Cystic Fibrosis

Cystic Fibrosis overview and Definition

Cystic fibrosis is an inherited or genetic disease characterized by the buildup of thick, sticky mucus that can damage many of the body's organs. The disorder's most common signs and symptoms include progressive damage to the respiratory system and chronic digestive system problems. The features of the disorder and their severity varies among affected individuals.

Mucus is a slippery substance that lubricates and protects the linings of the airways, digestive system, reproductive system, and other organs and tissues. The mucous is sticky and this abnormal mucus blocks the airway giving rise to the infections.

Cystic fibrosis mainly affects the lungs but it can also affects the other vital organs such as pancreas, liver, kidney and intestine.

Clinical signs & symptoms

Gastrointestinal (GI) symptoms may include the following:

  • Meconium ileus
  • Abdominal distention
  • Intestinal obstruction
  • Increased frequency of stools
  • Failure to thrive (despite adequate appetite)
  • Flatulence or foul-smelling flatus, steatorrhea
  • Recurrent abdominal pain
  • Jaundice
  • GI bleeding

Respiratory symptoms may include the following:

  • Cough
  • Recurrent wheezing
  • Recurrent pneumonia
  • Atypical asthma
  • Dyspnea on exertion
  • Chest pain

Genitourinary symptoms may include the following:

  • Undescended testicles or hydrocele
  • Delayed secondary sexual development
  • Amenorrhea

Physical signs depend on the degree of involvement of various organs and the progression of disease, as follows:

  • Nose – Rhinitis, nasal polyps
  • Pulmonary system – Tachypnea, respiratory distress with retractions, wheeze or crackles, cough (dry or productive of mucoid or purulent sputum), increased anteroposterior chest diameter, clubbing, cyanosis, hyperresonant chest on percussion
  • GI tract – Abdominal distention, hepatosplenomegaly, rectal prolapse, dry skin, cheilosis


Differential Diagnosis

Chest Xray:

The chest x ray predicts any abnormal area in the lungs

Computed tomography:

It reveals the slice of the lung. It uses both the combination of x ray and computer aided device.

It helps to analyse the size, shape and position of any lung tumour and also it helps in the detection of enlarged lymph nodes.

It also looks for any masses in the adrenal gland, liver, brain and other organs.

 CT guided needle Biopsy:

CT scan might be used to guide a biopsy needle into this  area to get the tissue for cystic fibrosis.

MRI scan:

It uses the soft tissue image of the organ. It uses the both the magnet and radiowaves.

It often reveals whether the cancer cells has spread to the brain or spinal cord.

Positron emmisison tomography:(PET)

 A radioactive form of sugar in injected into the blood and the positron are emitted to reveal the cancer site.

They can detect if the cancer cell has spread anywhere.

Sputum cytology:

Sputum(mucus cough up from the lungs) is checked. The best way to obtain the sputum is from early morning sample. This test helps to find out the the abnormalities in the major airways of the lungs.


A needle is inserted between the ribs and the sample from pleural fluid is taken.

Sweat chloride test:

Several methods are used to conduct a sweat test. Performed properly, the quantitative pilocarpine iontophoresis test (QPIT) to collect sweat and perform a chemical analysis of its chloride content is currently considered to be the only adequately sensitive and specific type of sweat test.

Fine needle aspiration (FNA) biopsy:

A needle is used to aspirate small fragments of tissues. It is used for involvement in the lymph node in the lungs.

Transtracheal or transbrochial FNA:

It is done by passing the needle through the walls of the trachea or bronchi during bronchoscopy or endobronchial ultrasound.

Transthoracic needle biopsy:

It is used to find out if the tumour is present outside the tumour.


It  a procedure that uses a lighted tube inserted behind the sternum (breast bone) and in front of the windpipe to look at and take tissue samples from the lymph nodes along the windpipe and the major bronchial tube areas. If some lymph nodes can’t be reached by mediastinoscopy, a mediastinotomy may be done so the surgeon can directly remove the biopsy sample. For this procedure, a slightly larger incision (usually about 2 inches long) between the left second and third ribs next to the breast bone is needed.


Bronchoscope is a thin lighted instrument used to view the lungs. The physician passes the tube through the trachea then the bronchus and alveoli are viewed clearly.

Contrast barium enema:

The barium is ingested into the patients and then the x ray is taken. It is used to get the clear images.


The survival rate is higher in males when compared to females. With development of advanced treatments the patient can survive beyond adulthood.


Cystic fibrosis cannot be prevented.  Genetic testing can be done if there is a familial history.