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

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dc.authorscopusidErkan Çakır / 15757040700
dc.authorwosidErkan Çakır / LJD-9252-2024
dc.contributor.authorKahraman, Feyza Ustabaş
dc.contributor.authorJafarov, Uzeyir
dc.contributor.authorYazan, Hakan
dc.contributor.authorYurtsever, İsmail
dc.contributor.authorÇakır, Erkan
dc.contributor.authorSayın, Gözde Yeşil
dc.date.accessioned2025-04-18T06:49:58Z
dc.date.available2025-04-18T06:49:58Z
dc.date.issued2025
dc.departmentİstinye Üniversitesi, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü
dc.description.abstractBackgroundSitus 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. MethodsThe 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. ResultsThe 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). ConclusionsSitus 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.citationBackgroundSitus 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. MethodsThe 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. ResultsThe 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). ConclusionsSitus 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.doi10.1002/bdr2.2444
dc.identifier.issn2472-1727
dc.identifier.issue2
dc.identifier.scopus2-s2.0-85216955385
dc.identifier.scopusqualityQ2
dc.identifier.urihttp://dx.doi.org/10.1002/bdr2.2444
dc.identifier.urihttps://hdl.handle.net/20.500.12713/6377
dc.identifier.volume117
dc.identifier.wosWOS:001413717100001
dc.identifier.wosqualityQ4
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.institutionauthorÇakır, Erkan
dc.institutionauthoridErkan Çakır / 0000-0002-1438-7854
dc.language.isoen
dc.publisherJohn wiley and sons inc
dc.relation.ispartofBirth defects research
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı
dc.rightsinfo:eu-repo/semantics/closedAccess
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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