Cystic fibrosis is a disease relating to the exocrine gland function. It involves multiple organ system as a whole, but there are some specific organ dysfunctions caused by this condition. These are the chronic respiratory infections, and pancreatic enzyme insufficiency. There are also some forms of complications that are usually associated with the untreated patients. Pulmonary issues or involvement is found in 90 percent of patients surviving the neonatal period. It has been noted in recent times that the major cause of death relating to the cystic fibrosis is the end-stage lung disease associated with it.
In the affected individuals, we need to understand that the clinical manifestation usually varies. The variation in the clinical manifestation is usually by the age of the patient, especially the age at presentation. The most common gastrointestinal symptom noted with cystic fibrosis are the meconium ileus, abdominal distention, intestinal obstruction, increased frequency of stools, failure to thrive (despite adequate appetite), flatulence or foul-smelling flatus, steatorrhea, recurrent abdominal pain, jaundice and gastrointestinal bleeding. The commonest respiratory symptoms seen in the condition include; cough recurrent wheezing, recurrent pneumonia, atypical asthma, dyspnea on exertion and chest pain.
Regarding genitourinary symptoms include the undescended testicles or hydrocele, delay secondary sexual development and amenorrhea. The physical signs associated with cystic fibrosis usually vary with the degree of organ involvement and how the disease is progressing. Those physical signs noted in nasal region or nose include the rhinitis or nasal polyps while those seen relating to the pulmonary systems are the signs of tachypnea, respiratory distress which is mainly associated with retractions, wheezing or some forms of crackles. Other pulmonary physical signs are dry or productive cough, increased anterioposterior chest diameter, clubbing, cyanosis, and percussion. The gastrointestinal signs are the abdominal distention, hepatosplenomegaly, rectal prolapse, dry skin and cheilosis.
The main cause of cystic fibrosis has been found to be a defect in the CFTR gene. This gene has been found to make a protein which is responsible for the control of the movement of salt and water in and out of our body cells. In patients with the condition, the findings observed is that that CFTR gene produces some proteins that are not effective in their function. As a result this inefficiency of the produced proteins, thick, sticky mucus and very salty sweat are made.
The CFTR gene deficiency also affects some other parts of the body in various ways. The result of this is what is seen in cystic fibrosis as a multiple organ affectation with several symptoms. The CFTR genes are inherited from the parents. Faulty genes must be inherited from both parents for the disease to ensue. In case the child inherits only one faulty gene, that child will not show any symptoms of cystic fibrosis and live normal lives.
The issue with such child with the single inherited faulty CFTR gene is that such can be transferred to their children. The disease affects both sexes and people of all races, but tend to be seen more in Caucasians of northern European descent, Latinos and American Indians (National Institute of Health, 2013). More than 10 million Americans are carriers of the faulty CFTR gene (National Institute of Health, 2013).
A definitive diagnosis of the cystic fibrosis must be made by either positive genetic testing or positive sweat chloride test findings before management protocol is instituted. To make such diagnosis, apart from the positive test, there must either be chronic obstructive pulmonary disease, documented exocrine pancreatic insufficiency or positive family history. Sweat chloride test greater than 60mmol/L of chloride is diagnostic while imaging studies could be from the chest, sinus or abdomen radiographs, CT scans of the chest, or ultrasonography or the use of contrast barium enema. Other useful tests that could help in achieving a definitive diagnosis are the genotyping, pulmonary function test, sputum microbiology, bronchoalveolar lavage and immunoreactive trypsinogen.
Radiographic appearance of cystic fibrosis is shown below
Cystic fibrosis, thoracic. Young man with a history of cystic fibrosis has hyperinflation and predominantly upper lobe bronchiectasis (Eleni & Eugene, 2013).
Cystic fibrosis, thoracic. Lateral chest radiograph shows flattened hemidiaphragms, increased retrosternal clear space (overaeration) (Eleni & Eugene, 2013).
Cystic fibrosis, thoracic. Erect abdominal radiograph shows multiple, small intestinal fluid levels in association with localized bubbly fecal material in the right lower quadrant (Eleni & Eugene, 2013).
Below are the CT scan images of cystic fibrosis
Cystic fibrosis, thoracic. High-resolution CT scan shows moderately extensive bronchiectasis at the level of the upper lobes (Eleni & Eugene, 2013).
Cystic fibrosis, thoracic. High-resolution CT scan of each upper lobe in the same patient as in the previous image confirms thick bronchial walls, bronchiectasis, and inspissated mucus in ectatic bronchi (Eleni & Eugene, 2013).
Cystic fibrosis, thoracic. High-resolution CT image shows bronchial wall thickening (tram lines), predominantly in the upper lobes (Eleni & Eugene, 2013).
Histological appearance of Brunner's glands in human proximal duodenum tissues from healthy controls, celiac disease, and cystic fibrosis (CF; Δ508 CFTR)
In terms of management of the cystic fibrosis the primary goal relate to the need to maintain the lung function as effectively as possible by controlling the associated respiratory infection and clearing the mucus. The second goal is to administer nutritional therapy such as the enzyme supplements, multivitamin and mineral supplements to maintain adequate growth in the affected patient. The third goal is to manage any associated complication. Management depends majorly on the severity of the symptoms. In case of mild acute pulmonary exacerbations, such disease state can be managed at home. Those important measures that will be instituted for the patient is by; increasing the frequency of airway clearance, chest physical therapy, inhaled bronchodilator treatment, use of mucolytic agent and the use of antibiotics.
It is essential to consider the multisystem aspect or nature of the cystic fibrosis in the management unless the result will be suboptimal. CFTR modulators known as Ivacaftor (VX-770) is a small molecular weight oral drug which is being produced to manage patient with the G551D mutation in one of the CFTR genes. This drug has a wide range of beneficial effects which significantly help patients to treat the cystic fibrosis symptoms (Richard, George & Alison, 2014). Stanford researchers in their studies have established some form of new sweat tests for cystic fibrosis, which has been noted to lead to more treatments (Becky, 2014).
The strategy is somewhat different from the older method or style of management simply because the older methods depend on focusing on the symptoms of the lesion as it appears. This makes the condition a little bit difficult to control it simply because the underlying issue is not being targeted. The sweat test is developed based on strategies whereby the ratio between the two types of sweat are analyzed using dyes. The differences found as regards to the volume reveals an individuals CFTR levels. The result of the study is yet to be fully proved to treat the CFTR gene problem as needed (Becky, 2014). Another major management protocol that has been found to be very efficient in managing some of the symptoms of the cystic fibrosis is the provision of hypertonic saline for the affected individual, especially those patients that are 6 years old and above (Girish, 2014).
This helps these sets of patients to improve their lung functions and also the associated increased exacerbations. There is another aspect of the treatment that is noted to be essential in managing the childhood associated bone mineral density loss that is seen in cystic fibrosis patients. The diet and exercise is also essential for the management of the condition. Diet with additional energy and unrestricted fat intake is important for such affected individual. High energy and high fat diet will help those patients to compensate for cases of associated malabsorptions.
Becky, B. (2014). Stanford researchers' new test for cystic fibrosis may lead to more treatments. Standford report. Standford News.
Eleni, G. & Eugene, C. (2013). Cystic fibrosis imaging. Medscape.
Girish, S. (2014). Cystic Fibrosis Treatment & Management. Medscape.
Richard, S., George, M., & Alison, H. (2014). http://www.uptodate.com/contents/cystic-fibrosis-overview-of-the-treatment-of-lung-disease