Abstract

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REVIEW OF CYSTIC FIBROSIS

Bahroz Abbas Mahmood


CF is a lifelong genetic disease that result in formation of thick, sticky mucous in lung, pancreas and other organs. In lung, the airway is blocked by mucous causing lung damage. CF is as a result in mutation in cystic fibrosis transmemebrane conductance regulator (CFTR). The most common mutation in CF gene is (ΔF508). In ΔF508 mutation the Δ is deleted from three nucleotides result in loose of phenyl alanine amino acid at 508th location on protein. CF caused by mutation of (ΔF508) account two third of cases worldwide and difficulty in breathing and eventually severe lung infection. The most common signs is salty skin, growth rate retardation and loss of weight, however the food intake is normal, accumulation of thick sticky mucous in chest region which is difficult to control because of it’s sticky in nature. Different diagnosis categories are used in screening of CF, such as sweat test or genetic testing and new born screening. In new borns, measuring the level of immunoreactive trypsinogen is valuable in detecting CF. Although there is no healing in CF patients, many ways are available for treatment. The key role in management of CF is treating of airway infection and encourages the patient to an active life style and using high energy content food. Management of CF continue throughout patient’s life and it is important in maintaining of organ functioning and delay organ dysfunctions