Primary Ciliary Dyskinesia (PCD) in Israel: Prevalence, Clinical features, Current Diagnosis and Management Practices.

Huda Georgy Mussaffi ¹ Revital Abitbul ² Heymut Omran ³ David Shoseyov ⁴ Micha Aviram ⁵ Husein Dabbah ⁷ Nael Elias ⁶ Arnon Elizur ⁸ Avigdor Hevroni ⁹ Moran Lavie ¹⁰ Galit Livnat ¹¹ Avigdor Mandelberg ¹² Ruth Soferman ¹³ Ellie Picard ¹⁴ Bentur Lea ¹⁵ Israel Amirav ¹⁶

¹Pulmonary Institute, Schneider Children's Medical Center of Israel and Tel-Aviv-University
²Pediatric Department, Ziv Medical Center, Faculty of Medicine, Bar IIan University
³Department of General Pediatrics,, University Children’s Hospital Muenster, Germany
⁴Institute of Pulmonology, Hadassah-Hebrew University Medical Centers, Jerusalem
⁵Pulmonary Unit, Soroka Medical Center
⁶pediatric Department, Saint Vincent De-Paul Hospital
⁷Pediatric department, Western Galilee Hospital
⁸Pediatric Department, Assaf Harofeh Medical Center,, ISRAEL
⁹Pulmonary Institute, Hadassah-Hebrew University Medical Center
¹⁰Pulmonary Unit, Edmond & Lili Safra Children's Hospital, Sheba Medical Center,
¹¹Pulmonary Unit, Carmel Medical Center
¹²Pediatric Department, Wolfson Medical Center
¹³Pulmonary Institute, Dana Medical Center
¹⁴Pulmonary Unit, Shaaree Zedek Medical center
¹⁵Pulmonary Unit, Rambam Medical center
¹⁶Pediatric department, Ziv Medical Center, Faculty of Medicine, Bar IIan University

Background: PCD is a rare, under-diagnosed disease. There is scarce data concerning prevalence, current diagnosis and management practices of PCD patients in Israel. Aims: To characterize the clinical features and prevalence of PCD patients in Israel and describe the current diagnostic and management practices for PCD in Israel. Methods: Patients diagnosed or suspected to have PCD were recruited from 14 pediatric pulmonology medical centers. Each subject completed a PCD questionnaire and performed diagnostic tests to confirm PCD: nasal Nitric Oxide measurement; Transmission Electron Microscopy of ciliary ultrastructure; High-speed Video Microscope Analysis for functional studies; Immuno-fluorescence staining for structural ciliary proteins and genetic analysis. Results: From 14 centers, 209 patients were enrolled. PCD was verified in 138 patients, median age 15 years (range 0.15-67 years). The prominent clinical presentations reported were bronchiectasis, rhinitis, recurrent pneumonia, recurrent otitis, neonatal respiratory pneumonia and situs inversus (44%). Parental consanguinity was reported in 87% and 24% in the non-Jewish and Jewish population respectively (P<0.0001). The prevalence of PCD in Israel is 1:59,000 for the general population and 1:25,000 in children (5-14 y). Prevalence in the Jewish and non-Jewish population is ~ 1:153,000 and ~1:18,000 respectively. Conclusions: PCD prevalence in Israel is similar to the published prevalence rate in the pediatric group in Europe, but less in the adult group. The prevalence of PCD is much higher in the non-Jewish population which is probably attributed to the high level of consanguinity in this population. The technology for screening and specific diagnostic tests do not exist in all centers. Management of PCD in Israel is mostly based on CF treatment protocols.