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Eficácia do tratamento dietético na leucinose : avaliação de parâmetros clínicos, bioquímicos e antropométrico
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Resumo(s)
Introdução: A leucinose é um erro hereditário do metabolismo, de transmissão autossómica recessiva, causada pelo défice de atividade do complexo multienzimático responsável pela desidrogenação dos α-cetoácidos de cadeia ramificada (Branch Chain α-Keto Acids Dehydrogenase – BCKAD), com consequente acumulação, nos tecidos e fluidos orgânicos, de aminoácidos de cadeia ramificada (Branch Chain Amino Acids – BCAAs) e dos respetivos α-cetoácidos. A forma clássica ou neonatal é a mais frequente, ocorrendo em cerca de 80% dos casos e estando associada a um nível de atividade enzimática inferior a 2%.
A restrição dietética de BCAAs é essencial para manter um bom controlo metabólico da doença, de modo a reduzir a toxicidade induzida pelos metabolitos tóxicos; no entanto, e por serem considerados aminoácidos essenciais, é fundamental impedir o seu défice e garantir um crescimento e desenvolvimento adequados.
Recentemente foram publicadas novas guidelines para o tratamento da leucinose, as quais recomendam, como valores de referência, níveis plasmáticos de BCAAs mais elevados, relativamente aos anteriormente preconizados, com o objetivo de melhorar a homeostasia metabólica, reduzir a frequência de descompensações metabólicas e melhorar o estado nutricional.
Objetivo: Avaliar o impacto das guidelines recentemente publicadas por Dianne Fraiser et al. através da determinação de parâmetros clínicos, bioquímicos e antropométricos.
Métodos: Estudo prospetivo experimental de intervenção terapêutica numa coorte de 11 doentes, com forma clássica de leucinose, seguidos na consulta de doenças metabólicas do HSM. A recolha de dados realizou-se em 3 tempos de avaliação prospetiva; à primeira avaliação, designada por T0 (pré intervenção), seguiu-se um ajuste no aporte de BCAAs em função dos valores de referência preconizados pela guideline em avaliação. A segunda e terceira avaliações, realizadas respetivamente aos 3 e 6 meses, foram designadas por T1 e T2. Em cada tempo de avaliação foram recolhidos parâmetros clínicos, bioquímicos e antropométricos cuja análise estatística foi realizada com recurso ao programa SPSS® v22.
Resultados: A nível clínico e ao longo do período de estudo verificou-se uma diminuição do número de descompensações metabólicas e, consequentemente, do número de internamentos, bem como uma reversão significativa das alterações nas faneras. Relativamente aos parâmetros bioquímicos, observou-se uma melhoria significativa no perfil plasmático de leucina, salientando-se também a melhoria de outros parâmetros (séricos/plasmáticos), como proteínas totais, ácido fólico, selénio, glutatião e homocisteína. Relativamente aos parâmetros antropométricos, verificou-se uma melhoria geral, com especial relevância na altura.
Discussão/conclusão: A implementação das recomendações, com especial relevo para o aumento na suplementação de BCAAs, teve um impacto positivo no status clínico dos doentes da coorte em estudo. Pela escassez de estudos, neste contexto, o presente trabalho constitui um primeiro contributo para a melhor caraterização desta doença e do seu tratamento, reforçando a importância de uma intervenção nutricional individualizada.
Introduction: MSUD is a rare hereditary autosomal recessive metabolic disorder caused by the deficit of the multienzymatic complex BCKAD, which leads to the accumulation, in body tissues and fluids, of BCAAs and their corresponding α-keto acids. The classic or neonatal form is the most frequent, which occurs in 80% of the patients and is associated with less than 2% of enzymatic activity. Dietary restriction of BCAAs is essential to maintain a good metabolic control, reducing the toxicity induced by those metabolites; however, as essential amino acids, it is mandatory to prevent their deficit, ensuring an adequate growth and development of patients. Recently, new guidelines for the treatment of MSUD have been published, which advocate higher plasma levels of BCAAs than the previously recommended, in order to improve metabolic homeostasis, to reduce the number of metabolic decompensations, and to achieve better nutritional status. Aim: To evaluate the impact of the recently published guidelines for the treatment of MSUD through clinical, biochemical and anthropometric parameters assessment. Methods: An experimental prospective study with therapeutic intervention was designed and applied to a cohort of 11 patients with classic MSUD followed in the Metabolic Diseases Unit at HSM. Data were collected at 3 times of prospective evaluation; the first evaluation, designated T0 (pre-intervention), was followed by an adjustment in the BCAAs relative intake according to the reference values recommended by the guideline under evaluation. The second and third evaluations, performed respectively after 3 and 6 months, were designated T1 and T2. At each evaluation time, clinical, biochemical and anthropometric parameters were collected, whose statistical analysis was performed using the SPSS® v22 program. Results: At clinical level, within the study period, there was a decrease in the number of metabolic decompensation episodes and, consequently, in hospitalizations, as well as a significant reversion of skin, hair and nails abnormalities. Regarding biochemical parameters, an improvement in plasmatic leucine profile was observed, as well as in other parameters such as total proteins, folic acid, selenium, glutathione and homocysteine. Moreover, anthropometric parameters revealed a global improvement, especially in height. Discussion/conclusion: By increasing BCAAs supplementation according to the new recommendations, we observed a positive impact on the clinical status of patients under study, as compared to previous standard intervention. Due to the lack of studies, this work represents a first contribution to a better characterization of this disease and underlying treatment, highlighting the importance of an individualized nutritional intervention.
Introduction: MSUD is a rare hereditary autosomal recessive metabolic disorder caused by the deficit of the multienzymatic complex BCKAD, which leads to the accumulation, in body tissues and fluids, of BCAAs and their corresponding α-keto acids. The classic or neonatal form is the most frequent, which occurs in 80% of the patients and is associated with less than 2% of enzymatic activity. Dietary restriction of BCAAs is essential to maintain a good metabolic control, reducing the toxicity induced by those metabolites; however, as essential amino acids, it is mandatory to prevent their deficit, ensuring an adequate growth and development of patients. Recently, new guidelines for the treatment of MSUD have been published, which advocate higher plasma levels of BCAAs than the previously recommended, in order to improve metabolic homeostasis, to reduce the number of metabolic decompensations, and to achieve better nutritional status. Aim: To evaluate the impact of the recently published guidelines for the treatment of MSUD through clinical, biochemical and anthropometric parameters assessment. Methods: An experimental prospective study with therapeutic intervention was designed and applied to a cohort of 11 patients with classic MSUD followed in the Metabolic Diseases Unit at HSM. Data were collected at 3 times of prospective evaluation; the first evaluation, designated T0 (pre-intervention), was followed by an adjustment in the BCAAs relative intake according to the reference values recommended by the guideline under evaluation. The second and third evaluations, performed respectively after 3 and 6 months, were designated T1 and T2. At each evaluation time, clinical, biochemical and anthropometric parameters were collected, whose statistical analysis was performed using the SPSS® v22 program. Results: At clinical level, within the study period, there was a decrease in the number of metabolic decompensation episodes and, consequently, in hospitalizations, as well as a significant reversion of skin, hair and nails abnormalities. Regarding biochemical parameters, an improvement in plasmatic leucine profile was observed, as well as in other parameters such as total proteins, folic acid, selenium, glutathione and homocysteine. Moreover, anthropometric parameters revealed a global improvement, especially in height. Discussion/conclusion: By increasing BCAAs supplementation according to the new recommendations, we observed a positive impact on the clinical status of patients under study, as compared to previous standard intervention. Due to the lack of studies, this work represents a first contribution to a better characterization of this disease and underlying treatment, highlighting the importance of an individualized nutritional intervention.
Descrição
Tese de mestrado, Epidemiologia, Universidade de Lisboa, Faculdade de Medicina, 2019
Palavras-chave
Leucinose Parâmetros Dieta terapêutica Epidemiologia Teses de mestrado - 2019