Gene f508 and r117h ~7t

Im hoping someone can help me understand all this, my sons mutations were found at his new born screening he had a sweat test as a newborn and everything was in normal range they repeated the sweat test at age 6 months his chloride levels went up a bit so we went for another test at age 1 then his chloride levels were up even more and he was diagnosed with cf he is now almost 4 and has had no real issues with cf he has check ups every 3 months but nothing has ever really changed i have two other kids and he doesn't seem to really get any sicker then them. Im frustrated because he is on a vest twice daily with albuterol in his neb plus pulmazyne in the evening. They just recently started him on klydeco also why does he really need all these treatments and meds if he has no symptoms he is at that age where everything is a power struggle and then we have to add all the treatments as a struggle also. I feel we are pumping him full of unnecessary medication when hes never really been sick. They always ask me hows his cough doing but he doesn't have one im confused. Anyone else been in similar situation maybe could give me advice or just maybe make me feel better about pumping my son full of these meds. Thanks: )
Source: Cystic Fibrosis DNA and Mutations Forum - Category: Respiratory Medicine Authors: Tags: DNA and Mutations Source Type: forums

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Pulmonary disease remains the most significant determinant of morbidity and mortality in cystic fibrosis (CF). Patients with CF typically experience progressive decline in lung function punctuated by pulmonary exacerbations [1], acute episodes characterized by worsened cough and sputum production and thickness, as well as decreases in pulmonary function, appetite, and weight. Over 34% of patients with CF are treated with IV antibiotics for an exacerbation each year [2]; median duration of hospitalization for these events is 9.3 days, and the median duration of IV antibiotics is 13 days [2].
Source: Journal of Cystic Fibrosis - Category: Respiratory Medicine Authors: Tags: Original Article Source Type: research
A 51-year-old Caucasian male with cystic fibrosis (CF) (homozygous ΔF508) and mild obstructive lung disease (baseline forced expiratory volume in 1 second (FEV1) was 2.59L, 70% predicted), presented to our clinic with a history of recurrent fevers, cough with purulent sputum, and dyspnea on exertion. Comorbidities included chronic infection with Pseudomonas aerugi nosa, intermittent colonization with Exophiala dermatitidis, pancreatic insufficiency, adenomatous colon polyps (resected), osteopenia and CF-related diabetes.
Source: Journal of Cystic Fibrosis - Category: Respiratory Medicine Authors: Source Type: research
Background: Chronic respiratory diseases contribute to the development of anxiety and depression. In bronchiectasis (BE), it is unclear whether these comorbidities are related to general or disease-related quality of life (HRQoL) or symptoms.Aims: To evaluate the correlation between anxiety and depression and QoL in patients with BE.Methods: 26 subjects with non-cystic fibrosis BE of both sexes, 56±16 years, classified by the Bronchiectasis Severity Index (BSI), answered to the Mini Mental State Examination (MMSE), Anxiety and Depression Scale (HADS), Medical Outcomes Study 36 – Item Short – Form Health ...
Source: European Respiratory Journal - Category: Respiratory Medicine Authors: Tags: Physiotherapists Source Type: research
Chronic rhinosinusitis (CRS) and nasal polyposis are common comorbidities among Cystic Fibrosis (CF) patients. These conditions are managed with education to routine nasal irrigations, periodical follow-ups that consists of quality of life questionnaires, annual nasal fibroscopy and nasal lavage fluid analysis.Aim: To retrospectively analyze CF patients with symptoms of chronic rhinosinusitis and nasal polyposis.An observational retrospective analysis was performed from 2017 to 2018 among clinically stable adult CF patients. Respiratory function indices, anthropometric data, routine airway clearance techniques and Sino-nas...
Source: European Respiratory Journal - Category: Respiratory Medicine Authors: Tags: Physiotherapists Source Type: research
Aim: To investigate the role of different types of bronchial infection and respiratory symptoms upon lung function decline.Methods: 89 children and adults with CF (mean (SD) age: 11.71 (6) years) performed 1340 serial Multiple Breath Washout (MBW) tests and 980 spirometries over a 5-year period. Respiratory symptoms (cough, sputum, nasal congestion) and Pulmonary Exacerbations (PEx) were recorded. Pseudomonas Aeruginosa, Staphylococcus aureus infection, as well as aspergillus, candida, Achromobacter, Acinetobacter, Serratia and Stenotrophomonas Maltophilia isolated from cough swabs/ sputum cultures were recorded.Results: M...
Source: European Respiratory Journal - Category: Respiratory Medicine Authors: Tags: Cystic fibrosis Source Type: research
Conclusions: this is the largest study in pediatric NCFB. As the management of NCFB affected patients remains problematic, a better definition of clinical, radiological and microbiological features of NCFB is required to improve their management.Reference:1. BMC Pediatrics 2014;14: 299
Source: European Respiratory Journal - Category: Respiratory Medicine Authors: Tags: Paediatric bronchology Source Type: research
Introduction: Patients with neuromuscular diseases (NMD) frequently have respiratory complications including secretion retention related to weak cough, aspiration syndromes, and chest wall deformity. Nebulised hypertonic saline (HTS) is useful in cystic fibrosis to remove secretions and decrease exacerbations. We know of no data on use in NMD.Hypothesis: Nebulised HTS in NMD decreases respiratory complications and is acceptable to patients.Aims: To assess whether treatment with nebulised HTS in NMD 1) decreases respiratory exacerbations, 2) improves ease of airway clearance, and 3) explore the participants’ perceptio...
Source: European Respiratory Journal - Category: Respiratory Medicine Authors: Tags: Rehabilitation and chronic care Source Type: research
In conclusion, the incidence of M abscessus does not seem to be increasing in non-CF patients in our institution. There may be an epidemiological link with acid suppression and reflux disease, this hypothesis has been previously reported in patients with CF.
Source: European Respiratory Journal - Category: Respiratory Medicine Authors: Tags: Respiratory infections Source Type: research
AbstractPurposeAustralian data regarding the management of patients with bronchiectasis is scarce. We sought to compare the management of adults with bronchiectasis attending tertiary Australian centres with recent national and international guidelines.MethodsThe Australian Bronchiectasis Registry is a centralised database of patients with radiologically confirmed bronchiectasis unrelated to cystic fibrosis recruited from 14 tertiary Australian hospitals. We excluded children (
Source: Lung - Category: Respiratory Medicine Source Type: research
Pediatric non-cystic fibrosis (CF) bronchiectasis is characterized by endobronchial suppuration, airway neutrophilic inflammation and poor mucus clearance and is associated with persistent productive cough due to recurrent airway infections. Most recommendations are based on expert opinion or extrapolated from CF practice. The present narrative review aims to address some issues on the management of children or adolescents with non CF-bronchiectasis that still require attention, and analyze what available literature offers to reply to open questions.
Source: Pediatrics and Neonatology - Category: Perinatology & Neonatology Authors: Tags: Review Article Source Type: research
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