Cystic Fibrosis: Genetic Disorder - Academic Champion Tutors

Table of Contents

Etiology
Demographics
Anatomy
Physiology and Symptoms
Diagnosis and Treatment
References

Etiology

Cystic fibrosis, also referred to as CF, is a genetic disorder that can affect the respiratory and digestive systems. This health condition is caused by mutations in the cystic fibrosis transmembrane conductance regulator gene that regulates the corresponding protein (National Heart, Lungs, and Blood Institute [NIH], n.d.). This type of protein is found in organs making mucus, including but not confined to the lungs, sweat glands, liver, and pancreas. The development of the condition occurs when a person has a mutation in both copies of the CFTR gene, meaning that both parents have to have such mutations. The development of CF can also be associated with ethnicity. It has been estimated that individuals of northern European heritage are more likely to be affected than African Americans or Hispanics. This disease is comparatively uncommon among Asian Americans (NIH, n.d.). Oates and Schechter (2016) state that although CF is a genetic condition, socioeconomic factors also influence the progression of the disorder.

Demographics

It has been estimated that approximately 35,000 people in the USA have CF (Centers for Disease Control and Prevention [CDC], 2020). At that, over ten million people in the USA are careers of the mutation. As mentioned above, the white population is predominantly affected. For example, in the country, one in 2,500-3,500 of white newborns are diagnosed with CF. It affects one in 17,000 African Americans and one in 31,000 Asian Americans (U.S. National Library of Medicine, 2020). People with CF tend to develop other health conditions such as diabetes or obesity, as well as other disorders such as arthritis, hypersplenism, cirrhosis, osteoporosis, and reflux (CDC, 2020). People can display the symptoms of this illness at any age, but children are the most affected population, and the severity of the disorder often depends on the patients age.

Anatomy

As mentioned above, CF can damage different organs and systems that produce mucus that becomes thick and sticky. The progression of the illness in the respiratory system is associated with the blockage of airways (U.S. National Library of Medicine, 2020). Patients have recurrent respiratory infections due to the clots in the lungs and may also develop nasal polyps (McConnell & Hull, 2020). In the course of the disorder, the lungs are damaged considerably, including the development of scar tissue and cysts (U.S. National Library of Medicine, 2020). When the disease develops in the pancreas, the mucus clogs the ducts of this organ, which decreases enzyme secretion. The mucus blockages may result in the destruction of pancreas cells. If the liver is affected, this organ enlarges, and patients often have a swollen belly. As far as the reproduction system, CF leads to the blockage of sperm canals, so sperms cannot travel out, which leads to infertility in men.

Physiology and Symptoms

The symptoms and signs of the disorder depend on the affected organ, but often have common traits such as frequent infections in the affected organs and chronic conditions, as well as malnutrition and poor growth (CDC, 2020). With affected lungs, people have prolonged cough with thick mucus in many cases, shortness of breath and wheezing, as well as nasal polyps (CDC, 2020). The symptoms of CF in the digestive systems are displayed in the following way: diarrhea or constipation, weight loss, malnutrition, inadequate growth, diabetes, weight gain, greasy stools. When the reproductive system is damaged, infertility is the major symptom of the disease. With other organs and systems affected, people may have joint and muscle pain, salty skin, yellow skin, fever, and toes or fingers clubbing due to insufficient transportation of oxygen to feet and hands (NIH, n.d.). As mentioned above, CF symptoms tend to occur in childhood, but milder forms become apparent in adulthood.

Diagnosis and Treatment

Physicians concentrate on the symptoms and signs mentioned above, as well as screening and tests when diagnosing and developing a treatment plan. The examination and identification of CF symptoms are followed by genetic testing and sweat tests (CDC, 2020). The treatment of this condition focuses on airway clearance, preventing complications, improving the function of the corresponding proteins (NIH, n.d.). Surgery may be needed in case of complications and such outcomes as polyps.

As for clearing airways and addressing breathing problems, diverse techniques can be employed: the use of devices and therapy vests to loosen mucus, training patients to breathe and cough in specific ways, and chest physical therapy (NIH, n.d.). Pharmacological treatment involves the utilization of anti-inflammatory medication to reduce inflammation, antibiotics to treat or prevent infections, bronchodilators to open and relax airways. Mucus thinners to easier the clearance of mucus and CFTR modulators to manage protein functioning are also utilized. In addition, treatment involves healthy lifestyle changes if necessary (NIH, n.d.). Patients diagnosed with CF must quit smoking if they have this habit. Being physically active and having a healthy diet are also important to manage the health condition of CF patients. Physical activity will ensure proper air clearance, muscle strength, mineral density, and lung functioning. The diet will encompass consuming high-energy foods, high-sodium products, and the corresponding supplementation. Clearly, each treatment plan is unique due to the peculiarities of the course of the disorder in a particular case.