Artigo Acesso aberto Revisado por pares

Lemierre's syndrome and genetic polymorphisms: a case report

2006; BioMed Central; Volume: 6; Issue: 1 Linguagem: Inglês

10.1186/1471-2334-6-115

ISSN

1471-2334

Autores

Jean‐Michel Constantin, Jean‐Paul Mira, Renaud Guérin, Sophie Cayot-Constantin, O. Lesens, F. Gourdon, J.‐P. Romaszko, Philippe Linval, H. Laurichesse, Jean-Étienne Bazin,

Tópico(s)

Infectious Diseases and Tuberculosis

Resumo

Lemierre's syndrome presents a classic clinical picture, the pathophysiology of which remains obscure. Attempts have been made to trace genetic predispositions that modify the host detection of pathogen or the resultant systemic reaction. A 17-year old female, with no previous medical history, was admitted to the intensive care unit for septic shock, acute respiratory distress syndrome and Lemierre's syndrome. Her DNA was assayed for single nucleotide polymorphisms previously incriminated in the detection of the pathogen, the inflammatory response and the coagulation cascade. We observed functional variations in her Toll like 5 receptor (TLR 5) gene and two coagulation variations (Tissue Factor (TF) 603 and Plasminogen-Activator-Inhibitor-1 (PAI-1) 4G-4G homozygosity) associated with thrombotic events. The innate immune response and the prothrombogenic mutations could explain, at least in part, the symptoms of Lemierre's syndrome. Genomic study of several patients with Lemierre's syndrome may reveal its pathophysiology.

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