Chédiak-Higashi syndrome
presentation of seven cases
Palavras-chave:
Chédiak-Higashi, Primary immunodeficiency, Phagocyte, ChildResumo
CONTEXTO: A Síndrome de Chédiak-Higashi (SCH) é uma doença autossômica recessiva rara, caracterizada por infecções de repetição, grânulos citoplasmáticos gigantes e albinismo óculo-cutâneo. OBJETIVO: Descrever os achados clínico-laboratoriais de pacientes portadores de SCH. TIPO DE ESTUDO: Relato de caso. LOCAL: Unidade de Alergia e Imunologia do Instituto da Criança, uma Instituição pública de cuidados terciários. PACIENTES: Os sete pacientes apresentavam albinismo óculo-cutâneo, infecções de repetição e grânulos gigantes citoplasmáticos em leucócitos. Um paciente apresentou níveis séricos diminuídos de IgG e três apresentavam capacidade bactericida de neutrófilos reduzida. Seis pacientes faleceram durante infecção, na fase acelerada. A terapêutica incluiu ácido ascórbico e antibioticoterapia. A quimioterapia foi aplicada em dois pacientes na fase acelerada. O transplante de medula óssea (TMO) foi proposto para um paciente. DISCUSSÃO: Os autores ressaltam o diagnóstico precoce e o tratamento da SCH. O transplante de medula óssea deve ser indicado antes da fase acelerada da doença.
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