Evaluation of the Clinical and Genetic Characteristics of Primary Ciliary Dyskinesia Patients With Situs Inversus Totalis

IF 1.6 4区医学 Q4 DEVELOPMENTAL BIOLOGY Birth Defects Research Pub Date : 2025-02-04 DOI:10.1002/bdr2.2444

Feyza Ustabas Kahraman, Uzeyir Jafarov, Hakan Yazan, Ismail Yurtsever, Erkan Cakir, Gozde Yesil Sayin

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Abstract

Background

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.

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来源期刊

Birth Defects Research Medicine-Embryology

CiteScore

3.60

自引率

9.50%

发文量

153

期刊介绍： The journal Birth Defects Research publishes original research and reviews in areas related to the etiology of adverse developmental and reproductive outcome. In particular the journal is devoted to the publication of original scientific research that contributes to the understanding of the biology of embryonic development and the prenatal causative factors and mechanisms leading to adverse pregnancy outcomes, namely structural and functional birth defects, pregnancy loss, postnatal functional defects in the human population, and to the identification of prenatal factors and biological mechanisms that reduce these risks. Adverse reproductive and developmental outcomes may have genetic, environmental, nutritional or epigenetic causes. Accordingly, the journal Birth Defects Research takes an integrated, multidisciplinary approach in its organization and publication strategy. The journal Birth Defects Research contains separate sections for clinical and molecular teratology, developmental and reproductive toxicology, and reviews in developmental biology to acknowledge and accommodate the integrative nature of research in this field. Each section has a dedicated editor who is a leader in his/her field and who has full editorial authority in his/her area.