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Granulomatose séptica crónica na infância

Granulomatose séptica crónica na infância

Abir Kallel / Imene Moalla / Manel Weli

72,21 €
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Editorial:
KS OmniScriptum Publishing
Año de edición:
2026
Materia
Medicina clínica e interna
ISBN:
9786630190953
72,21 €
IVA incluido
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Sobre IBD

A granulomatose séptica crónica é uma imunodeficiência primária rara, devida a uma disfunção do complexo NADPH-oxidase dos fagócitos.A doença é de origem genética, sendo transmitida na maioria dos casos de forma recessiva ligada ao cromossoma X e, mais raramente, de forma autossómica recessiva. As formas ligadas ao cromossoma X são geralmente mais graves e manifestam-se mais precocemente.O diagnóstico é frequentemente estabelecido logo nos primeiros anos de vida, face a infeções graves e recorrentes. Os doentes estão particularmente expostos a infeções bacterianas e fúngicas, nomeadamente à aspergilose invasiva.Os granulomas inflamatórios crónicos podem também afetar vários órgãos e comprometer a qualidade de vida das crianças afetadas.

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