Revital Abitbul1, Israel Amirav2, Hannah Blau3, Soliman Alkrinawi4, Micha Aviram4, David Shoseyov5, Lea Bentur6, Avraham Avital5, Chaim Springer5, Moran Lavie7, Dario Prais3, Husein Dabbah8, Nael Elias9, Arnon Elizur10, Shmuel Goldberg11, Avigdor Hevroni5, Eitan Kerem5, Anthony Luder1, Yehudah Roth12, Malena Cohen-Cymberknoh5, Marta Ben Ami1, Avigdor Mandelberg12, Galit Livnat13, Elie Picard11, Joseph Rivlin13, Moshe Rotschild6, Ruth Soferman14, Niki T Loges15, Heike Olbrich15, Claudius Werner15, Alexander Wolter15, Martina Herting15, Julia Wallmeier15, Johanna Raidt15, Heymut Omran15, Huda Mussaffi16. 1. Department of Pediatrics, Ziv Medical Center and Faculty of Medicine, Bar IIan University, Safed, Israel. 2. Department of Pediatrics, Ziv Medical Center and Faculty of Medicine, Bar IIan University, Safed, Israel; Department of Pediatrics, University of Alberta T6G 2R3, Edmonton, Canada. 3. Pediatric Pulmonary Institute, Schneider Children's Medical Center of Israel, Petach Tikva, Israel; Sackler Faculty of Medicine, Tel Aviv University, Israel. 4. Soroka Medical Center, Beer Sheva, Israel. 5. Institute of Pulmonology, Hadassah-Hebrew University Medical Centers, Jerusalem, Israel. 6. Rambam Medical Center, Haifa, Israel. 7. Edmond & Lili Safra Children's Hospital, Chaim Sheba Medical Center, Israel. 8. Western Galilee Hospital, Nahariya and Faculty of Medicine, Bar IIan University, Safed, Israel. 9. Saint Vincent De-Paul Hospital, Nazareth, Israel. 10. Assaf Harofeh Medical Center, Zerifin, Israel. 11. Shaare Zedek Medical Center, Jerusalem, Israel. 12. The Edith Wolfson Medical Center, Holon and Sackler Faculty of Medicine, Tel Aviv University, Israel. 13. Carmel Medical Center, Haifa, Israel. 14. Dana Children's Hospital, Tel-Aviv Sourasky Medical Center, Israel. 15. Department of General Pediatrics, University Children's Hospital Muenster, Muenster, Germany. 16. Pediatric Pulmonary Institute, Schneider Children's Medical Center of Israel, Petach Tikva, Israel; Sackler Faculty of Medicine, Tel Aviv University, Israel. Electronic address: hmussaffi@clalit.org.il.
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.
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 PCDpatients: 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.
Authors: Mary Anne Kowal Olm; Fernando Augusto Lima Marson; Rodrigo Abensur Athanazio; Naomi Kondo Nakagawa; Mariangela Macchione; Niki Tomas Loges; Heymut Omran; Samia Zahi Rached; Carmen Sílvia Bertuzzo; Rafael Stelmach; Paulo Hilário Nascimento Saldiva; José Dirceu Ribeiro; Marcus Herbert Jones; Thais Mauad Journal: Sci Rep Date: 2019-06-18 Impact factor: 4.379
Authors: Florian Gahleitner; James Thompson; Claire L Jackson; Jana F Hueppe; Laura Behan; Eleonora Dehlink; Myrofora Goutaki; Florian Halbeisen; Ana Paula L Queiroz; Guillaume Thouvenin; Claudia E Kuehni; Philipp Latzin; Jane S Lucas; Bruna Rubbo Journal: ERJ Open Res Date: 2021-11-29