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Assessment of the outcome of patients not concluded fir cystic fibrosis, either symptomatic patients or asymptomatic children detected by newborn screening for cystic fibrosis. The aim is to identify patients potentially at risk of progressing to the clinical spectrum of cystic fibrosis
Among patients not concluded for the diagnosis of cystic fibrosis, some are carriers of CFTR-RD mutations, therefore at risk of progressing to a symptomatic form, and may already have a subclinical involvement that it is important to identify. Among patients who do not carry the CFTR-RD genotype, other patients may be at risk of developing symptoms, if they are carriers of an undetected variant or wrongly classified as non-pathogenic. It is important to detect them to prevent the onset of symptoms
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| patients with unconcluded diagnosis for cystic fibrosis |
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| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| data collection | Other | collection of data of generated by "real world" follow up |
|
| Measure | Description | Time Frame |
|---|---|---|
| lung Imaging | abnormal lung Imaging score, assessing the area of the lung with bronchiectasis, bronchial wall thickening, mucus plug and air trapping | within 3 months after visit |
| Measure | Description | Time Frame |
|---|---|---|
| lung infection | sputum bacterial colonization (number of Colony Forming Unit) of bacteria, fungi | within 2 weeks after visit |
| pancreatic function | fecal elastase in µg/g of feces |
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Inclusion Criteria:
patients not concluded for the diagnosis of Cystic fibrosis either because of intermediate sweat test or because extensive genetic study has identified 2 vrainats at least 1 being not CF causing
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Exclusion Criteria:
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children of adults not concluded for the diagnosis of Cystic fibrosis
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| ID | Term |
|---|---|
| D003625 | Data Collection |
| ID | Term |
|---|---|
| D004812 | Epidemiologic Methods |
| D008919 | Investigative Techniques |
| D017531 | Health Care Evaluation Mechanisms |
| D011787 | Quality of Health Care |
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| within 2 weeks after visit |
| D017530 | Health Care Quality, Access, and Evaluation |
| D011634 | Public Health |
| D004778 | Environment and Public Health |