. Often rhabdomyolysis is associated with acute kidney injury (AKI), and an effective treatment is essential to reduce mortality and morbidity. In addition to the treatment of AKI is essential to treat the underlying etiology and especially in the case of enzyme deficiencies is very important to take preventive measures.
Descrição
Trabalho Final do Curso de Mestrado Integrado em Medicina, Faculdade de Medicina, Universidade de Lisboa, 2016
Palavras-chave
Rabdomiólise Lesão renal aguda Acil-CoA desidrogenase Pediatria