What is Cystic Fibrosis?

Cystic fibrosis is an inherited illness that leads to severe damage to the lungs, sinuses intestinal tract, pancreas and other body parts. Commonest presentation is in early childhood, however, patients can present in late childhood or adulthood. Disease is more common in west, however, it exists in this part of world and is grossly under diagnosed or diagnosed very late.

What Are the Symptoms of Cystic Fibrosis?

Symptoms of Cystic Fibrosis most often point to multisystem involvement. Symptoms also vary according to age of onset of disease. Single system involvement is more common in late childhood or early adulthood. The most common symptoms include:

  • Intestinal blockage, mainly in new-borns (meconium ileus)
  • Severe constipation and repeated intestinal blockage
  • Foul smelling and greasy stools
  • Repeated episodes of abdominal pain due to Pancreatitis
  • Poor weight gain and growth
  • Rectal Prolapse
  • A constant cough that produces thick and copius sputum
  • Repeated chest and sinus infections with multiple organisms
  • Breathlessness, Wheezing and increasing exercise intolerance
  • Infertility in males and reduced fertility in females
  • Diabetes Mellitus
  • Multiple Vitamin Deficiency
  • Multiple fractures and skeletal deformities

Causes of Cystic Fibrosis

Cystic fibrosis happens as an outcome of a defect in what is called the CFTR gene or ‘cystic fibrosis transmembrane conductance regulator’ gene. This gene is known to control the movement of salt and water in and out of the body’s cells. A sudden alteration, or change, in the gene, causes the mucus to become stickier and thicker than it should actually be. This abnormal mucus builds up in various organs throughout the body, including:

  • Lungs
  • Sinuses
  • Intestines
  • Liver
  • Pancreas

Many different faults can disturb the CFTR gene. The type of deficiency is connected to the severity of cystic fibrosis. The damaged gene is carry forwarded to the child from their parents. To have cystic fibrosis, a child is required to inherit one copy of the gene from the mother and father both. If they inherit one copy of the gene from just one parent, then they would not develop the disease. But, they will be a carrier of the defective gene, which means that they may pass the gene on to their own kids.

Diagnosis of Cystic Fibrosis

Cystic Fibrosis should be suspected in newborns with features of intestinal obstruction and later in children with multiple organ symptoms including repeated sinus or chest infections, offensive stools, repeated intestinal obstruction, poor weight gain. Older children and adults may have only single organ involvement. High index of suspicion is very important. Single most important test is increased salt content of sweat. In persons with indeterminate levels of salt content with other features suggestive of possibility of CF, CFTR genetic mutation needs to be studied. Antenatal diagnosis of CF is also possible.

What Are the Treatment Options for Cystic Fibrosis?

CFTR modulators are a class of drugs that have a role in reducing rapidity of progression of the disease to a great extent if introduced early in life. It is possible for specific treatments to help in controlling the symptoms, preventing or reducing complications, and making the illness easier to live with. An individual with cystic fibrosis is usually supported by a team of healthcare professionals at a specialist cystic fibrosis center. A care plan is drawn up that is tailored according to their personal needs. A variety of treatments are used, and often treatment in hospital is required. Regular appointments to monitor the illness is also recommended.

  1. Medications for Lung Problems - An individual with CF needs combination of medications for sino pulmonary infections, clearance and thinning of secretions and improvement in wheezing.
  2. Airway Clearance Techniques - In addition to medication, specific methods are extremely important to keep the sinuses, airways and lungs clear. Physiotherapist plays a very important role in guiding and assisting patient in airways clearing techniques and also in improving effort tolerance.
  3. Dietary and Nutritional Advice - For patients with cystic fibrosis, getting a healthy diet and right nutrition with vitamin supplements keeping malabsorption in mind is crucial in helping them develop normally and preventing them from becoming repeatedly ill. Also, prevention of constipation is very important. All these need a trained nutritionist counseling.
  4. Infertility - Counseling for male infertility and reduced fertility in females helps couples to have successful pregnancy.
  5. Lung Transplants - In advanced lung disease with Cystic Fibrosis Lung Transplant is an important option with good results.

Follow Up Care For Cystic Fibrosis Treatment

Management of Cystic Fibrosis is a team approach that needs a dedicated team of doctors, physiotherapists and nutritionists. Goal should be to guide patients and family about need to prevent complications and slow down progression of disease while treating any complication promptly. This is only possible by regular follow up

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