Primary Ciliary Dyskinesia: Updates on Diagnosis, Follow-Up and Treatment

  • Rodrigo Sousa Departamento de Pediatria Hospital Beatriz Ângelo Loures
  • Carolina Constant Unidade de Pneumologia Pediátrica, Departamento de Pediatria, HSM-CHLN, Centro Académico de Medicina de Lisboa
  • Teresa Bandeira Unidade de Pneumologia Pediátrica, Departamento de Pediatria, HSM-CHLN. Faculdade de Medicina da Universidade de Lisboa. Centro Académico de Medicina de Lisboa
  • Luísa Pereira Unidade de Pneumologia Pediátrica, Departamento de Pediatria, HSM-CHLN, Centro Académico de Medicina de Lisboa

Abstract

Primary ciliary dyskinesia is a rare genetic disease caused by defects in the beating pattern and in the structure of cilia, resulting in chronic respiratory and otorhinolaryngologic disease in both children and adults. The diagnosis is complex and has recently been reviewed by different groups. It is reached through a panel of screening and diagnosis that includes nasal nitric oxide measurement, ciliary structure analysis with electron microscopy, ciliary beat analysis with high speed videomicroscopy, and genetic testing. There is no specific treatment and the standards of care are based on the management of patients with bronchiectasis. Due to its complexity and multidisciplinarity, this condition should be managed by experienced specialized centres. For these reasons, the authors believe it to be pertinent to review the current evidence and the international guidelines regarding diagnosis, follow-up and treatment of patients with primary ciliary dyskinesia.

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Author Biography

Rodrigo Sousa, Departamento de Pediatria Hospital Beatriz Ângelo Loures
Editor da Acta Pediátrica Portuguesa desde 2014
Published
2018-11-06
Section
Review articles