DISCINESIA CILIAR PRIMÁRIA, UM CASO ATÍPICO RESUMO release_u25juwvpmvhujdrvijc4up7sre

by Ana Paschualinoto, Marizia Amaral-Toma

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abstracts[] {'sha1': '1b9238af3f5056bd91c06485c7df63f505c7bd42', 'content': 'Discinesia ciliar primária (DCP) é uma doença rara classicamente transmitida como autossomica recessiva e caracterizada por infecções devido a estrutura e função ciliar anormal. Nós investigamos uma família não consangüínea onde três homens apresentaram sintomas de DCP e um deles teve o caso confirmado. A história da família sugere herança recessiva ligada ao cromossomo X e o provável gene envolvido é gene OFD1. A investigação desse gene será importante, pois poderá confirmar uma outra mutação envolvida na doença genética Discinesia Ciliar Primária. Palavras-chave: Discinesia ciliar primária. Herança ligada ao X. Gene OFD1. Gene RPGR. ABSTRACT Primary ciliary dyskinesia (PCD) is a rare disease classically transmitted as an autosomal recessive and characterized by infections due to abnormal ciliary structure and function. We investigated a consanguineous family where three men did not show symptoms of PDD and had one confirmed case. Family history suggests recessive inheritance X-linked gene involved and the likely gene is OFD1. The investigation of this gene is important because it may confirm another mutation involved in genetic disease primary ciliary dyskinesia.', 'mimetype': 'text/plain', 'lang': None}
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