Cystic Fibrosis Signs Symptoms and Treatment
Cystic Fibrosis
Cystic fibrosis is a heterogeneous recessive multisystem genetic disorder which is the result of mutations of a gene present on chromosome 7.
Classic cystic fibrosis is a disease of exocrine gland function and characterized by chronic airway infection, fat maldigestion due to pancreatic enzymes insufficiency, infertility in males due to obstructive azoospermia, and elevated concentrations of chloride in sweat.
Patients with nonclassic cystic fibrosis have at least one copy of a mutant gene that confers partial function of the CFTR protein, and such patients usually have no overt signs of maldigestion because some pancreatic exocrine function is preserved.
Clinical Presentation.
Respiratory Signs :A persistent Cough that produces thick mucus. (sputum)
Wheezing
Dyspnea
Increased AP diameter
Repeated lungs infections.
GIT Signs.
Thick mucus can block tubes that carry digestive enzymes from pancreas to small intestine. The result is often :
Foul smelling greasy stools
Poor weight gain and growth
Meconium ileus
Severe constipation.
Diagnosis.
CF diagnosis is based upon either positive genetic testing or positive sweat chloride test and one of the following findings :1) Typical chronic obstructive pulmonary disease.
2) Documented exocrine pancreatic insufficiency.
3) Positive family history.
Sweat Chloride Test.
The refrence value is < 40mmol/LA value > 60mmol/L of chloride is consistent with CF.
A value of 40-60mmol/L is considered borderline and the test must be repeated.
In babies aged 3 months or younger, a value of 30-60mEq/L is considered borderline and requires retesting.
Radiography.
Chest X-rays are insensitive to the early changes of CF. Later changes include :Hyperinflation
Bronchiectasis
Lobar collapse
Pulmonary arterial enlargement due to pulmonary arterial hypertension is seen in patients with long-standing disease.
Protein Function and Biochemistry.
CFTR controls chloride ion movement in and out of the cell.Treatments and Drugs
• Antibiotics to treat and prevent lung infections
• Mucus-thinning drugs to help you cough up the mucus,
which improves lung function
• Bronchodilators to help keep your airways open by relaxing
the muscles around your bronchial tubes
• Oral pancreatic enzymes to help your digestive tract absorb
nutrients.
• Chest Physical Therapy
• Pulmonary rehabilitation
• Surgical and other procedures like Nasal polyps removal,
oxygen therapy, lung transplant, bowel surgery
The only way to cure CF would be to use gene therapy to replace the defective gene or to give the patient the normal form of the protein before symptoms cause permanent damage.
The major goal in treating CF is to clear the abnormal and excess secretions and control infections in the lungs and to prevent obstruction in the intestines.
For patients with advanced stages of the disease, a lung transplant operation may be necessary.
Although treating the symptoms does not cure the disease, it can greatly improve the quality of life for most patients and has, over the years, increased the average lifespan of CF patients to 30 years.
Gastrointestinal Treatment
Modified dietDue to pancreatic disorders, children with CF require a modified diet, including vitamin supplements (vitamins A, D, E, and K) and pancreatic enzymes. Maintaining adequate nutrition is essential. The diet calls for a high-caloric content (twice what is considered normal for the child's age), which is typically low in fat and high in protein. Patients or their caregivers should consult with their healthcare providers to determine the most appropriate diet.
Gene Therapy
Gene therapy is the use of normal DNA to "correct" for the damaged genes that cause disease.
In the case of CF, gene therapy involves inhaling a spray that delivers normal DNA to the lungs.
The goal is to replace the defective CF gene in the lungs to cure CF or slow the progression of the disease.
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