Cystic Fibrosis : An Autosomal Recessively Autosomal Recessive Inherited Condition

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Cystic Fibrosis Case Commentary Cystic fibrosis (CF) is an autosomal recessively inherited condition that affects approximately 9000 patients in the UK (Rowe et al, 2005). CF is caused by a mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene (Rowe et al, 2005), resulting in deficiencies in normal ion transport across cell membranes (Mall and Boucher, 2014). Abnormal ion transport causes the sputum to become dehydrated and more viscous (Mall and Boucher, 2014), leading to the airways becoming blocked and a reduction in the efficacy of the mucocilliary escalator at clearing sputum (Cystic Fibrosis Trust, 2011). This can result in the patient’s symptoms of breathlessness and recurrent infections as the sputum…show more content…
Bronchodilators have been proven to reduce bronchospasm and dyspnoea as well as increase exercise tolerance for CF patients (Heijerman et al, 2009). Antibiotics are prescribed for CF patients, both as a long-term treatment to try to prevent infections and to treat acute exacerbations when they occur (Orchard and Bilton, 2014). Vitamin and pancreatic enzyme supplements, such as Creon, are prescribed to CF patients (Cystic Fibrosis Trust, 2002) as they promote healthy growth and bone densities (Sermet-Gaudelus et al, 2011). A study by Aris et al (2003) has shown that Alendronate, as prescribed to this patient, can increase bone density in CF patients. Mucolytic agents (such as DNase) are also used to treat CF patients as they reduce the viscoelasticity of sputum, allowing easier expectoration (Heijerman et al, 2009). Physiotherapeutic Management Physiotherapy treatment for this patient during an acute exacerbation of CF would include airway clearance techniques and breathing control exercises, especially as sputum retention and shortness of breath are concerns for this patient (Cystic Fibrosis Trust, 2011). ACBT is a technique that is commonly used for airway clearance and to treat dyspnoea (Bradley et al, 2006). However, a review by Mckoy et al (2012) found that although ACBT was popular with patients and therapists and did improve sputum clearance, there was little or inconclusive evidence to
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