Primary ciliary dyskinesia in Israel: Prevalence, clinical features, current diagnosis and management practices

Revital Abitbul, Israel Amirav, Hannah Blau, Soliman Alkrinawi, Micha Aviram, David Shoseyov, Lea Bentur, Avraham Avital, Chaim Springer, Moran Lavie, Dario Prais, Husein Dabbah, Nael Elias, Arnon Elizur, Shmuel Goldberg, Avigdor Hevroni, Eitan Kerem, Anthony Luder, Yehudah Roth, Malena Cohen-CymberknohMarta Ben Ami, Avigdor Mandelberg, Galit Livnat, Elie Picard, Joseph Rivlin, Moshe Rotschild, Ruth Soferman, Niki T. Loges, Heike Olbrich, Claudius Werner, Alexander Wolter, Martina Herting, Julia Wallmeier, Johanna Raidt, Heymut Omran, Huda Mussaffi

Research output: Contribution to journalArticlepeer-review

7 Scopus citations


Background Primary Ciliary Dyskinesia (PCD) is rare and its features in Israel have not been described. Aims to assess prevalence utilizing state-of-the-art diagnostic techniques, and describe clinical features, diagnostic and management practices in Israel. Methods A national multicenter study from 2012 to 2013 recruited patients diagnosed or suspected of having PCD. Diagnosis was verified using: nasal Nitric Oxide (nNO); High-speed Video Microscope Analysis (HVMA); Transmission Electron Microscopy (TEM) of cilia; Immuno-fluorescence staining (IF) for ciliary proteins, and genetic analysis. Results Of the 203 patients recruited from 14 pediatric centers, 150 had a PCD diagnosis verified. Median age was 15.05y, with range 0.15–60.5y. PCD prevalence was 1:54,000 for the general population and 1:25,000 in children (5-14 y). For the non-Jewish (mainly Druze and Arab Moslem) compared to Jewish populations, prevalence was 1:16,500 and 1:139,000 respectively (p < 0.0001) and parental consanguinity was 85.4% and 21.9% respectively (p < 0.0001). Clinical features included bronchiectasis (88%), rhinitis (81%), recurrent pneumonia (78%), recurrent otitis (62%), neonatal pneumonia (60%) and situs inversus (42%). Prior diagnostic practices varied widely between centers with TEM assessed in 55% and abnormal in 61% of these. Management included antibiotics and airway clearance. Diagnostic verification revealed for 150 PCD patients: 81% nNO<233 ppb, 62% abnormal HVMA, 51% diagnostic TEM, 58% diagnostic IF and, 57% genetic diagnosis. Conclusions PCD in Israel is rare, with comprehensive diagnostic tests showing prevalence in children similar to Europe. Prevalence was higher in non-Jews, associated with parental consanguinity. Diagnostic and management practices vary. Referral centers providing comprehensive diagnostic and care capabilities should be established.

Original languageEnglish
Pages (from-to)41-47
Number of pages7
JournalRespiratory Medicine
StatePublished - 1 Oct 2016
Externally publishedYes


  • Clinical features
  • Diagnosis
  • National study
  • PCD
  • Prevalence
  • Therapy

ASJC Scopus subject areas

  • Pulmonary and Respiratory Medicine


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