The Relationship between Genotype and Phenotype in Primary Ciliary Dyskinesia Patients.
Bronchiectasis
genetic analysis
primary ciliary dyskinesia
situs inversus totalis
Journal
Sisli Etfal Hastanesi tip bulteni
ISSN: 1302-7123
Titre abrégé: Sisli Etfal Hastan Tip Bul
Pays: Turkey
ID NLM: 9424130
Informations de publication
Date de publication:
2021
2021
Historique:
received:
02
05
2020
accepted:
24
06
2020
entrez:
5
8
2021
pubmed:
6
8
2021
medline:
6
8
2021
Statut:
epublish
Résumé
Primary ciliary dyskinesia (PCD) is a chronic genetic disease that affects the respiratory tract, characterized by different clinical and laboratory features. It has a very difficult diagnosis, and high morbidity. In recent years, with the advances in genetics, the rate of diagnosis has increased considerably. In this study, it was aimed to evaluate the relationship between PCD patients' clinical, radiological and laboratory features and genetic analysis. The study included 14 children who were diagnosed with PCD between 2015-2019 and underwent exome analysis. Diagnostic ages, body mass indexes (BMI)- Z score, clinical and radiological findings, pulmonary function tests, sputum culture reproduction and gene analysis were evaluated and compared. Six of the patients (43%) were girls and 8 (57%) were boys, and the median age at the time of diagnosis was 9 (min-max: 3-16) years. Genetic analysis revealed pathogenic mutations in It is thought that more detailed information about the possible clinical features and prognosis of the disease can be obtained by genetic examinations of PCD. However, clinical trials with higher patient numbers are still needed.
Identifiants
pubmed: 34349594
doi: 10.14744/SEMB.2020.22567
pii: MBSEH-55-188
pmc: PMC8298072
doi:
Types de publication
Journal Article
Langues
eng
Pagination
188-192Informations de copyright
Copyright: © 2021 by The Medical Bulletin of Sisli Etfal Hospital.
Déclaration de conflit d'intérêts
Conflict of Interest: None declared.
Références
Clin Chest Med. 2016 Sep;37(3):449-61
pubmed: 27514592
Pediatr Pulmonol. 2020 Feb;55(2):383-393
pubmed: 31765523
Am J Respir Crit Care Med. 2018 Jun 15;197(12):e24-e39
pubmed: 29905515
Ann Am Thorac Soc. 2016 Aug;13(8):1305-13
pubmed: 27070726
Eur Respir J. 2017 Dec 21;50(6):
pubmed: 29269581
Eur Respir J. 2005 Aug;26(2):319-38
pubmed: 16055882
Am J Respir Crit Care Med. 2015 Feb 1;191(3):316-24
pubmed: 25493340
Eur Respir J. 2018 Aug 23;52(2):
pubmed: 30049738
Chest. 2018 Sep;154(3):645-652
pubmed: 29800551
Eur Respir J. 2019 Sep 5;54(3):
pubmed: 31488586
Eur Respir J. 2002 Sep;20(3):539-44
pubmed: 12358326
Am J Respir Crit Care Med. 2006 Jul 15;174(2):120-6
pubmed: 16627867
Ann Am Thorac Soc. 2014 Mar;11(3):351-9
pubmed: 24498942
Eur Respir J. 2016 Apr;47(4):1103-12
pubmed: 26917608
Chest. 2014 Nov;146(5):1176-1186
pubmed: 24577564
Pediatr Pulmonol. 2016 Feb;51(2):115-32
pubmed: 26418604
Pediatr Pulmonol. 2014 Dec;49(12):1243-50
pubmed: 24420929