Cystic Fibrosis

Cystic Fibrosis
Cystic Fibrosis is an inherited disease of secretory glands that make mucus and sweat. Cystic fibrosis mostly affects the lungs, pancreas, liver, intestines, sinuses, and sex organs. In this disease the mucus made by glands is thick and sticky.
The mucus in the lungs blocks the airways and causes repeated bacterial infections to damage the lungs. Over time, these infections can severely damage the lungs.
The secretions of pancreas gland too become thick and block the ducts in the gland thus preventing the flow of the digestive enzymes to the intestines where they have to help in the digestive process. Thus the digestion of food in the intestines is hampered resulting to deficient absorption of proteins and fats and causing vitamin deficiency and malnutrition because nutrients leave your body unused. It also can cause bulky stools, intestinal gas, a swollen belly from severe constipation, and pain or discomfort.
Cystic Fibrosis causes the sweat to become too salty and as a result the body loses too much of salt while sweating causing dehydration, weakness, low blood pressure and many related problems due to loss of salt.
Infertility in men, Diabetes, osteoporosis are also problems in this disease. It also makes harder for women to get pregnant.
Those who have this disease need to inherit faulty genes from both their patents.A defect in the CFTR gene causes cystic fibrosis. This gene makes a protein that controls the movement of salt and water in and out of body’s cells. In people who have cystic fibrosis, the gene makes a protein that doesn’t work right. This causes thick, sticky mucus and very salty sweat.Every person inherits two CFTR genes—one from each parent. Children who inherit a faulty CFTR gene from each parent will have cystic fibrosis.Children who inherit a faulty CFTR gene from one parent and a normal CFTR gene from the other parent will be “CF carriers.” Cystic fibrosis carriers usually have no symptoms of cystic fibrosis and live normal lives. However, carriers can pass the faulty CFTR gene on to their children.Cystic fibrosis is one of the most common inherited diseases among Caucasians.


  • Most children with CF are diagnosed by age 2. A small number, however, are not diagnosed until age 18 or older. Symptoms differ from person to person depending upon the severity of the disease.
  • Symptoms in new born include: No bowel movements in first 24 to 48 hours of life. Salty tasting skin.

  • Severe constipation and pain abdomen. Increased gas, bloating of abdomen. Nausea and loss of appetite. Pale or clay coloured stool, foul smelling, have mucus. Stool float in water.
  • Weight loss
  • Frequent bouts of bronchitis and pneumonia. Lung infections caused by unusual germs that don’t respond to standard antibiotics. Lung infection with Pseudomonas is more common in patients of Cystic Fibrosis. As cystic fibrosis gets worse, more serious complications develop, such as pneumothorax , or collapsed lung; or bronchiectasis.
  • They develop nasal polyps.
  • As cystic fibrosis gets worse, other complications may occur like: Pancreatitis, Rectal prolapse, Liver disease , Diabetes, Gallstones.
  • Men who have cystic fibrosis are infertile because they’re born without a vas deferens. This is the tube that delivers sperm from the testicle to the penis.
  • A woman who has cystic fibrosis may have a hard time getting pregnant because of mucus blocking her cervix or other cystic fibrosis complications.
  • Because of excessive salt loss: Dehydration , Increased Heart Rate, tiredness, weakness, decreased blood pressure.
  • Low bone density causing osteoporosis. Late in disease, Clubbing of fingers and toes.


  • A genetic test shows whether a newborn has faulty CFTR genes.
  • Tests to show the functions of pancreas.
  • Sweat Test: It measures the amount of salt in sweat. Sweat is collected on a pad or paper and then analyzed. High salt levels confirm a diagnosis of cystic fibrosis.
  • If you’re pregnant, prenatal genetic tests can find out whether your foetus has cystic fibrosis. These tests include amniocentesis and chorionic villus sampling.


Consists of managing the various problems created by this disease.

Chest Infection needs special attention. Various measures towards softening the mucus in the lungs have to be taken. Chest Physical Therapy (CPT) is directed towards helping in softening the mucus in the lungs so as to help in coughing it out. Breathing techniques also help dislodge mucus so you can cough it up.

Oral pancreatic enzymes to help you digest fats and proteins and absorb more vitamins.

Supplements of vitamins A, D, E, and K to replace the fat-soluble vitamins that the intestines can’t absorb.

High-calorie and High Salt diet.

Most cystic fibrosis patients born today live to their mid-30s, but that’s an average. Some succumb to the disease before their 10th birthday, while others live into their 50s.

We already know which gene causes cystic fibrosis, but to a large extent that gene does not by itself explain how severe the condition will be.

Recently, researchers were able to identify two genes on chromosome 11 and also five genes on chromosome 20 linked to severe cases of the disease.

The study was published in Nature Genetics