Primary ciliary dyskinesia in Israel: Prevalence, clinical features, current diagnosis and management practices.
Respir Med
; 119: 41-47, 2016 10.
Article
en En
| MEDLINE
| ID: mdl-27692146
ABSTRACT
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 154,000 for the general population and 125,000 in children (5-14 y). For the non-Jewish (mainly Druze and Arab Moslem) compared to Jewish populations, prevalence was 116,500 and 1139,000 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.Palabras clave
Texto completo:
1
Banco de datos:
MEDLINE
Asunto principal:
Síndrome de Kartagener
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Prevalencia
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Cilios
Tipo de estudio:
Clinical_trials
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Diagnostic_studies
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Observational_studies
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Prevalence_studies
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Risk_factors_studies
Límite:
Adolescent
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Adult
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Child
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Female
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Humans
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Male
País/Región como asunto:
Asia
Idioma:
En
Año:
2016
Tipo del documento:
Article