Cystic Fibrosis

Institutional Affiliation
Cystic Fibrosis
Abstract
Cystic fibrosis (CF), also referred to as mucoviscidosis is a non
curable and life-threatening inherited disorder affecting the lungs,
intestine, liver as well as the pancreas. The disease originates from a
flawed gene that makes the body to generate unusually sticky and thick
fluid referred to as mucus. It is notable that, the main signs and
symptoms of the disorder encompass poor growth, salty skin, poor weight
gain, and building up of sticky, thick mucus, shortness of breath,
coughing or recurrent chest infections. Infertility is another symptom
and it affects both women and men. Some of the methods, which can be
applied to cure the disease include therapies, antibiotics in order to
prevent sinus and lung infections. Other treatment methods for cystic
fibrosis which does not involve the use of medicines include taking
plenty of fluids physical exercises such as cycling, jogging and
swimming avoiding inhaling dust, household chemicals, mildew or mold,
fireplace smoke, dirt, and shunning smoking
Cystic fibrosis (CF), also referred to as mucoviscidosis is a non
curable and life-threatening inherited disorder affecting the lungs,
intestine, liver as well as the pancreas (Mogayzel & Flume, 2010). The
disease is characterized by mucus accumulating in these organs and the
disease is believed to be among the most widespread chronic diseases in
adolescent and children. The thick secretions are produced due to the
transport of sodium and chloride across the epithelium. Cystic fibrosis
delineates the cyst and scar formation in the pancreas which was
initially documented in 1930s (Bobadilla et al. 2002). One of the major
and severe symptoms is difficulty in breathing which is brought about by
recurrent lung infections, and these can be treated by the use of
medications. Other symptoms encompass poor growth, sinus infections, as
well as infertility. The disorder is common amongst Caucasians. Studies
indicate that one in every twenty five European persons carries a single
allele for cystic fibrosis (Bobadilla et al. 2002). According to the
World Health Organization (WHO), one in 2000 to 3000 infants in the
European Union are affected by the disorder (Mogayzel & Flume, 2010).
Genetic testing or sweat tests are some of the diagnosis that can be
used to diagnose CF, with lung transplantation required in case the
disease deteriorates.
Causes, Occurrence, and Risk Factors
Cystic fibrosis originates from a flawed gene that makes the body to
generate unusually sticky and thick fluid referred to as mucus (Farrell,
et al. 2008). When the mucus accumulates in the lungs, it causes
difficulties in breathing. Other organs that are affected include the
pancreas, intestine and the liver. This results to difficulties in food
break down as well as absorption. The building up of the sticky and
thick mucus causes serious lung infections and severe digestion issues.
The reproductive system of a man can also be affected resulting to
infertility.
The alteration of the ‘Cystic fibrosis transmembrane conductance
regulator’ (CFTR), a protein gene that is responsible in regulating
the elements of digestive fluids, sweat, and mucus is what causes CF
(Farrell, et al. 2008). Besides, CFTR has a role of regulating the
movement of sodium and chloride ions in the epithelial membranes,
including the alveolar epithelia situated in the lungs. The recessive
nature of the disorder requires the presence of one CFTR gene in order
to prevent the development of cystic fibrosis. The majority of children
with cystic fibrosis are detected by the age of two years. Early
diagnosis is important as treatment can be initiated at an early stage.
Signs and Symptoms
The main signs and symptoms of the disorder encompass poor growth, salty
skin, poor weight gain, and building up of sticky, thick mucus,
shortness of breath, coughing or recurrent chest infections (Stern,
1997). The congenital lack of vas deferens can result to infertility in
men. Symptoms in children and infants include bowel impediment as a
result of meconium ileus. Growth failure in children is recognized by
lack of gaining height or weight and occasionally, it is not detected
unless a poor growth examination is instigated. Poor growth is caused by
various factors including chronic lung infection, amplified metabolic
demand attributable to chronic illness, and poor absorption (Stern,
1997).
Lung disease develops when the airways are clogged by the accumulation
of mucus, reduced clearance of mucociliary, and consequential
inflammation (Mogayzel & Flume, 2010). Infection and inflammation result
to structural modifications and injury to the lungs. Some of the
apparent symptoms as a result of this include persistent coughing,
reduced capability of exercising, and production of abundant phlegm. A
lot of these symptoms come about when the bacterium that dwells in the
sticky mucus develops and cause pneumonia. These symptoms are apparent
during the early stages.
In the later periods, such symptoms as severe breathing difficulties,
hemoptysis (coughing blood), pulmonary hypertension (high blood
pressure), hypoxia, heart failure, and respiratory failure are evidenced
(Mogayzel & Flume, 2010). The latter necessitates the patient to be
supported with inhalation masks including ventilators. Lung infection in
patients suffering from cystic fibrosis is usually caused by Haemophilus
influenzae, Staphylococcus aureus, and Pseudomonas aeruginosa (Stern,
1997).
Infertility is another symptom and it affects both women and men. As a
minimum, 97 percent of men suffering from CF are infertile. This
infertility is caused by congenital deficiency of vas deferens, and by
other factors including causing teratospermia, azoospermia, and
oligoasthenospermia (Stern, 1997). Infertility in women is caused by
malnutrition or congealed cervical mucus. In serious cases, ovulation is
disrupted by malnutrition causing amenorrhea.
Treatment and Management
Even though the cure for cystic fibrosis does not exist, there are a
number of treatment methods that can be used. Studies reveal that the
management of the disorder has enhanced considerably in the last seventy
years (Kliegman & Kliegman, 2006). Current improvements in the treatment
of the disorder imply that persons with CF can live quality and fuller
life and be lowly burdened by their state. The basis of management
includes practical management of airways illness, in addition to
encouraging the intake of good nutrition and living an active life
(Farrell et al. 2008). Management of the disorder persists all through
the life of a patient. It is intended for maximizing the functioning of
the organs, and thus, life quality. Contemporary treatment and
management impede the decline in the functioning of the organ. The ample
dissimilarity in disorder symptoms necessitates the treatment to be
provided by a specialist and directed to the patient (Kliegman &
Kliegman, 2006). Therapies target various organs including the lungs,
reproductive organs, and gastrointestinal tract. Psychological support
for the patient is also essential. These therapies encompass gene
therapy and transplantation therapy which are intended to treat various
impacts of CF and initiate regular CFTR to the airway (Borowitz et al.
2009).
Quality of life as well as the survival of the patient can be improved
by early diagnosis of the disorder and an inclusive treatment plan. CF
specialty clinics should be used to care for the patients with the
disorder. In order to treat lung problems, the following treatments
should be used.
Hypertonic saline
Antibiotics in order to prevent sinus and lung infections while treating
the same
DNAse enzyme therapy and aerobic exercise which assist in thinning mucus
Inhaling medicines which assist in opening the airways
Use of oxygen therapy incase the lung disease deteriorates
Pneumococcal Polysaccharide Vaccine (PPV) and Flu vaccine
Lung transplant
(Borowitz et al. 2009)
Nutritional and bowel problems can be treated by:
Pancreatic enzymes which assist in absorbing proteins and fats
Adults and older children are required to take a diet rich in calories
and proteins
Use of vitamin supplements, and particularly vitamins A, D, and E.
(Farrell et al. 2008)
Other treatment methods for cystic fibrosis which does not involve the
use of medicines include taking plenty of fluids physical exercises
such as cycling, jogging and swimming avoiding inhaling dust, household
chemicals, mildew or mold, fireplace smoke, dirt, and shunning smoking
(Bobadilla et al. 2002).
References
Bobadilla, J.L., Macek, M., Fine, J.P. & Farrell, P.M. (2002). Cystic
fibrosis: a worldwide analysis of CFTR mutations—correlation with
incidence data and application to screening. Hum. Mutat. 19 (6):
575–606.
Borowitz, D., Robinson, K.A. & Rosenfeld, M. (2009). Cystic Fibrosis
Foundation evidence-based guidelines for management of infants with
cystic fibrosis. J Pediatr. 155(6):S73-93.
Farrell, P. M, Rosenstein, B. J, White, T. B. (2008). Guidelines for
diagnosis of cystic fibrosis in newborns through older adults: Cystic
fibrosis consensus report. Journal of Pediatrics, 153 (2).
Kliegman, R. & Kliegman, R.M. (2006). Nelson essentials of pediatrics.
St. Louis, Mo: Elsevier Saunders.
Mogayzel, P. J. & Flume, P. A. (2010). Update in cystic fibrosis 2009.
Am J Respir Crit Care Med, 181(6):539-44.
Stern, R.C. (1997). The diagnosis of cystic fibrosis. N. Engl. J. Med.
336 (7): 487–91.
CYSTIC FIBROSIS
PAGE
* MERGEFORMAT 2
CYSTIC FIBROSIS
PAGE *
MERGEFORMAT 1

BACK TO TOP