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Bronchiectasis, defined by an increase in bronchial caliber and thickening of the bronchial wall, is associated with recurrent respiratory infections, chronic cough and bronchorrhea, and a frequent progression to chronic respiratory failure. Investigator distinguish focal bronchiectasis usually resulting from a localized cause and diffuse bronchiectasis which the possible causes are multiple (immune deficiencies, genetic diseases, auto immune pathologies, aspergillosis broncho -allergic lung, sequelae of pulmonary infections).The etiological assessment is negative in 26 to 53% of cases, defining the idiopathic bronchiectasis. However, the discovery of an underlying cause can change the patient's management (up to 37% of cases).
Despite the lack of epidemiological data in French Polynesia, Australian and New Zealand studies found a high prevalence of bronchiectasis in Polynesians. Few clinical studies published in the early 1980s suggested a ciliary origin.
Due to its geographic characteristics, the Polynesian population constitutes an interesting ethnic group. Indeed, there is a low genetic mixing and the prevalence of certain genetic diseases like the syndrome of Alport or some hereditary retinal dystrophies are high. This type of population is very suitable for discovering new genes in human pathology.
Investigator decided to conduct an observational study to find an underlying genetic cause of bronchiectasis in Polynesians by performing a whole exome sequencing. Investigator chose to study index cases defined by an upset of symptoms during the childhood, a family history of idiopathic bronchiectasis, and/or a consanguinity. Investigator also want to study healthy first degree relatives, in order to be able to better identify the clinical significant of DNA variants and focus the analysis on those that may be pathogenic
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Polynesian patient | Patient with dilatation of idiopathic bronchi |
| |
| Relatives of polynesian patient | Healthy |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Blood Test | Genetic | Blood analysis |
|
| Measure | Description | Time Frame |
|---|---|---|
| identification of genetic mutation | New mutation in the coding region or mutation located outside the coding regions on the transcriptome | Anytime in the period of 10 years |
| Measure | Description | Time Frame |
|---|---|---|
| Clinical phenotype | Extra-respiratory history Bronchial colonizations Scannographic aspect | Anytime in the period of 10 years |
| scannographic description | Extra-respiratory history Bronchial colonizations Scannographic aspect |
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*Patients
Inclusion Criteria:
Exclusion Criteria:
Refusal to participate in the study
*Relatives
First-degree healthy relatives
Polynesian adult more than 18 years
Signed consent
Affiliated with a social security system
Exclusion Criteria:
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Polynesian patient with dilatation of idiopathic bronchi
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| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| CH Polynesie Française | Papeete | French Polynesia |
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| ID | Term |
|---|---|
| D030342 | Genetic Diseases, Inborn |
| ID | Term |
|---|---|
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
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| ID | Term |
|---|---|
| D006403 | Hematologic Tests |
| ID | Term |
|---|---|
| D019411 | Clinical Laboratory Techniques |
| D019937 | Diagnostic Techniques and Procedures |
| D003933 | Diagnosis |
| D008919 | Investigative Techniques |
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ADN and ARN are collected
| Anytime in the period of 10 years |
| Effect on the splicing of messenger RNA | correlation genotype/phenotype | Anytime in the period of 10 years |
| transcriptome of patients | correlation genotype/phenotype | Anytime in the period of 10 years |