Pathophysiology: Cystic Fibrosis Essay.

Pathophysiology: Cystic Fibrosis Essay.

Pathophysiology: Cystic Fibrosis Essay., ,A mother brings her 6-month-old daughter to the HCP for evaluation of possible colic. The mother says the baby has had many episodes of crying after eating and, despite having a good appetite, is not gaining weight. The mother says the baby’s belly “gets all swollen sometimes.” The mother says the baby tastes “salty” when the mother kisses the baby. Further work up reveals a diagnosis of cystic fibrosis. The mother relates that her 23-month-old son has had multiple episodes of “chest congestion” and was hospitalized once for pneumonia. The mother wants to know what cystic fibrosis is and she also wants to know if she should have any more children. Pathophysiology: Cystic Fibrosis Essay.,Post an explanation of the disease highlighted in the scenario you were provided. Include the following in your explanation: • The role genetics plays in the disease. • Why the patient is presenting with the specific symptoms described. • The physiologic response to the stimulus presented in the scenario and why you think this response occurred. • The cells that are involved in this process. • How another characteristic (e.g., gender, genetics) would change your response.,Cystic fibrosis is the commonest multisystem disease that shortens life with an autosomal recessive pattern of inheritance. Primarily, cystic fibrosis involves the pancreas and lungs but organs of the reproductive system, the liver, upper airways, and intestines may be involved. (Borowitz, 2015). It occurs when there is inheritance of two mutated copies of the CFTR gene (Zemanick & Hoffman, 2016). The gene can be heterozygous, homozygous, or both and lead to bearing a child with cystic fibrosis.Pathophysiology: Cystic Fibrosis Essay.,The CFTR gene is in protein form and acts to maintain a cellular balance of water and salt. However, a CFTR gene mutation as it occurs in cystic fibrosis causes a dysfunction in the balance of water and salt (Zemanick & Hoffman, 2016). As a result, a child experiences dehydration of secretions (thick and sticky mucous) and excess loss of salt in sweat hence the baby reportedly ‘tastes salty’. In the digestive system, a CFTR gene mutation disrupts the balance and consistency of mucus causing it to be sticky and thick. The mucus blocks channels transporting digestive enzymes to facilitate the digestion of food hence the inability to absorb nutrients properly, particularly fats (Gibson?Corley et al., 2016).  This explains why the child reportedly ‘did not gain weight’. The thick mucus in the respiratory tract causes nasal congestion, wheezing, and other symptoms that mimic asthma. Besides, the trapped germs and thick, sticky mucus serves as a medium for organisms to multiply, causing repeated lung infections (Stoltz et al., 2015). This explains the mother’s explanation of ‘multiple episodes of chest congestion and hospitalization for pneumonia’ for her 23-month-old son.Pathophysiology: Cystic Fibrosis Essay.,Epithelial cells are involved in the pathophysiology of cystic fibrosis by producing CFTR, a defective protein found in the cells lining the GIT tract, lungs, and other systems Although it affects both males and females, its outcome in females is worse due to the presence of the hormone estrogen that promotes the presence of Pseudomonas aeruginosa in their lungs. According to Bhagirath et al., (2016), the presence of the organism increases the difficulty to manage with antibiotics and clears the body’s natural defense causing intense inflammation of the lungs.,Pathophysiology: Cystic Fibrosis Essay.

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