Abstract

PORTUONDO LEYVA, Reyna; BRITO PORTUONDO, Carmen Adela  and  ABREU SUAREZ, Gladys. Primary ciliary dyskinesia. Rev Cubana Pediatr [online]. 2014, vol.86, n.4, pp.514-520. ISSN 0034-7531.

A seven-year old patient with Kartagener syndrome and clinical manifestations at birth that characterize the primary effects of ciliary motility such as neonatal respiratory distress, rhinosinusitis, otitis and chronic bronchitis, atelectasis and recurrent pneumonia. It was underlined that this disease has autosomal recessive inheritance, the possible occurrence of symptoms or malformations in other apparatuses or systems, in the child or his/her relatives. Since the early diagnosis has a significant impact on the quality of life of the individual and this is a difficult-to-diagnose disease, emphasis was made on the need of clinically suspecting the existence of primary ciliary dyskinesia if there are characteristics manifestations of the disease, mainly in children with situs inversus.

Keywords : Kartagener syndrome; primary ciliary dyskinesia; ciliopathies.

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