Primary ciliary dyskinesia in Israel: Prevalence, clinical features, current diagnosis and management practices. (October 2016)

• Record Type: Journal Article
• Authors: Abitbul, Revital; Amirav, Israel; Blau, Hannah; Alkrinawi, Soliman; Aviram, Micha; Shoseyov, David; Bentur, Lea; Avital, Avraham; Springer, Chaim; Lavie, Moran; Prais, Dario; Dabbah, Husein; Elias, Nael; Elizur, Arnon; Goldberg, Shmuel; Hevroni, Avigdor; Kerem, Eitan; Luder, Anthony; Roth, Yehudah; Cohen-Cymberknoh, Malena; Ben Ami, Marta; Mandelberg, Avigdor; Livnat, Galit; Picard, Elie; Rivlin, Joseph; Rotschild, Moshe; Soferman, Ruth; Loges, Niki T.; Olbrich, Heike; Werner, Claudius; Wolter, Alexander; Herting, Martina; Wallmeier, Julia; Raidt, Johanna; Omran, Heymut; Mussaffi, Huda;
• Is Part Of: Respiratory medicine. Volume 119(2016)
• Page Start: 41
• Page End: 47
• Publication Date: 2016-10
• Subjects: PCD -- National study -- Diagnosis -- Therapy -- Clinical features -- Prevalence; PCD primary ciliary dyskinesia -- nNO nasal nitric oxide -- TEM transmission electron microscopy -- HVMA high-speed video-microscopy analysis -- IF immunofluorescence; Chest -- Diseases -- Periodicals; Chest -- Diseases -- Great Britain -- Periodicals; Respiratory organs -- Diseases -- Periodicals; Respiratory Tract Diseases -- Periodicals; Appareil respiratoire -- Maladies -- Périodiques; Thorax -- Maladies -- Périodiques; Appareil respiratoire -- Maladies -- Traitement -- Périodiques; Electronic journals; 616.2
• DOI: 10.1016/j.rmed.2016.08.015
• Languages: English
• ISSNs: 0954-6111

Abstract

Abstract: 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. Highlights: Prevalence of PCD in Israel was determined using a comprehensive battery of diagnostic tests. PCD prevalence was higher in the non-Jewish population than in the Jewish population in Israel. First detailed report on the demographics and clinical features for PCD in Israel.