Um caso raro de discinesia ciliar primária associada a heterotaxia

Abstract

Primary ciliary dyskinesia is an autosomal recessive disease with a clinical history of upper and lowers respiratory infections, rhinosinusitis and bronquitis associated with complete or partial situs inversus. The authors present a 78 -year -old male caucasian patient with rhinosinusitis, lower respiratory tract infection and dyspnea, chronic otitis with hearing deficit and infertility followed in Gastroenterology for dyspepsia and constipation. The radiological studies revealed agenesis of right frontal sinus; bronchial wall thickening; bronchiectasis; cecum and ascending colon located on the left and small bowel occupies right side of abdomen. He had no immunodeficiency, allergies, cystic fibrosis and others. We concluded primary ciliary dyskinesia with heterotaxy. For the rarity of this case we decided to present it.

Management of primary ciliary dyskinesia/Kartagener′s syndrome in infertile male patients and current progress in defining the underlying genetic mechanism

“…However, in the presence of ciliary disorders, this directional rotation may become random, which may result in malrotation of various organs. Partial or complete situs inversus may result in this manner 35. In addition, congenital systemic structural and functional abnormalities of cilia always result in defective ciliary clearing function, causing the retention of secretions or bacteria.…”