TY - JOUR
T1 - Primary ciliary dyskinesia in Israel
T2 - Prevalence, clinical features, current diagnosis and management practices
AU - Abitbul, Revital
AU - Amirav, Israel
AU - Blau, Hannah
AU - Alkrinawi, Soliman
AU - Aviram, Micha
AU - Shoseyov, David
AU - Bentur, Lea
AU - Avital, Avraham
AU - Springer, Chaim
AU - Lavie, Moran
AU - Prais, Dario
AU - Dabbah, Husein
AU - Elias, Nael
AU - Elizur, Arnon
AU - Goldberg, Shmuel
AU - Hevroni, Avigdor
AU - Kerem, Eitan
AU - Luder, Anthony
AU - Roth, Yehudah
AU - Cohen-Cymberknoh, Malena
AU - Ben Ami, Marta
AU - Mandelberg, Avigdor
AU - Livnat, Galit
AU - Picard, Elie
AU - Rivlin, Joseph
AU - Rotschild, Moshe
AU - Soferman, Ruth
AU - Loges, Niki T.
AU - Olbrich, Heike
AU - Werner, Claudius
AU - Wolter, Alexander
AU - Herting, Martina
AU - Wallmeier, Julia
AU - Raidt, Johanna
AU - Omran, Heymut
AU - Mussaffi, Huda
N1 - Publisher Copyright:
© 2016 Elsevier Ltd
PY - 2016/10/1
Y1 - 2016/10/1
N2 - 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.
AB - 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.
KW - Clinical features
KW - Diagnosis
KW - National study
KW - PCD
KW - Prevalence
KW - Therapy
UR - http://www.scopus.com/inward/record.url?scp=84983627426&partnerID=8YFLogxK
U2 - 10.1016/j.rmed.2016.08.015
DO - 10.1016/j.rmed.2016.08.015
M3 - Article
C2 - 27692146
AN - SCOPUS:84983627426
SN - 0954-6111
VL - 119
SP - 41
EP - 47
JO - Respiratory Medicine
JF - Respiratory Medicine
ER -
