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Primary ciliary dyskinesia [J Dr Behcet Uz Child Hosp]
J Dr Behcet Uz Child Hosp. 2015; 5(1): 10-13 | DOI: 10.5222/buchd.2015.010  

Primary ciliary dyskinesia

Demet Can
Behçet Uz Children Hospital, Department Of Allergy

Primary ciliary dyskinesia (PCD) is a an autosomal recessive disease affecting approximately 1 in 15,000–20,000 individuals. There have been many advances in the diagnosis and management of PCD in the last few years, including advanced genetic sequencing, nasal nitric oxide assay, and ciliary motility tests. This review focuses on the clinical features of ciliary dyskinesias, screening, diagnostic tests, and management.

Keywords: Primary ciliary dyskinesia, nasal nitric oxide, diagnosis


Primer Silyer Diskinezi

Demet Can
İzmir Dr. Behçet Uz Çocuk Hastalıkları Ve Cerrahisi Eğitim Ve Araştırma Hastanesi, Çocuk Allerji Kliniği

Primer silyer diskinezi; 15 000-20 000 de 1 görülen otozomal resesif bir oto-sino-pulmoner hastalıktır. Son yıllarda başta genetik analizler, nazal nitrik oksit ve silyer motilite testleri olmak üzere tanı ve izlemde yenilikler olmuştır. Bu derleme silyer diskinezilerin klinik özellikleri, tarama testleri, tanı ve tedavisine odaklanmıştır.

Anahtar Kelimeler: Primer silyer diskinezi, nazal nitrik oksit, diagnosis


Demet Can. Primary ciliary dyskinesia. J Dr Behcet Uz Child Hosp. 2015; 5(1): 10-13

Corresponding Author: Demet Can, Türkiye


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