Evaluation of the clinical and genetic characteristics of primary ciliary dyskinesia patients with situs inversus totalis

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dc.contributor.authorUstabaş Kahraman, Feyza
dc.contributor.authorJafarov, Üzeyir
dc.contributor.authorYazan, Hakan
dc.contributor.authorYurtsever, İsmail
dc.contributor.authorÇakır, Erkan
dc.contributor.authorYeşil Sayın, Gözde
dc.date.accessioned2026-05-14T09:38:13Z
dc.date.available2026-05-14T09:38:13Z
dc.date.issued2025
dc.departmentİstanbul Medipol Üniversitesi, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, Çocuk Sağlığı ve Hastalıkları Ana Bilim Dalı
dc.description.abstractBackground: Situs inversus totalis (SIT) is present in approximately 40%–50% of patients with primary ciliary dyskinesia (PCD). We evaluated the relationships between novel genetic results and the clinical and radiological characteristics of PCD patients with SIT. Methods: The study included 48 patients diagnosed with PCD and SIT. Demographic and clinical features, disease-related scores (Bhalla, Primary Ciliary Dyskinesia Rule [PICADAR], and American Thoracic Society [ATS]), and genetic analyses were retrospectively assessed. Results: The median age of patients was 13 (6.5–16) years, and parental consanguinity was observed in 43 (89.58%) patients. Bhalla score was available in 31 patients and “moderate and severe” score was observed in 19 (61.29%) patients. The median PICADAR score was 10 (8–11), and 34 (70.83%) patients had a high (≥ 10) PICADAR score. The ATS score was found to be 4 in 24 (50%) patients and 3 in 20 (43.75%) patients. Genetic data were available in 40 patients and mutations were found in 27 (67.5%) patients. The most common pathogenic variants were DNAH5 in 8 (20%), CCDC103 in 4 (10%), and CCDC39 in 3 (7.5%) patients. Subjects with any genetic variants may be older, have a greater frequency of parental consanguinity, higher Bhalla score, and higher ATS score (p < 0.05). DNAH5 mutation was associated with a lower likelihood of neonatal ICU stay and neonatal respiratory distress-related symptoms (p = 0.036 and 0.015, respectively). Conclusions: Situs abnormalities may be a warning sign for the early diagnosis of PCD. Early diagnosis of PCD through genetic analysis is important for preventing chronic lung pathologies and predicting prognosis and may improve the quality of life.
dc.identifier.citationUstabaş Kahraman, F., Jafarov, Ü., Yazan, H., Yurtsever, İ., Çakır, E. ve Yeşil Sayın, G. (2025). Evaluation of the clinical and genetic characteristics of primary ciliary dyskinesia patients with situs inversus totalis. Birth Defects Research, 117(2). http://dx.doi.org/10.1002/bdr2.2444
dc.identifier.doi10.1002/bdr2.2444
dc.identifier.issn2472-1727
dc.identifier.issue2
dc.identifier.pmid39902670
dc.identifier.scopus2-s2.0-85216955385
dc.identifier.urihttp://dx.doi.org/10.1002/bdr2.2444
dc.identifier.urihttps://hdl.handle.net/20.500.12511/13449
dc.identifier.volume117
dc.identifier.wosWOS:001413717100001
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.institutionauthorUstabaş Kahraman, Feyza
dc.institutionauthorYazan, Hakan
dc.institutionauthorid0000-0003-3842-7723
dc.institutionauthorid0000-0002-7680-4000
dc.language.isoen
dc.relation.ispartofBirth Defects Research
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı
dc.rightsinfo:eu-repo/semantics/embargoedAccess
dc.subjectGenetic Testing
dc.subjectPICADAR
dc.subjectPrimary Ciliary Dyskinesia
dc.subjectSitus Inversus
dc.titleEvaluation of the clinical and genetic characteristics of primary ciliary dyskinesia patients with situs inversus totalis
dc.typeArticle

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