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Síndrome Hemofagocítica e Cerebral Salt Wasting em adolescente com Doença de Crohn : um caso clínico
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Resumo(s)
A Síndrome Hemofagocítica, ou Linfohistiocitose Hemofagocítica, é uma doença rara e potencialmente fatal causada por uma activação excessiva do sistema imunitário que culmina num estado hiperinflamatório. A Síndrome Hemofagocítica Primária está associada a defeitos genéticos, enquanto que a Síndrome Hemofagocítica Secundária se pode desenvolver como uma complicação de doenças infecciosas, auto-imunes/auto-inflamatórias ou neoplásicas, bem como secundariamente ao tratamento com determinados fármacos.
Neste trabalho é apresentado um caso de Síndrome Hemofagocítica diagnosticado numa adolescente com Doença de Crohn, com as dificuldades inerentes à sua abordagem, e na sequência do qual se desenvolveu um quadro de Síndrome da Perda de Sal – uma causa rara de hiponatrémia cuja fisiopatologia permanece por esclarecer. De acordo com a revisão da literatura realizada, esta é a primeira descrição da associação entre Síndrome Hemofagocítica e Síndrome da Perda de Sal. Assim sendo, o presente trabalho procura interpretar estas duas entidades clínicas face ao caso clínico descrito, determinar a sua possível relação, e ainda avaliar os diferentes factores que podem ter influenciado a sua manifestação nesta doente.
Hemophagocytic Syndrome, or Hemophagocytic Lymphohistiocytosis, is a rare and potentially fatal disease caused by excessive activation of the immune system that leads to a hyperinflammatory state. Primary Hemophagocytic Syndrome is associated with genetic defects, whereas Secondary Hemophagocytic Syndrome may develop as a complication of infectious, autoimmune/autoinflammatory and malignant conditions, as well as secondarily to treatment with certain drugs. This paper presents a case report of Hemophagocytic Syndrome diagnosed in an adolescent with Crohn's disease, with its inherent complications, and who later developed Cerebral Salt Wasting Syndrome - a rare cause of hyponatremia whose pathophysiology remains largely unknown. According to the research performed, this is the first report of an association between Hemophagocytic Syndrome and Cerebral Salt Wasting. Therefore, the present study sets to interpret these two clinical entities regarding the clinical case described, to determine their possible relation, and to evaluate the different factors that may have influenced its development in this patient.
Hemophagocytic Syndrome, or Hemophagocytic Lymphohistiocytosis, is a rare and potentially fatal disease caused by excessive activation of the immune system that leads to a hyperinflammatory state. Primary Hemophagocytic Syndrome is associated with genetic defects, whereas Secondary Hemophagocytic Syndrome may develop as a complication of infectious, autoimmune/autoinflammatory and malignant conditions, as well as secondarily to treatment with certain drugs. This paper presents a case report of Hemophagocytic Syndrome diagnosed in an adolescent with Crohn's disease, with its inherent complications, and who later developed Cerebral Salt Wasting Syndrome - a rare cause of hyponatremia whose pathophysiology remains largely unknown. According to the research performed, this is the first report of an association between Hemophagocytic Syndrome and Cerebral Salt Wasting. Therefore, the present study sets to interpret these two clinical entities regarding the clinical case described, to determine their possible relation, and to evaluate the different factors that may have influenced its development in this patient.
Descrição
Trabalho Final do Curso de Mestrado Integrado em Medicina, Faculdade de Medicina, Universidade de Lisboa, 2019
Palavras-chave
Síndrome hemofagocítica Linfohistiocitose hemofagocítica Síndrome de activação macrofágica Doença de Crohn Síndrome da perda de sal Hiponatrémia Pediatria