Analysis of Clinical Characteristics and Gene Variants Associated with Primary Ciliary Dyskinesia
| Author | Qionghua Chen | en |
| Author | Jingyang Zheng | en |
| Author | lie Zeng | en |
| Author | Liduan Su | en |
| Author | Chunyan Lin | en |
| Author | Dongyi Pan | en |
| Orcid | Qionghua Chen [0000-0002-5684-3379] | en |
| Issued Date | 2023-10-31 | en |
| Abstract | Background: Primary ciliary dyskinesia (PCD) is considered a monogenic heterogeneous recessive disorder. Objectives: This study aimed to identify clinical characteristics and gene mutations in children with PCD admitted to Quanzhou Women’s and Children’s hospital in China from January 2019 to January 2022. Methods: Clinical manifestations, lung imaging, transmission electron microscopy (TEM) findings, and genetic test results were analyzed in this study. Results: For 8 patients, PCD manifestations included asthma, total visceral inversion, secretory otitis media, adenoid hypertrophy, gastroesophageal reflux, intestinal malrotation with midgut torsion, and bronchiectasis. Primary ciliary dyskinesia-associated gene variants included DNAH11, DNAH5, RSPH4A, and CFAP300. Novel variants of DNAH11 (c.5460 + 5G > C, c.11749_11752delGTTA, and c.5822G > C), DNAH5 (c.4314delT and c.877dupA), RSPH4A (c.1774_1775delTT and c.1949A > G), and CFAP300 (c.603delG) were found in these children. Conclusions: Recurrent cough, expectoration, purulent discharge, bronchiectasis, and visceral inversion provide clues for diagnosing early-onset PCD. Transmission electron microscopy and genetic testing improve early diagnosis, treatment delivery, and prognosis. Novel genotypes identified in this study expand the PCD genotypic spectrum. | en |
| DOI | https://doi.org/10.5812/ijp-132964 | en |
| URI | https://brieflands.com/journals/ijp/articles/132964 | en |
| Keyword | Clinical Characteristics | en |
| Keyword | Gene | en |
| Keyword | Mutation | en |
| Keyword | Primary Ciliary Dyskinesia | en |
| Keyword | Children | en |
| Publisher | Brieflands | en |
| Title | Analysis of Clinical Characteristics and Gene Variants Associated with Primary Ciliary Dyskinesia | en |
| Type | Research Article | en |