Cystic Fibrosis - Symptoms - CFTR mutation - Diagnosis - Treatment - Prognosis

The severity of the symptoms of Cystic Fibrosis (CF) varies between individuals. In some CF is very severe and manifests in early childhood while in others the disease is mild and does not reveal itself until adolescence or early adulthood sets in.

The symptoms of CF can vary between mild and severe, with time. As the disease progresses, the severity of the disease increases too.

The first signs of cystic fibrosis may be detected by the parents who, on kissing the baby, discover that the baby's skin tastes salty. Another evidence appears when the new born baby does not pass stool due to an intestinal block common to babies with CF.

All the symptoms and signs will eventually appear, some of which are listed below -

a) Respiratory:-

• Excessive mucus blocks the airways and promotes bacterial growth and infection. This leads to severe breathing problems. 

• Blocked airways causing excessive coughing up of thick sputum
• With time, the lungs become permanently damaged leading to respiratory failure which is cited as the most common cause of death in CF- affected individuals.

• Frequent bouts of sinusitis.

• Growth (polyp) in the nose that may require surgery.

b) Digestive-

• Excessive mucus can also block the ducts or tubes in the pancreas thereby preventing the pancreatic digestive enzymes from reaching the intestine. This affects the absorption of fats and proteins from food.

• Newborns with CF may present with bulky, greasy or foul-smelling stools, constipation and intestinal gas or diarrhea. This is due to an intestinal blockage in them which, very often, leads to pain and discomfort too.

• Vitamin insufficiency and even malnutrition is frequently observed in CF patients.

• Pancreatitis, gall-stones, liver disease and rectal prolapse (due to coughing) are also common features in CF patients.

c) Reproductive

• Infertility in men due to the lack of vas deferens.

• CF can make it difficult for women to get pregnant because of mucus accumulation in the cervix or, due to other complications.

d) Other symptoms

• Salty sweat as a result of which the body loses large amounts of salt and minerals, while sweating. This can cause a range of health problems such as dehydration, palpitations, weakness, fatigue, increased heart rate, decreased blood pressure, heat stroke, and, in rare cases, death.

• Predisposition to diabetes. 

• Clubbing of fingers and toes.

• Low bone density and eventually osteoporosis in the patient.