Primary ciliary dyskinesia in Israel: Prevalence, clinical features, current diagnosis and management practices.
Primary Ciliary Dyskinesia (PCD) is rare and its features in Israel have not been described.



to assess prevalence utilizing state-of-the-art diagnostic techniques, and describe clinical features, diagnostic and management practices in Israel.



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.



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.



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.
Department of Pediatrics, Ziv Medical Center and Faculty of Medicine, Bar IIan University, Safed, Israel.
Revital
R
Abitbul
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.
Israel
I
Amirav
Pediatric Pulmonary Institute, Schneider Children's Medical Center of Israel, Petach Tikva, Israel; Sackler Faculty of Medicine, Tel Aviv University, Israel.
Hannah
H
Blau
Soroka Medical Center, Beer Sheva, Israel.
Soliman
S
Alkrinawi
Soroka Medical Center, Beer Sheva, Israel.
Micha
M
Aviram
Institute of Pulmonology, Hadassah-Hebrew University Medical Centers, Jerusalem, Israel.
David
D
Shoseyov
Rambam Medical Center, Haifa, Israel.
Lea
L
Bentur
Institute of Pulmonology, Hadassah-Hebrew University Medical Centers, Jerusalem, Israel.
Avraham
A
Avital
Institute of Pulmonology, Hadassah-Hebrew University Medical Centers, Jerusalem, Israel.
Chaim
C
Springer
Edmond & Lili Safra Children's Hospital, Chaim Sheba Medical Center, Israel.
Moran
M
Lavie
Pediatric Pulmonary Institute, Schneider Children's Medical Center of Israel, Petach Tikva, Israel; Sackler Faculty of Medicine, Tel Aviv University, Israel.
Dario
D
Prais
Western Galilee Hospital, Nahariya and Faculty of Medicine, Bar IIan University, Safed, Israel.
Husein
H
Dabbah
Saint Vincent De-Paul Hospital, Nazareth, Israel.
Nael
N
Elias
Assaf Harofeh Medical Center, Zerifin, Israel.
Arnon
A
Elizur
Shaare Zedek Medical Center, Jerusalem, Israel.
Shmuel
S
Goldberg
Institute of Pulmonology, Hadassah-Hebrew University Medical Centers, Jerusalem, Israel.
Avigdor
A
Hevroni
Institute of Pulmonology, Hadassah-Hebrew University Medical Centers, Jerusalem, Israel.
Eitan
E
Kerem
Department of Pediatrics, Ziv Medical Center and Faculty of Medicine, Bar IIan University, Safed, Israel.
Anthony
A
Luder
The Edith Wolfson Medical Center, Holon and Sackler Faculty of Medicine, Tel Aviv University, Israel.
Yehudah
Y
Roth
Institute of Pulmonology, Hadassah-Hebrew University Medical Centers, Jerusalem, Israel.
Malena
M
Cohen-Cymberknoh
Department of Pediatrics, Ziv Medical Center and Faculty of Medicine, Bar IIan University, Safed, Israel.
Marta
M
Ben Ami
The Edith Wolfson Medical Center, Holon and Sackler Faculty of Medicine, Tel Aviv University, Israel.
Avigdor
A
Mandelberg
Carmel Medical Center, Haifa, Israel.
Galit
G
Livnat
Shaare Zedek Medical Center, Jerusalem, Israel.
Elie
E
Picard
Carmel Medical Center, Haifa, Israel.
Joseph
J
Rivlin
Rambam Medical Center, Haifa, Israel.
Moshe
M
Rotschild
Dana Children's Hospital, Tel-Aviv Sourasky Medical Center, Israel.
Ruth
R
Soferman
Department of General Pediatrics, University Children's Hospital Muenster, Muenster, Germany.
Niki T
NT
Loges
Department of General Pediatrics, University Children's Hospital Muenster, Muenster, Germany.
Heike
H
Olbrich
Department of General Pediatrics, University Children's Hospital Muenster, Muenster, Germany.
Claudius
C
Werner
Department of General Pediatrics, University Children's Hospital Muenster, Muenster, Germany.
Alexander
A
Wolter
Department of General Pediatrics, University Children's Hospital Muenster, Muenster, Germany.
Martina
M
Herting
Department of General Pediatrics, University Children's Hospital Muenster, Muenster, Germany.
Julia
J
Wallmeier
Department of General Pediatrics, University Children's Hospital Muenster, Muenster, Germany.
Johanna
J
Raidt
Department of General Pediatrics, University Children's Hospital Muenster, Muenster, Germany.
Heymut
H
Omran
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.
Huda
H
Mussaffi
D000293:Adolescent; D000328:Adult; D002648:Child; D002923:Cilia / Q000235:genetics / Q000276:immunology* / Q000648:ultrastructure; D005260:Female; D006801:Humans; D007557:Israel / Q000453:epidemiology; D007619:Kartagener Syndrome / Q000175:diagnosis* / Q000453:epidemiology* / Q000208:ethnology / Q000628:therapy; D008297:Male; D046529:Microscopy, Electron, Transmission / Q000379:methods; D009569:Nitric Oxide / Q000378:metabolism; D015995:Prevalence; D011446:Prospective Studies; D055815:Young Adult
D009569:Nitric Oxide
Clinical features; Diagnosis; National study; PCD; Prevalence; Therapy