bronchiectasis
Conditions
Interventions
Gold Standard:Definite PCD needs to meet one of the following criteria: (1) Hallmark ciliary ultrastructural defects (class 1) identified by TEM analysis
(2) Biallelic pathogenic variants in PCD-associated genes
(3) Kartagener syndrome.
Index test:A diagnostic predictive tool for primary ciliary dyskinesia
Sponsors
Peking Union Medical College Hospital
Eligibility
Sex/Gender
All
Inclusion criteria
Inclusion criteria: 1.Participants must meet the following criteria to be eligible for enrollment in this study:; 2. Outpatients or inpatients of Peking Union Medical College Hospital, and meet at least one of the following positive criteria; 3.(2) Sweat chloride ion measurement: Clinically probable CF/CFTR-diffuse branch dilation patients; 4.(3) Fluoroscopy electron microscopy (TEM) for clinical probable PCD patients. 5.(4) Patients whose clinical history supports the diagnosis of hereditary diffuse bronchiectasis. 6.Clinical Prediction Score Part Inclusion Criteria:; 7.Participants must meet the following criteria to be eligible for enrollment in this study:; 8. Patients who were admitted to the Department of Respiratory and Critical Care Medicine of Peking Union Medical College Hospital or Second Xiangya Hospital of Central South University from January 2013 to July 2024; 9.(2) chest CT for diagnosis of bronchiectasis or atelectasis; 10.(3) At least one of the following clinical features: 1. Repeated cough and sputum production began before adulthood; 2. Combined with sinusitis; 3. Combined with otitis media; 4. Visceral reversal; 5. Infertility or infertility; 6. Family history of bronchiectasis; 7. Respiratory symptoms (shortness of breath, cough, pneumonia, etc.) in the neonatal period; 11.The selection criteria for the PCD field retrieval section are:; 12.[Medical record screening criteria]: Search in the HIS system according to the following keywords: (bronchiectasis or bronchiectasis or atelectasis) AND (sinusitis or nasal polyps or otitis media or neonatal pneumonia or neonatal respiratory distress or ectopic pregnancy or infertility or in vitro fertilization or artificial insemination or assisted reproduction or hydrocephalus or congenital heart disease or visceral inversion or right-sided heart disease or consanguineous marriage or consanguineous marriage or family history of bronchiectasis); 13.For the medical records retrieved above, those who meet one of the following three conditions meet the inclusion criteria: 1. Age of consultation = 18 years old 2. visceral inversion or right-sided heart 3. Age of consultation>18 years and (age chief complaint time = 18 years or repeated coughing, sputum production, hemoptysis, nasal congestion, discovery of bronchiectasis, sinusitis, otitis media or diagnosis of bronchiectasis, sinusitis, otitis media - birth year = 18 years);
Exclusion criteria
Exclusion criteria: 1.Participants who meet any of the following criteria will be excluded from this study:; 2. Combined with clinical history and laboratory tests, clinical exclusion of known non-hereditary branching from clinical practice; 3.(2) According to the judgment of the investigator, there are other circumstances that are not suitable for participating in this study; 4.(3) Patient refuses to participate in the study. 5.Clinical Prediction Score Partial Exclusion Criteria:; 6.The medical history is collected according to the medical record, and if the information in the medical record is incomplete, it will be excluded; 7.Exclusion criteria for PCD field retrieval::; 8.For repeat enrolled patients; Diagnosed with PCD, cystic fibrosis (CF), and immunodeficiency (such as common variant immunodeficiency disease, high IgE syndrome, X-linked agammaglobulinemia, etc.); Due to "no bronchiectasis", "no bronchiectasis", "no atelectasis", "no sinusitis", "no otitis media", etc. being excluded from the search.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Genetic variation information; | — |
Countries
China
Contacts
Public ContactXinlun Tian
Peking Union Medical College Hospital
Outcome results
None listed