Background historical timeline
As early as in the middle age period, salty skin was linked to the destruction of the pancreas and young children who had the signs were thought to be victims of witchcraft, yet this was a mild form of cystic fibrosis. The index current disease description was done in 1938 by Dorothy Andersen, a pathologist. During these early years, the morbidity and mortality rates were relatively higher than the present time; this led to the development of a guide to diagnose and manage cystic fibrosis by the cystic fibrosis foundation in 1963. At that time, sweat testing was the basic means used in diagnosing CF. Excess salt in the sweat indicated the presence of the disease. This test is still used today as well. Doctors also checked other symptoms such as persistent colonization with pathogens such as staphylococcus aureus, among other organisms. In 1989, the Cystic fibrosis transmembrane Receptor gene was identified as the cause of CF. This discovery made diagnosis more accurate, and scientists found out that F508del gene mutation was the cause of CF (Mohan, 2018).
Discoveries associated with the origin of the disease have resulted in therapeutic breakthroughs, which have improved the survival chances of individuals with cystic fibrosis. Survival improved from around 6years in the 1960s to about 45years in 2019, with an average increase in a survival rate of about 2.1% annually. The advancements in nutritional therapies, better airway clearance agents and effective antibiotics have contributed immensely to improved survival chances (Sandar, 2021).
The primary contributing factors to cystic fibrosis (infections, exposure, heredity, mutations and environmental insults)
Cystic fibrosis is a genetic disease; therefore, it is inherited from the parents. Because of this, the primary contributing factor to acquiring this infection is the family history of having a member harboring the disease. Additionally, it has been documented that cystic fibrosis is frequently observed in white people of northern European origin. Therefore, if an individual has a historical origin from Northern Europe, they have a higher chance of developing cystic fibrosis (Goodno, 2018).
The causes, signs and symptoms
Cystic fibrosis results from disruption of the channel that transports chloride ions and is monitored by cyclic adenosine monophosphate. The disruption of the channel is due to an abnormality in the gene that codes for a membrane protein called CFTR. This membrane serves as a chloride channel and is monitored by the cyclic adenosine monophosphate (cAMP). Thus, changes in the CFTR gene cause abnormalities of cAMP-regulated chloride transport, leading to cystic fibrosis disease.
When cystic fibrosis attacks the respiratory system, the patient may present with certain symptoms such as cough (productive or non-productive), repeated wheezing, symptoms of pneumonia and symptoms of the atypical asthmatic patient may also show up.
The patient may further present with dyspnea on exertion and Chest pain secondary to ischemic heart disease, which might have resulted from an inadequate oxygen supply to the cardiac muscles. On physical examination, the patient may present with various signs depending on the severity of the disease on specific organs; for instance, there may be rhinitis and nasal polyps on inspection of the nose. On inspection of the pulmonary system, the patient may show signs of tachypnea alongside retractions. On auscultation, crackle sounds may be heard, possibly due to fluid accumulation in the lungs. The patient may present with a productive or non-productive cough (if productive with mucoid or purulent sputum). Since the patient has difficulties breathing, the anteroposterior chest diameter may be enlarged to compensate for breathing.
On further inspection of the buccal mucosa and periphery of the entire body, a doctor may observe central cyanosis and peripheral cyanosis, respectively, secondary to the failing respiratory system hence tissue hypoperfusion. Finger clubbing may be observed on close inspection following the loss of the Schamroth’s window between any two digits brought together. On percussion of the chest, the patient may present with hyper resonant due to pneumothorax in the case of accumulation of air in the chest cavity (Sandar, 2021).
Detection and diagnostic/laboratory tests
The standard cystic fibrosis diagnostic test involves either performing genetic testing, which turns out to be positive or testing for chloride levels in sweat, which should be any value in the range of 39.5 mmol/L to 59.5 mmol/L, thus in outliers from the above range is pathological. Imaging investigations may also include radiography for the chest, sinus and abdomen. The physician may consider testing for the functionality of the lungs and sputum culture (Mohan, 2018).
Prevention and treatment measures
The only working preventive measure is genetic testing and counselling, enabling early diagnosis in parents and preventing any chances of transmitting the disease to their offspring (Mohan, 2018). The goal of CF therapy is to maintain the function of the lung by monitoring infections in the lungs and wiping out mucus from the respiratory airway. The patients are also given nutritional therapy such as mineral supplements, enzyme supplements and multivitamins to enhance development.
For complicated CF, frequently clearing the airway of mucus and using Inhaled bronchodilator has produced desirable results in the past. Chest physical therapy and postural drainage can also be done. There are many pharmacological agents in the management of CF. Some of these specific drugs include fluoroquinolone antibiotics, including administration of Multivitamins, Mucolytic, Nebulized, or parenteral antibiotics, Bronchodilators, Anti-inflammatory agents, Agents devised to reverse abnormalities in chloride transport. Some patients may need Inhaled hypertonic saline and surgical therapy to manage respiratory complications such as accumulation of air or fluid in the lungs, blood in the sputum, sinusitis, nasal polyps, and Lung transplantation the case of end-stage lung infection (Katzung, 2017).
Goodno, W. C. (2018). The practice of medicine, vol. 2: With sections on diseases of the nervous system; diseases of the circulatory, respiratory, urinary, and digestive systems, diseases of the blood and constitutional and parasitic diseases (classic reprint). Forgotten Books.
Katzung, B. G. (2017). Basic and Clinical Pharmacology (14th Ed.). McGraw-Hill Education.
Mohan, H. (2018). Textbook of pathology (8th Ed.). Jaypee Brothers Medical.
Sandar, S. H. (2021). Textbook of pathology. B Jain.