Kartagener Syndrome (KS) is a rare genetic disorder resulting from autosomal recessive inheritance and is characterised by ciliary dyskinesia. It typically presents with the distinctive triad of chronic sinusitis, situs inversus, and bronchiectasis. KS poses distinct challenges during the perioperative period due to its potential impact on pulmonary function and cardiovascular anatomy. The present case details the successful perioperative management of a 55-year-old male patient with KS who underwent emergency knee-spanning external-fixator application under regional anaesthesia. The patient’s medical history included a chronic diagnosis of bronchiectasis, for which he was on irregular medications. His clinical examination revealed Grade 2 digital clubbing. Auscultation findings included heart sounds auscultated on the right hemithorax, with the apical impulse palpable in the right fourth intercostal space, indicative of dextrocardia associated with situs inversus. Diagnosis of Kartagener syndrome was confirmed with Computed Tomography (CT), which showed the cardiac apex and aortic notch on the right side and bronchiectasis changes predominantly involving the bilateral lower lobes. Given the immediate need for surgery, neuraxial anaesthesia under ultrasound guidance was planned to address the patient’s complex respiratory profile. In this case, employing a combined spinal-epidural anaesthesia technique facilitated effective pain management and haemodynamic stability while minimising the respiratory complications typically associated with general anaesthesia.

The DNAAF11 gene, also known as LRRC6 , follows autosomal recessive inheritance and plays a key role in the assembly of dynein, a protein necessary for the normal functioning of cilia. Mutations in this gene can lead to primary ciliary dyskinesia (PCD), a rare hereditary disease characterized by impaired function of the ciliated epithelium, primarily in the respiratory system but also in other organs. Defects in dynein arms associated with mutations in the DNAAF11 gene disrupt their rhythmic movement, leading to mucus stagnation, chronic inflammatory processes, and increased susceptibility to respiratory tract infections. The aim of this work is to describe the clinical case of a family consisting of a mother and her son, both with a confirmed diagnosis of PCD. The study revealed a mutation in the DNAAF11 gene in both patients: the mother’s was in a homozygous state (NM_012472.6: c.436G>C), and her son’s was in a compound heterozygous state: one NM_012472.6: c.436G>C variant inherited from the mother (not previously described), and the second, NM_012472.6: c.1011A>G, inherited from the father. The child’s diagnosis was confirmed by segregation analysis. Methods. The PCD diagnosis included: molecular genetic analysis, segregation analysis, video microscopy, electron microscopy of the ciliated epithelium, air-liquid interface (ALI) cell culture, and immunofluorescence staining. Conclusion. This clinical case highlights the importance of identifying genetic relationships and features of PCD within families. The newly discovered mutations expand the spectrum of variants in the DNAAF11 gene associated with ciliary defects in PCD and emphasize the need for molecular genetic studies. Early diagnosis contributes to timely treatment initiation, preventing disease progression and improving patients’ quality of life.

ABSTRACT. The article presents a comprehensive analysis of contemporary approaches to the diagnosis of congenital lung malformations and anomalies (CLMAs), which account for 5-18 % of all thoracic organ anomalies. Epidemiological aspects, classification, and morphological features of the most common forms are discussed, including congenital pulmonary airway malformation, pulmonary sequestration, congenital lobar emphysema, bronchogenic cysts, as well as rare anatomical variants such as tracheal bronchus or accessory lung. Attention is drawn to the phenomenon of hybrid lesions that combine characteristics of multiple nosologies. The significance of prenatal diagnostics, particularly ultrasound and MRI, is highlighted as essential for timely detection of pathologies and planning the management of newborns. Considerable attention is given to the genetic factors and pathogenesis of CLMAs, including the role of mutations in the FGF10 and TBX4 genes, as well as associations with primary ciliary dyskinesia. It is shown that malformation development has a polyetiological nature, combining genetic, embryological, and exogenous factors. Clinical manifestations range from asymptomatic cases to severe respiratory failure, and pathognomonic features of individual forms are identified. It is summarized that diagnosis of congenital lung malformations relies on a combination of clinical data, the results of instrumental methods (CT, MRI, bronchoscopy), histological studies, and genetic testing. The findings are crucial for timely selection of optimal therapeutic strategies, prevention of infectious complications, and reduction of the risk of malignant transformation.

Motile cilia are complex structures regulated by thousandsof genes,essential for various physiological functions like respiration andreproduction. Their dysfunction can result in severe conditions likeprimary ciliary dyskinesia (PCD), highlighting the need for a deepermolecular understanding of their specific ciliary compartments. Interestingly,ciliated cells harbor multiple proteins with limited evidence on biologicalfunction, as defined by Functional Evidence (FE) scores, a gradingsystem developed by the Human Proteome Project (HPP). Building uponthe stringent antibody validation pipeline of the Human Protein Atlas(HPA) project, we developed a high-throughput workflow that combinesa novel multiplex immunohistochemistry protocol with image analysisto investigate protein expression and subcellular localization inmotile ciliated cells across five human tissues: nasopharynx, bronchus,fallopian tube, endometrium, and cervix. We spatially mapped >180proteins, out of which 73% have FE scores 2–5, suggesting thatfurther evidence is needed to establish these proteins’ biologicalfunction. Notably, expression patterns varied between tissues, suggestingthat motile cilia proteins are not universally expressed across thedifferent epithelia. Our pipeline constitutes a promising resourcefor comprehensive mapping of the motile cilia proteome, and a firststep toward identifying cilia proteins for functional studies to understandthe molecular mechanisms underlying ciliopathies.

Motile cilia are eukaryotic organelles with essential chemo- and mechanosensing functions across evolution, from single cell organisms to humans. Motile cilia of the mammalian nervous, respiratory, and reproductive systems are characterized by unique motility proteins to generate fluid flow essential for transporting metabolites and removing mucus. The molecular mechanism underlying motile cilia assembly remains unknown. Here, we use high-resolution imaging, proteomics, in situ cryotomography, and single-molecule motility assays to identify mammalian KIF27, a motor protein of the Kinesin-4 family and homologue of the Hedgehog pathway regulator COS2/KIF7, as a key regulator of motile cilia assembly in vivo. We show that KIF27 promotes the integrity of the transition zone (TZ), a diffusion barrier situated at the cilium base. Loss of KIF27 results in specific and profound defects in axonemal structure and disrupts cilia beating, which collectively lead to organismal phenotypes that recapitulate primary ciliary dyskinesia (PCD). We show that the motile properties of KIF27 are dispensable for its function in motile cilia assembly. Instead, KIF27 acts as a microtubule scaffold to regulate the TZ architecture and enable correct ciliary incorporation of motility-generating proteins. Given that KIF27 orthologues exist in different evolutionarily lineages, we propose that the ancestral activity of KIF27/KIF7 kinesins was to form a microtubule-associated scaffold for protein-protein interactions pertinent to cilia formation and signaling. The transition-zone-associated KIF27 activities may represent a general building principle for the motile cilia assembly in diverse species and cell types.

Primary ciliary dyskinesia (PCD) is a rare genetic disorder characterized by impaired function of the ciliated epithelium. Ciliary dysfunction leads to chronic respiratory tract infections, bronchiectasis, sinusitis, and sometimes organ laterality defects (Kartagener syndrome). Diagnosis requires an analysis of clinical manifestations, measurement of nasal nitric oxide (nNO) levels, assessment of ciliary function and structure using high-speed video microscopy analysis (HSVA) and transmission electron microscopy (TEM), as well as genetic testing. Diagnosing PCD is complicated by cases with normal ciliary ultrastructure, difficulties in differentiating PCD from secondary ciliary dyskinesia, and the genetic heterogeneity of the disease. The HSVA method enables rapid evaluation of key ciliary function parameters, including ciliary beat frequency and ciliary beat pattern, making it one of the cornerstone tools in diagnosing PCD. The aim of this study was to review the HSVA method and software tools designed for the automated processing of HSVA results in PCD diagnostics. Results. The review identified 13 main software tools. The findings show that these tools provide accuracy comparable to manual analysis, facilitate data processing, and reduce the influence of human error. However, manual analysis remains predominant due to the limited availability and complexity of automated solutions. To improve diagnostic quality, further development of universal and accessible software solutions is needed, along with the standardization of HSVA data analysis approaches. Conclusion. HSVA is a pivotal diagnostic method for PCD, which evaluates the function of cilia. HSVA in combination with genetic testing and TEM has been demonstrated to facilitate the identification of the disease. The automation and standardization of HSVA, including the use of video image analysis software for ciliated epithelium, enhance the quality of diagnosis.

We report the case of a 9-month-old male infant with recurrent severe viral pneumonia, culminating in bronchiolitis obliterans and chronic respiratory morbidity. The clinical course was marked by multiple pediatric intensive care unit admissions, prolonged oxygen dependency, and recurrent bacterial superinfections. High-resolution computed tomography revealed bronchiectasis and fibrotic changes. Given the chronicity of symptoms, a clinical suspicion of Primary Ciliary Dyskinesia (PCD) was raised. Genetic analysis detected heterozygous variants of uncertain significance in the DNAH1 and LRRC6 genes. This case highlights the diagnostic and management complexities in infants with post-viral chronic lung disease and the importance of early consideration and evaluation for underlying genetic etiology, such as PCD.

Primary ciliary dyskinesia (PCD) is a rare hereditary disorder belonging to the group of ciliopathies, with autosomal recessive, autosomal dominant, and, less frequently, X-linked inheritance patterns. The aim of this study was to investigate the genetic heterogeneity of the Russian population of PCD patients based on national registry data. The study included patients with PCD confirmed by molecular genetic testing. Quantitative data were analyzed using non-parametric statistical methods. Differences were considered statistically significant at p < 0.05. The study included 109 patients with PCD. Molecular genetic testing identified pathogenic variants in 29 autosomal recessive genes. The analysis of pathogenic variant distribution in the Russian PCD cohort revealed the highest number of changes in the DNAH5 and DNAH11 genes. 26 genetic variants in 13 genes were identified for the first time in the Russian population. Variants in the DNAH5 gene were significantly more frequent in Kartagener’s syndrome (KS) patients (32/55%) compared to those without KS (11/21.5%) (χ2 = 12.8; p = 0.0004; OR = 4.48). Preliminary data indicate that the frequency spectrum of DNAH5 and DNAH11 genes in Russian patients is similar to international trends. Additionally, there is an accumulation of pathogenic variants in the DNAH5, DNAH11, CCDC39, and CFAP300 genes.

IntroductionPeople living with chronic diseases can provide a unique perspective for research that often differs from that of healthcare professionals. This is particularly important in rare diseases like primary ciliary dyskinesia (PCD), with many knowledge gaps and limited research resources. We aimed to assess participation of patients and caregivers in PCD research and identify their research priorities in a mixed-method study.MethodsWe conducted in-depth, semistructured interviews with adults and adolescents with PCD, and caregivers of children with PCD. After verbatim transcription and thematic analysis, we developed an anonymous online survey, translated it into eight languages and circulated it widely in collaboration with PCD support groups worldwide and the European Lung Foundation.ResultsThe findings from the interviews identified key areas to be explored further through the survey including: developing treatments for PCD and increasing knowledge about different topics such as mental health, fertility, upper airway problems, treatment burden and impact of environment and lifestyle. 399 participants completed the online survey from 29 countries with median age 41 (IQR 33–49), 74% were female. 180 participants (45%) had participated in research before. For the remaining, the main reason for no participation was not being informed about studies (65%). 172 (43%) preferred regular research updates during a study. The top three ranked research priorities were (1) finding a cure to restore ciliary function; (2) developing treatments to improve lung function and reduce infections and mucus production; (3) finding the best way to manage the disease using existing medication. Other priorities were: involving more doctors and people with PCD in research, raising awareness of the condition and increasing knowledge about mental health and fertility.ConclusionWe found that people with PCD are motivated to participate in research when they are informed appropriately and invited. Their main research priorities relate to developing new treatments or improving the evidence base for existing treatments. Our findings will help the PCD research community to improve patient engagement in research and to draw common priorities together with the people who live with PCD and their families.

Primary ciliary dyskinesia (PCD) is a heterogeneous genetic disorder characterized by structural and functional abnormalities of motile cilia, leading to chronic oto-sino-pulmonary symptoms and progressive lung damage. Markers of early lung disease in PCD may help to identify individuals who may benefit from closer monitoring or earlier, more aggressive interventions. Multiple Breath Washout (MBW) offers a noninvasive assessment of ventilation distribution inhomogeneity. Whether MBW could serve as a marker of early lung disease in PCD or could be used as an efficacy endpoint in clinical trials in PCD remains to be established. This narrative review evaluates current literature on the role of MBW in early detection and tracking of PCD-related lung disease progression, focusing on its sensitivity compared to spirometry and to the results obtained in different PCD genotypes and phenotypes. Current evidence suggests that LCI outperforms spirometry in detecting early lung abnormalities, but it may also be overly sensitive in this population. The role of LCI in long-term monitoring remains uncertain, requiring more longitudinal data. Alternative MBW indices, such as Scond and Sacin, might offer additional insights into the source of ventilation heterogeneity but need further validation. Correlation of MBW with imaging is inconsistent, underscoring the need for integrated approaches. MBW, particularly LCI, shows promise as a noninvasive sensitive marker of early lung disease in PCD. However, its long-term utility in tracking PCD lung disease remain unclear. Further genotype-stratified, longitudinal studies are needed to confirm its clinical value and optimize its application in PCD management.

ABSTRACTBackgroundIn cystic fibrosis (CF), the defect of the CF transmembrane conductance regulator (CFTR) can also affect sensory nerve cell function, as recently demonstrated in animal models. The aim of this prospective cohort study was to investigate whether taste and smell disorders in CF correlate with persistent CFTR dysfunction detectable by iontophoresis or rather with inflammation or lung function. Participants with primary ciliary dyskinesia (PCD) and controls without pulmonary disease served as comparators.MethodsIn 65 participants (age median 19 years IQR [12−26]; CF n = 23, PCD n = 22, controls n = 20) at the University Children´s Hospital Bochum, we measured taste (salty, sweet, sour, bitter) at four concentrations (“Taste‐Strips,” score 0−16, hypogeusia age‐adjusted < 8/< 9/< 9.9/< 10 points) and smell (“U‐Sniff”‐test, score 0−12, reduced odor identification performance < 8 points), pilocarpine iontophoresis, spirometry, inflammatory markers (e.g., CRP) and subjective chemosensory impairment. Statistics: Chi²/Fisher's‐exact, Mann−Whitney‐U, Kruskal−Wallis, linear regression; p < 0.05.ResultsHypogeusia occurred only in CF (17.4%). Particularly misidentification of the taste “salty” occurred significantly more frequently in CF (34.8% vs. PCD 19.3% and controls 17.5%), especially in the CF subgroup with elevated sweat chloride ≥ 60 mmol/l. Reduced odor identification performance was significantly more common in PCD (30% vs. CF 4%). Chemosensory disorders were not related to current lung function or inflammation.ConclusionTaste disorders in CF are mostly attributed to difficulties tasting salty and are associated with elevated sweat chloride, probably caused by increased salivary salt following CFTR dysfunction in salivary glands rather than in the nerve cells. Smell disorders, however, remain a significant issue, particularly in PCD.

ABSTRACT Primary ciliary dyskinesia (PCD) presents various clinical manifestations, including bronchiectasis, chronic sinusitis, situs inversus, and infertility. PCD is diagnosed through multiple methods, including transmission electron microscopy (TEM), high‐speed video microscopy analysis (HSVA), immunofluorescence (IF), and genetic testing. Recent reports show that a homozygous deletion involving exons 1–4 of DRC1 is common in Japanese patients with PCD. We report the case of a 29‐year‐old male without situs inversus previously diagnosed with diffuse panbronchiolitis, who underwent PCD testing. TEM appeared almost normal, and HSVA showed motile cilia with reduced amplitude. Genetic testing revealed a homozygous deletion involving exons 1–4 of DRC1 . Due to lack of a suitable DRC1 antibody for IF, we used the DRC3 antibody as in previous studies. IF showed the absence of DRC3 in the cilia, suggesting a DRC1 deletion affects DRC3 localization in the cilia. To the best of our knowledge, this case represents one of the earliest reports to perform IF and ciliary movement analysis in PCD with a homozygous deletion involving exons 1–4 of DRC1 .

ABSTRACTPrimary ciliary dyskinesia (PCD) is a genetically heterogeneous motile ciliopathy characterized by chronic respiratory disease, laterality defects, hydrocephalus and infertility, caused by impaired function of motile cilia. LRRC56 has recently emerged as a novel PCD candidate gene, but its role in vertebrate cilia remains poorly understood. Here, we used Xenopus laevis multiciliated cells, targeted knockdown and in vivo imaging to investigate lrrc56 function, and combined these studies with in vivo affinity purification-mass spectrometry (AP-MS) to define its interactome. We show that loss of lrrc56 causes specific depletion of outer dynein arms (ODAs) from the distal axoneme. In vivo AP-MS revealed that Lrrc56 binds the ODA docking complex components, including Odad3. Consistently, lrrc56 knockdown also led to distal loss of Odad3. Moreover, we show that disease-associated variants in LRRC56 and ODAD3 disrupted their localization and interaction, pointing to a shared functional pathway. Our work demonstrates that lrrc56 is a critical regulator of distal ODAs and ODA docking complex deployment and provides new mechanistic insight into PCD, advancing our broader understanding of motile cilia biology.

BackgroundPrimary ciliary dyskinesia (PCD) is a rare genetic disorder caused by structural or functional abnormalities of motile cilia, characterized by considerable clinical and genetic heterogeneity. Although exome sequencing (ES) can improve the diagnostic rate of PCD, more than 30% of patients with clinically suspected PCD remain undiagnosed by initial ES. The American College of Medical Genetics and Genomics (ACMG) recommends periodic reanalysis of ES data to increase the diagnostic yield.MethodsWe investigated a 35-year-old female patient with bronchiectasis and a strong clinical suspicion of PCD from Peking Union Medical College Hospital. The patient’s ES data, which had initially yielded negative results in August 2024, was reanalyzed in early 2025 employing a “genotype-phenotype-inheritance pattern” strategy. A minigene assay was conducted to validate the pathogenicity of the identified CFAP54 splicing variant. Variant pathogenicity was classified according to the ACMG/AMP guidelines.ResultsThe patient had a history of rhinitis and neonatal pneumonia. Pulmonary function tests revealed moderate obstructive ventilatory dysfunction. ES reanalysis identified a homozygous variant, CFAP54 (NM_001306084.2):c.6965 + 5G >A, which was initially classified as a variant of uncertain significance. Minigene assays confirmed that this variant induced exon 50 skipping, resulting in a frameshift and a premature termination codon (loss-of-function). This variant was subsequently reclassified as “Likely Pathogenic”.ConclusionThis study is the first to describe CFAP54:c.6965 + 5G >A and confirm its pathogenicity. This finding brings the total number of CFAP54-associated PCD patients to eight and the number of distinct CFAP54 mutations to twelve, thereby enriching the phenotypic and genotypic spectrum of this gene. Furthermore, this effective strategy of “ES reanalysis + minigene verification” resolved the diagnostic dilemma in initially ES-negative PCD cases, providing a replicable molecular diagnostic framework for similar scenarios.

La discinesia ciliar primaria es un trastorno genético heterogéneo autosómico recesivo caracterizado por disfunción de la motilidad ciliar. Se han reportado variantes de significado incierto en pacientes con fenotipo compatible con discinesia ciliar primaria. Varón de 15 años con historia de infecciones respiratorias y cuadros obstructivos bronquiales recurrentes desde el periodo neonatal. Los estudios radiológicos mostraron atelectasias, alteración de los senos paranasales y bronquiectasias. La ultraestructura ciliar mostró ausencia del par de microtúbulos centrales, de los brazos externos e internos de dineína, y desorganización microtubular. El panel genético reportó una variante genética de significado incierto en el gen DNAI1 (NM_012144.4): c.1489+5G>A. Fue tratado con antibioticoterapia, nebulizaciones con solución salina hipertónica y fisioterapia respiratoria, con buena evolución en el seguimiento. Es importante el reporte de una variante de significado incierto en el gen DNAI1 en un paciente con fenotipo clínico y hallazgos de clase 1 en la microscopía electrónica ciliar compatibles con discinesia ciliar primaria, con el fin de aportar a la reclasificación de variantes. Primary ciliary dyskinesia is an autosomal recessive heterogeneous genetic disorder characterized by dysfunction of ciliary motility. Variants of uncertain significance have been reported in patients with a phenotype compatible with primary ciliary dyskinesia. A 15-year-old male adolescent with a history of respiratory infections and recurrent bronchial obstructive symptoms since the neonatal period. Radiological studies showed atelectasis, paranasal sinus alterations, and bronchiectasis. Ciliary ultrastructure showed the absence of the central microtubule pair, the external and internal dynein arms, and microtubular disorganization. The genetic panel reported a genetic variant of uncertain significance in the DNAI1 gene (NM_012144.4): c.1489+5G>A. He was treated with antibiotic therapy, nebulizations with hypertonic saline solution, and respiratory physiotherapy with good evolution during follow-up. It is important to report a variant of uncertain significance in the DNAI1 gene in a patient with a clinical phenotype and class 1 findings in ciliary electron microscopy compatible with primary ciliary dyskinesia, to contribute to the reclassification of variants.

&amp;lt;i&amp;gt;Background:&amp;lt;/i&amp;gt; Kartagener’s Syndrome (KS) is a rare autosomal recessive genetic disorder characterized by defects in the structure and function of cilia. It is a subset of primary ciliary dyskinesia (PCD) and is defined by a triad of chronic sinusitis, bronchiectasis, and situs inversus totalis. The condition often leads to infertility due to impaired sperm motility. Given its rarity and overlapping symptoms with other respiratory diseases, KS is frequently misdiagnosed. &amp;lt;i&amp;gt;Case Presentation:&amp;lt;/i&amp;gt; Our client was a 40-year-old male who presented to the Rivers State University Teaching Hospital, Port Harcourt, Rivers State, South-south Nigeria with recurrent productive cough, rhinorrhea, exertional breathlessness, and wheezing—symptoms have been present since childhood. He had been managed for bronchial asthma at a peripheral center and also reported a history of primary infertility for six years. Clinical examination revealed respiratory distress, oxygen saturation of 87% on room air, and auscultatory findings of coarse crepitations and inspiratory rhonchi. Notably, cardiac auscultation localized heart sounds to the right side of the chest, raising suspicion of situs inversus. A chest computed tomography (CT) scan confirmed cystic bronchiectasis and situs inversus totalis, leading to a diagnosis of Kartagener’s Syndrome. Spirometry demonstrated an obstuctive ventilatory pattern with significantly reduced Forced Expiratory Volume in 1 second (FEV1), Forced Vital Capacity (FVC) and FEV1/FVC ratios. The patient was managed with antibiotics, bronchodilators, steroids, antihistamines, and chest physiotherapy. Educating and counseling the patient on disease condition, referred to psychotherapists/ Social support group. He remains under follow-up in the respiratory clinic for long-term care. &amp;lt;i&amp;gt;Conclusion &amp;lt;/i&amp;gt;Kartagener’s Syndrome, though rare, has been reported globally (1–5). Due to symptom overlap with asthma and other chronic respiratory conditions, it is frequently underdiagnosed. Early recognition using clinical evaluation and imaging studies is crucial for appropriate management and improved patient outcomes.

Primary ciliary dyskinesia (PCD) is a genetic disease caused by variants affecting more than 50 cilia genes. We report the prevalence and distribution of all known and novel variants in children with PCD in Qatar. The cohort included 28 children: 16 Qatari, 3 Egyptian, 2 Tunisian, 1 Sudanese, 1 Algerian, 1 Pakistani, 2 Iranian, and 2 Indian. Consanguinity rate was 82.1%. Median age at diagnosis was 7.5 years (IQR: 0.6-11.8). Situs inversus was present in 7 (25%) patients, chronic cough in 25 (89.3%), chronic sinusitis in 17 (60.7%), and bronchiectasis in 16 (61%). Median FEV1 was 71% (IQR: 58%-82%), FVC was 80% (IQR: 74%-91%), and FEV1/FVC ratio was 79% (IQR: 68%-84%). The most frequent variant in native Qataris was c.5924+1G>C in DNAH11 (seven patients). Eight novel variants were found in the cohort: c.6565C>T in DNAH11 (two patients); c.368-369del in DNAAF3 (one patient); c.357G>A in DNAFF2 (one patient); c.278G>A in DNAAF2 (one patient); c.1666-9C>G (intronic) in CCDC39 (two patients); c.9105+2T>C (splice donor) in DNAH5 (two patients); c.8647+3A>G (intronic) in DNAH5 (two patients); c.916G>T in ODAD4 gene (two patients). Wide genetic variation was found among PCD children in Qatar, including several novel variants, reflecting their ethnic diversity. Genetic variation was less among native Qatari patients due to high consanguinity.

Primary ciliary aplasia is a rare congenital disease that alters normal function of the mucociliary apparatus. Patients generally present with severe, recurrent, or chronic airway infection. This report describes the ultrastructural alterations observed in the nasal mucosa of a 30-year-old female patient who has suffered from chronic upper and lower respiratory tract infections since childhood. These ultrastructural features are consistent with complete ciliary aplasia, a rare form of primary ciliary dyskinesia. A high degree of suspicion for this disorder is mandatory for accurate diagnosis and prompt treatment. A careful description of the diagnostic procedures and treatment of this extremely rare disorder has been provided.

Introduction: Bone health screening is established in cystic fibrosis (CF). Given the unknown status of bone quality in primary ciliary dyskinesia (PCD), these recommendations have not been adopted. We aimed to evaluate the bone phenotype in PCD compared to healthy controls and CF. Methods: In this exploratory cross-sectional study, we assessed bone mineral density (BMD) at the whole body and lumbar spine using dual-energy X-ray absorptiometry (DXA), and tibial bone microarchitecture using high-resolution peripheral quantitative computed tomography (HR-pQCT) in 15 individuals with PCD and 45 with CF, aged 12–20 years. Measures were compared to healthy controls matched one-to-one by pubertal stage and sex. Disease-to-healthy differences were compared between PCD and CF, and associations with body mass index (BMI), lean mass, and lung function were analysed. Results: DXA-measured areal BMD and HR-pQCT-derived total volumetric BMD showed no differences between PCD and controls. HR-pQCT revealed reduced cortical thickness, area, and BMD at the ultra-distal tibia in PCD compared to controls. While PCD and CF did not differ, the PCD bone phenotype more closely resembled pancreatic-insufficient than pancreatic-sufficient CF. Dimensional cortical deficits were largely explained by BMI or lean mass, especially in CF, but remained reduced in PCD after adjustment, indicating potentially intrinsic disease-related alterations. Lung function did not clearly correlate with bone outcomes in PCD. Conclusion: Skeletal health appears compromised in young people with PCD. Despite mostly normal densitometry, tibial bone microarchitecture was altered. This study positions bone health as a research priority in PCD and supports the need for larger confirmatory studies.

Rational.Cystic Fibrosis (CF) and Primary Ciliary Dyskinesia (PCD) are both inherited respiratory disorders that result in impaired mucociliary clearance, and chronic sinopulmonary disease. Although the current approach to PCD management is extrapolated from CF care, both conditions arise from distinct genetic and molecular mechanisms.Methods.Here we performed a comparative transcriptomic analysis between CF and PCD to compare the cellular heterogeneity, molecular pathways and gene networks differences using publicly available sequencing data as well as those performed by our group. To explore gene regulatory networks, a pre-trained transformer model (scGPT) was fine-tuned using an integrated dataset, and differential attention analysis was conducted to identify genes and pathways with altered attention scores between the two conditions.Results.The comparative transcriptomic analysis revealed distinct molecular signatures between PCD and CF, which differed from normal cells. In ciliated cells, differential gene expression and pathway investigation highlighted the NRF2 pathway’s considerable overrepresentation in PCD compared to CF and healthy conditions. This observation was further supported by scGPT analysis, which revealed increased incoming attention to the NRF2 pathway markers. In secretory cells, PCD and CF exhibited increased immune and inflammatory signaling compared to controls. While similar inflammatory processes were active, results suggested a stronger inflammatory pattern in CF secretory cells compared to PCD and confirmed the activation of the unfolded protein response (UPR) pathway.Conclusion.These findings highlight the different molecular signatures between both conditions and the need for unique approaches to management in PCD compared to CF.