The etiology of cystic fibrosis A five-month-old Caucasian female is brought into the clinic as the parent indicates that she has been having ongoing foul-smelling, greasy diarrhea. She seems to be small for her age and a bit sickly but, her parent’s state that she has a huge appetite. Upon examination, you find that the patient is wheezing and you observe her coughing. After an extensive physical exam and workup, the patient is diagnosed with cystic fibrosis.

Process of Cystic Fibrosis

The Etiology of Cystic Fibrosis

“Life is not measured by the number of breaths we take, but by the jiffy that takes our breath away.” (Maya Angelou). Cystic fibrosis (CF) is a hereditary disorder that causes damage to the lungs, digestive system and other organs in the body. It affects the cells that manufacture mucus, sweat and digestive juices (Goetz & Ren, 2019). It causes these fluids to become thick and sticky. They then plug up tubes, ducts and passageways. Symptoms vary, including cough, continuing lung infections, weight loss, and fatty stools. Treatments may ease symptoms and reduce complications. Newborn screening helps with early diagnosis. Cystic fibrosis is brought about by a faulty gene that a child acquires from both parents (Bell et al., 2020). The faulty gene means some cells fight to move salt and water across the cell wall. This essay will focus on the pathophysiological process of cystic fibrosis, the pathophysiology of complications of cystic fibrosis, and finally, look at the teaching to provide related to the diagnosis of the patient.

The Pathophysiological Process of Cystic Fibrosis

Cystic Fibrosis is a genetic disorder that develops due to changes in the Cystic Fibrosis Transmembrane Conductance Regulator gene, which makes a protein responsible for epithelial ion transport and this can disrupt trans epithelial ion movement and the subsequent epithelium within a range of organs, including the respiratory system, pancreas, reproductive system, and sweat glands (Rout-Pitt et al., 2018). Changes in the CF gene cause the absence or dysfunction of the cystic fibrosis transmembrane conductance regulator protein, which works as a chloride canal in the apical membranes of epithelial cells. The CFTR also affects the production of mucus, secretory granules and intracellular organelles. The building up of mucus in the lungs damages lung tissues, leading to lung problems and difficulties in breathing. When it comes to the pancreas, the accumulated mucus causes the pancreas not to produce insulin as required leading to poor absorption of vitamins and nutrients, which causes poor growth (Pobłocki et al., 2020). Other organs of the body which get affected by cystic fibrosis are the sweat gland and the reproductive system, leading to salty sweat and infertility in men, respectively. The pathophysiological process of fibrosis is all about the improper functioning of cystic fibrosis transmembrane conductance regulator (CFTR) protein, where a thick mucus builds up in some body organs, leading to harmful health condition.