Primary ciliary dyskinesia in Israel: Prevalence, clinical features, current diagnosis and management practices

被引：8

作者：

Abitbul, Revital ^{[1
,2
]}

Amirav, Israel ^{[1
,2
,3
]}

Blau, Hannah ^{[4
,5
]}

Alkrinawi, Soliman ^{[6
]}

Aviram, Micha ^{[6
]}

Shoseyov, David ^{[7
]}

Bentur, Lea ^{[8
]}

Avital, Avraham ^{[7
]}

Springer, Chaim ^{[7
]}

Lavie, Moran ^{[9
]}

Prais, Dario ^{[4
,5
]}

Dabbah, Husein ^{[10
]}

Elias, Nael ^{[11
]}

Elizur, Arnon ^{[12
]}

Goldberg, Shmuel ^{[13
]}

Hevroni, Avigdor ^{[7
]}

Kerem, Eitan ^{[7
]}

Luder, Anthony ^{[1
,2
]}

Roth, Yehudah ^{[14
]}

Cohen-Cymberknoh, Malena ^{[7
]}

Ben Ami, Marta ^{[1
,2
]}

Mandelberg, Avigdor ^{[14
]}

Livnat, Galit ^{[15
]}

Picard, Elie ^{[13
]}

Rivlin, Joseph ^{[15
]}

Rotschild, Moshe ^{[8
]}

Soferman, Ruth ^{[16
]}

Loges, Niki T. ^{[17
]}

Olbrich, Heike ^{[17
]}

Werner, Claudius ^{[17
]}

Wolter, Alexander ^{[17
]}

Herting, Martina ^{[17
]}

Wallmeier, Julia ^{[17
]}

Raidt, Johanna ^{[17
]}

Omran, Heymut ^{[17
]}

Mussaffi, Huda ^{[4
,5
]}

机构：

[1] Bar Ilan Univ, Dept Pediat, Ziv Med Ctr, Safed, Israel

[2] Bar Ilan Univ, Fac Med, Safed, Israel

[3] Univ Alberta, Dept Pediat, Edmonton, AB T6G 2R3, Canada

[4] Schneider Childrens Med Ctr Israel, Pediat Pulm Inst, IL-49202 Petah Tiqwa, Israel

[5] Tel Aviv Univ, Sackler Fac Med, IL-69978 Tel Aviv, Israel

[6] Soroka Med Ctr, Beer Sheva, Israel

[7] Hadassah Hebrew Univ, Med Ctr, Inst Pulmonol, Jerusalem, Israel

[8] Rambam Med Ctr, Haifa, Israel

[9] Edmond & Lili Safra Childrens Hosp, Chaim Sheba Med Ctr, Tel Hashomer, Israel

[10] Bar Ilan Univ, Nahariya & Fac Med, Western Galilee Hosp, Safed, Israel

[11] St Vincent De Paul Hosp, Nazareth, Israel

[12] Assaf Harofeh Med Ctr, Zerifin, Israel

[13] Shaare Zedek Med Ctr, Jerusalem, Israel

[14] Tel Aviv Univ, Holon & Sackler Fac Med, Edith Wolfson Med Ctr, IL-69978 Tel Aviv, Israel

[15] Carmel Hosp, Haifa, Israel

[16] Tel Aviv Sourasky Med Ctr, Dana Childrens Hosp, Tel Aviv, Israel

[17] Univ Childrens Hosp Muenster, Dept Gen Pediat, Munster, Germany

来源：

RESPIRATORY MEDICINE | 2016年 / 119卷

关键词：

PCD; National study; Diagnosis; Therapy; Clinical features; Prevalence; CHILDREN;

D O I：

10.1016/j.rmed.2016.08.015

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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. (C) 2016 Elsevier Ltd. All rights reserved.

引用

页码：41 / 47

页数：7

共 25 条

[1] ATS/ERS recommendations for standardized procedures for the online and offline measurement of exhaled lower respiratory nitric oxide and nasal nitric oxide, 2005
American Thoracic Society
European Respiratory Society
[J]. AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE, 2005, 171 (08) : 912 - 930
[2] A reach-out system for video microscopy analysis of ciliary motions aiding PCD diagnosis
Amirav I.
Mussaffi H.
Roth Y.
Schmidts M.
Omran H.
Werner C.
[J]. BMC Research Notes, 8 (1)
[3] Primary ciliary dyskinesia: a consensus statement on diagnostic and treatment approaches in children
Barbato, A.
Frischer, T.
Kuehni, C. E.
Snijders, D.
Azevedo, I.
Baktai, G.
Bartoloni, L.
Eber, E.
Escribano, A.
Haarman, E.
Hesselmar, B.
Hogg, C.
Jorissen, M.
Lucas, J.
Nielsen, K. G.
O'Callaghan, C.
Omran, H.
Pohunek, P.
Strippoli, M-P. F.
Bush, A.
[J]. EUROPEAN RESPIRATORY JOURNAL, 2009, 34 (06) : 1264 - 1276
[4] PICADAR: a diagnostic predictive tool for primary ciliary dyskinesia
Behan, Laura
Dimitrov, Borislav D.
Kuehni, Claudia E.
Hogg, Claire
Carroll, Mary
Evans, Hazel J.
Goutaki, Myrofora
Harris, Amanda
Packham, Samantha
Walker, Woolf T.
Lucas, Jane S.
[J]. EUROPEAN RESPIRATORY JOURNAL, 2016, 47 (04) : 1103 - 1112
[5] Primary ciliary dyskinesia: critical evaluation of clinical symptoms and diagnosis in patients with normal and abnormal ultrastructure
Boon, Mieke
Smits, Anne
Cuppens, Harry
Jaspers, Martine
Proesmans, Marijke
Dupont, Lieven J.
Vermeulen, Francois L.
Van Daele, Sabine
Malfroot, Anne
Godding, Veronique
Jorissen, Mark
De Boeck, Kris
[J]. ORPHANET JOURNAL OF RARE DISEASES, 2014, 9
[6] Presentation of primary ciliary dyskinesia in children: 30 years' experience
Hosie, Patrick H.
Fitzgerald, Dominic A.
Jaffe, Adam
Birman, Catherine S.
Rutland, Jonathan
Morgan, Lucy C.
[J]. JOURNAL OF PAEDIATRICS AND CHILD HEALTH, 2015, 51 (07) : 722 - 726
[7] Jaber L, 1996, ISRAEL J MED SCI, V32, P1286
[8] Primary Ciliary Dyskinesia Recent Advances in Diagnostics, Genetics, and Characterization of Clinical Disease
Knowles, Michael R.
Daniels, Leigh Anne
Davis, Stephanie D.
Zariwala, Maimoona A.
Leigh, Margaret W.
[J]. AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE, 2013, 188 (08) : 913 - 922
[9] Factors influencing age at diagnosis of primary ciliary dyskinesia in European children
Kuehni, C. E.
Frischer, T.
Strippoli, M-P. F.
Maurer, E.
Bush, A.
Nielsen, K. G.
Escribano, A.
Lucas, J. S. A.
Yiallouros, P.
Omran, H.
Eber, E.
O'Callaghan, C.
Snijders, D.
Barbato, A.
[J]. EUROPEAN RESPIRATORY JOURNAL, 2010, 36 (06) : 1248 - 1258
[10] Clinical Features and Associated Likelihood of Primary Ciliary Dyskinesia in Children and Adolescents
Leigh, Margaret W.
Ferkol, Thomas W.
Davis, Stephanie D.
Lee, Hye-Seung
Rosenfeld, Margaret
Dell, Sharon D.
Sagel, Scott D.
Milla, Carlos
Olivier, Kenneth N.
Sullivan, Kelli M.
Zariwala, Maimoona A.
Pittman, Jessica E.
Shapiro, Adam J.
Carson, Johnny L.
Krischer, Jeffrey
Hazucha, Milan J.
Knowles, Michael R.
[J]. ANNALS OF THE AMERICAN THORACIC SOCIETY, 2016, 13 (08) : 1305 - 1313

← 1 2 3 →