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

被引：9

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 [J].

American Thoracic Society ;

European Respiratory Society .

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 [J].

Amirav I. ;

Mussaffi H. ;

Roth Y. ;

Schmidts M. ;

Omran H. ;

Werner C. .

BMC Research Notes, 8 (1)

[3] Primary ciliary dyskinesia: a consensus statement on diagnostic and treatment approaches in children [J].

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. .

EUROPEAN RESPIRATORY JOURNAL, 2009, 34 (06) :1264-1276

[4] PICADAR: a diagnostic predictive tool for primary ciliary dyskinesia [J].

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. .

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 [J].

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 .

ORPHANET JOURNAL OF RARE DISEASES, 2014, 9

[6] Presentation of primary ciliary dyskinesia in children: 30 years' experience [J].

Hosie, Patrick H. ;

Fitzgerald, Dominic A. ;

Jaffe, Adam ;

Birman, Catherine S. ;

Rutland, Jonathan ;

Morgan, Lucy C. .

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 [J].

Knowles, Michael R. ;

Daniels, Leigh Anne ;

Davis, Stephanie D. ;

Zariwala, Maimoona A. ;

Leigh, Margaret W. .

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 [J].

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. .

EUROPEAN RESPIRATORY JOURNAL, 2010, 36 (06) :1248-1258

[10] Clinical Features and Associated Likelihood of Primary Ciliary Dyskinesia in Children and Adolescents [J].

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. .

ANNALS OF THE AMERICAN THORACIC SOCIETY, 2016, 13 (08) :1305-1313

← 1 2 3 →