Characteristics of patients with primary ciliary dyskinesia

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Primary ciliary dyskinesia (PCD) is a rare hereditary disease from the group of ciliopathies with extensive locus and allelic heterogeneity (ORPHA 244, 98861; OMIM 242650, 244000). This disease is inherited by autosomal dominant or autosomal recessive type and, less often, by X-linked type (OMIM 300424). Retinitis pigmentosa develops in the X-linked PCD variant. The overall minimum global prevalence of PCD according to European data is 1 : 7554. There is no generally accepted classification of PCD in the international classification of diseases (ICD), 10th revision. PCD is not presented in ICD-10 as a separate medical entity, and the code Q32.4 – Other congenital bronchial anomalies – is used for coding. In the new edition of ICD-11, the code LA75.Y is highlighted – Other specified structural abnormalities of the lungs.Primary ciliary dyskinesia. However, there is no generally accepted classification of PCD. The aim of the study was to develop a classification of primary ciliary dyskinesias to improve the efficiency of medical care for patients during follow-up.Methods. European and Russian clinical recommendations, as well as ICD 10th and 11th revision, Classification of Respiratory Insufficiency (2020), Order of 27.08.19 No.585n “On classifications and criteria used in the implementation of medical and social expert assessment of citizens by federal state institutions of medical and social expert assessment” (as amended on 06.10.21) were used to create the classification.Results. The classification of PCD was created and can be recommended for use in clinical practice. The classification was based on the presence or absence of the Sievert – Kartagener syndrome (complete, not complete), as well as clinical and instrumental characterization of bronchopulmonary changes based on the presence of chronic obstructive bronchitis, bronchiectasis (specifying the type and localization), pneumofibrosis with the process activity (exacerbation, remission), and the degree of respiratory failure. It is recommended to take into account extrapulmonary manifestations of PCD, such as rhinosinusitis, media otitis, congenital heart defect, and complications. It is recommended to use the PICADAR (PrImary CiliAry DyskinesiA Rule) score and to include the results of video microscopy, DNA diagnosis, and microbiological examination in the diagnosis.Conclusion. The application of the proposed classification can be useful in the dynamic observation of the patient, therapy and in the conduct of medical and social expert assessment.

Classification of primary ciliary dyskinesia

Kondratyeva,

Avdeev,

Kyian

et al. 2023

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Parallels between clinical and genetic characteristics in children with primary ciliary dyskinesia

Novak,

Mizernitskiy

2024

Primary ciliary dyskinesia (PCD) is a rare genetic disorder that leads to chronic inflammatory damage to the airways and auditory organs. This article presents current information and a study aimed at investigating parallels between the course of PCD and clinical and genetic variant of the disease, which contributes to a timely diagnosis and enables personalized treatment approach.The aim of the study was to identify phenotypic characteristics and chronological patterns of PCD course depending on the genotype.Methods. The study was conducted at the Veltischev Research Clinical Institute of Pediatrics and Pediatric Surgery of the Pirogov Russian National Research Medical University (Pirogov Medical University), Ministry of Health of Russia. The study included children with PCD who underwent next generation sequencing (NGS) of the exome.Results. Significant differences were found in the course of PCD based on clinical and genetic characteristics. Children with defects in the genes encoding central pair proteins are characterized by an earlier onset of daily productive cough and recurrent respiratory infections. A similar pattern is typical for patients with defects in the genes encoding the cilia assembly proteins. The first episode of respiratory infection occurs later in patients with defects in the genes encoding dynein handle proteins. Patients who do not have defects in PCD-associated genes are characterized by a late onset of persistent difficulty in nasal breathing, productive cough and respiratory diseases.Conclusion. Identification of clinical and genetic variants of PCD allows prediction of chronological features of the course of the disease.

Comparative characteristics of patients with primary ciliary dyskinesia with or without Kartagener’s syndrome

Kondratyeva,

Avdeev,

Kyian

et al. 2024

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Primary ciliary dyskinesia (PCD) is a rare hereditary disease, a ciliopathy that is based on a defect in the ultrastructure of the cilia of the epithelium of the respiratory tract and similar structures. All parts of the respiratory tract are affected. About half of the patients with PCD have transposition of the internal organs (Kartagener syndrome – KS).The aim was to investigate the clinical and genetic characteristics of patients with PCD with and without KS.Methods. An assessment of clinical and genetic characteristics was performed in a sample of 127 patients with PCD, who were divided into 2 groups: patients with KS (n = 60) and without KS (n = 67). The groups were compared on the basis of their medical history (according to the PICADAR scale), clinical, instrumental and laboratory data, including the results of light and video microscopy, transmission electron microscopy (TEM) and genetic testing.Results. According to the results of comparative characterization of patients with PCD with and without KS, there were similarities in the medical history, decreased lung function indices, videomicroscopy results – ciliated epithelium beating below 6 Hz, TEM – predominance of dynein arm defect. The PICADAR score was higher in the group with KS than in the group without it; congenital heart defects and renal pathology were found more frequently in patients with KS, while hearing loss and nasal polyposis were found more frequently in patients without KS. Electron microscopy revealed defects in the outer and inner dynein arms of the cilia in 50% of patients in both groups, and a tendency to lack of the central pair of microtubules in 18% of patients without KS. The following genes responsible for PCD were found in both groups: DNAH5, CFAP300 and HYDIN. DNAH5 gene variants were more common for KS patients (61.1%), while HYDIN gene variants were only found in patients with PCD without KS (15.8%).Conclusion. The identified differences may help in the diagnosis of the groups studied.