Jan 12, 2018 in Medicine

Factors that Influence Disease

Cystic fibrosis is a disorder also referred to as mucoviscidosis. Cystic fibrosis is an autosomal recessive genetic disorder that affects the pancreas, intestines, liver, and lungs. This disorder is associated with irregular transportation of sodium and chloride across an epithelium. This causes a thick sticky discharge. The most serious symptom of this disease is experiencimg difficulties in breathing as a result of severe and frequent lung infections. These infections can be treated with proper medications such as antibiotics. There are other symptoms which signify the Cystic Fibrosis infection, these include poor growth, infertility, and sinus infection (Hodson & Geddes, 1995).

Cystic Fibrosis results from a mutation in the gene protein CFTR (Fibrosis Transmembrane Conductance Regulator). This protein has the task of regulating the components of digestive fluids, sweat, and mucus. CFTR is also responsible for regulating the movement of sodium and chloride ions across epithelial membranes. These epithelial membranes include the alveolar epithelia which are found in the lungs. Persons who are not suffering from Cystic fibrosis have two copies of CFTR gene (Hopkin, 1998). However, prevention of Cyst Fibrosis only requires one gene of CFTR; this is because of the recessive nature of this disease. Pathopsychology explains the physiological mechanisms where these abnormal conditions develop. Cystic fibrosis develops when none of the genes is working normally, which is caused by mutation. This mutation indicates that the gene was altered and became abnormal. This makes the disorder have an autosomal recessive inheritance (Harris & Super, 1995).  This disorder mostly affects people of Caucasians origin. CFTR can undergo several mutations; these different mutations affect the CFTR protein differently. Some mutations are mild while others can cause severe disease. Some mutations produce abnormal proteins that have abnormal utilization of energy.

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