Primary ciliary dyskinesia and neonatal respiratory distress.

Kartagener‘s syndrome: Neonatal respiratory distress as initial symptom of primary ciliary dyskinesia

Primary ciliary dyskinesia: a cause of neonatal respiratory distress.

Primary ciliary dyskinesia (PCD) is a rare disorder associated with chronic respiratory problems and even more infrequently as a cause of neonatal respiratory distress. Of consecutive 12 children seen with a diagnosis of PCD, the disorder presented within the neonatal period in 11, with a positive family history in 50%. The diagnosis was delayed in several cases, despite suggestive radiological...

گزارش دو مورد اختلال حرکت اولیه مژک ها (گزارش مورد)

Primary ciliary dyskinesia and Kartagener's syndrome are rare genetic disorders. There is a ciliary dysfunction in these disorders that cause recurrent infections in respiratory and sinus tracts associated with dextrocardia, chronic vasomotor rhinitis and dextrocardia. The aim of this paper is to report two rare cases of Primary ciliary dyskinesia, including one case of primary ciliary dyskin...

Primary ciliary dyskinesia: diagnosis and standards of care.

Primary ciliary dyskinesia (PCD) is characterized by disease of the upper and lower respiratory tract, in association with visceral mirror image arrangement in 50% of cases, due to abnormal structure and/or function of cilia. The purpose of this paper is to review the clinical features, diagnosis and management of PCD. Presentations include neonatal respiratory distress, recurrent lower respira...

Genetic factors contributing to human primary ciliary dyskinesia and male infertility

Primary ciliary dyskinesia (PCD) is an autosomal-recessive disorder resulting from the loss of normal ciliary function. Symptoms include neonatal respiratory distress, chronic sinusitis, bronchiectasis, situs inversus, and infertility. However, only 15 PCD-associated genes have been identified to cause male infertility to date. Owing to the genetic heterogeneity of PCD, comprehensive molecular ...