A Brief Note On Cystic Fibrosis And The Common Autosomal Recessive Disorder

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Disability Overview Cystic fibrosis is the most common autosomal recessive disorder in Caucasian’s with an incidence rate of 1 in every 2,500 births. Cystic Fibrosis, commonly known as CF, is a life-threatening, lethal genetic disease that mostly affects the lungs and digestive system (O’Sullivan & Freedman, 2009). An individual with cystic fibrosis has a specific mutation in a gene and protein called cystic fibrosis transmembrane conductance regulator (CFTR). This protein acts as a channel for ions, which help the body in healthy balance of salt and water. An individual with this mutation of CFTR creates sticky, thick mucus (Falvo, 2014 p. 486). This abnormal mucus affects individuals with CF by forming blockage in their respiratory track and obstruction in his or her pancreases (Ratjen & Doring, 2003).
Cystic fibrosis is found most commonly in individuals with European descent and very uncommon in African and Asian descent (O’Sullivan & Freedman, 2009). When cystic fibrosis was first documented in 1938, the life expectancy was only a few months for the patients (O’Sullivan & Freedman, 2009). Cystic fibrosis is still currently an incurable disease; however treatments have greatly improved over the past few decades. Years ago, individuals with cystic fibrosis would rarely live beyond his or her childhood, but now many individuals with the disease are living well into their adulthood (Falvo, 2014). The life expectancy over the past decade has increased tremendously. It

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