Cystic Fibrosis: Long-Standing, Yet Manageable

Introduction

Cystic fibrosis occurs due to a genetic disorder. The accumulation of mucus in various organs like the lungs, stomach, and pancreas results in an inherited disease called cystic fibrosis. The consistency of mucus is thick, and it sticks to the air passages. It affects both children and adults. It is a long-lasting disease. The disease progresses after months and becomes severe. It also affects the sinus, intestines, and liver. It is classified as typical cystic fibrosis and atypical cystic fibrosis. Typical fibrosis affects many organs and occurs in babies during the first few years of life. Atypical fibrosis is mild and affects only one organ.

What Are the Causes of Cystic Fibrosis?

• A child with faulty genes is inherited from its parents. It is referred to as a recessive condition because one gene is acquired from each parent. It affects chromosome 7.

• Some individuals do not have a family history of cystic fibrosis, but the individual is affected. In such conditions, the parent may not be affected by cystic fibrosis; they act as a carrier.

What Are the Symptoms of Cystic Fibrosis?

• Breathing Difficulty - The accumulation of thick mucus obstructs the air passages and causes difficulty in breathing.

• Weight Loss - The tiny ducts in the pancreas get blocked due to the mucus. It interferes with digestion. Babies and young children who are affected by cystic fibrosis are unable to absorb nutrients from food. This leads to a loss of weight.

• Diarrhea - The stools appear loose and oily due to improper absorption and cause diarrhea.

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• Wheezing - The individual gets frequently affected by respiratory infections like sinusitis or inflammation in the sinus and wheezing.

• Cough - The inflammation of the air passages causes coughing. Severe conditions lead to pneumonia. Pneumonia is a condition in which the mucus affects the tiny air sacs.

• Decreased Airflow - The repeated inflammation of the nasal lining leads to the formation of nasal polyps. This obstructs the airflow, and the individual has trouble breathing.

• Physical Exertion - The individual becomes dehydrated and has physical exertion.

What Are the Complications Associated With Cystic Fibrosis?

The complications due to severe cystic fibrosis are as follows:

• The individual affected by cystic fibrosis has fertility issues. Women also have complications during pregnancy.

• It affects the pancreas and reduces insulin production, and causes diabetes in adults. It also affects the growth and development of children.

• Severe cystic fibrosis causes thinning of hard tissues like bone. This condition is known as osteopetrosis.

How Is Cystic Fibrosis Diagnosed?

• Genetic Test - A sample of blood is collected from the patient affected by cystic fibrosis. It is sent to the laboratory for examination. The gene responsible for cystic fibrosis can be identified with the help of a genetic test. It is also used to observe gene mutation.

• Sweat Test - The individual affected by cystic fibrosis has increased chloride levels. It can be assessed with the help of a sweat test. A chemical called pilocarpine is applied to the skin. Then an electric stimulation is given to provoke the sweat glands. The sweat produced is collected and used for the test.

• X-Rays - X-rays are used as a diagnostic measure along with other tests to confirm cystic fibrosis. The radiographic image of the sinus is used to observe the inflammation in the sinus. Chest X-rays are used to investigate the abnormality in the air passages and lungs.

• Sputum Culture - The sputum is collected from the patient affected by cystic fibrosis. The presence of bacteria called pseudomonas indicates cystic fibrosis.

• Nasal Potential Difference (NPD) - The electrodes are attached to both the external and internal surfaces of the nose. It is connected to the voltmeter. A solution is placed across the nasal tissue. It is used to measure the electricity generated due to the transfer of ions in the solution.

• Intestinal Current Measurement (ICM) - A special tool is used to collect the tissue from the rectum. The rectum is a part of the intestine. In the laboratory, the tissue is prepared to secrete chloride due to the electric response. If there is an increased presence of chloride, it shows the presence of cystic fibrosis.

How Is Cystic Fibrosis Treated?

The various treatments are as follows:

1. Medication -

• Steroids are prescribed to reduce the inflammation in the air passages.

• Bronchodilators are used to support breathing by opening the airways.

• Pancreatic enzyme supplements are prescribed to aid digestion.

• The commonly used immunomodulator to treat cystic fibrosis is Trikafta.

• Antibiotics are used to reduce infection. It is also useful to clear mucus.

2. Surgery - The nasal polyps or blockage in the nose and inflammation in the sinus are removed during surgery. It is a less invasive technique and is performed with the help of computed tomography. It guides the surgeon in locating the abnormal tissue in the sinus and nose.

3. Lung Transplant - Since cystic fibrosis is a genetic disorder, it cannot be cured completely with a lung transplant. But in the case of severe lung infection or damage, the lung is transplanted to save the patient. The life expectancy of cystic fibrosis patients with lung transplants is 15 to 20 years.

4. Bowel Surgery - A bowel surgery is done to remove a part of the affected bowel. This procedure is known as laparoscopy. The surgeon uses a camera to approach the affected area. It shows the magnification of the bowel on the monitor. The infected part in the intestine or block is removed with flexible tools.

Conclusion

A recent survey in the United States found that only one child out of 2500 white children, one child in 17000 black children, and one child in 31000 Asian children are affected by cystic fibrosis. It is not a contagious disease, so it cannot be transferred from one person to the other. Children with cystic fibrosis require lifelong management because when they become adults, cystic fibrosis also persists. Some individuals acquire cystic fibrosis only during adulthood. It was considered a fatal disease in the past. But the survival rate in children with cystic fibrosis can be increased by treating them earlier. The parents must consult with the children's specialist for the health benefits of their child. Follow the treatment plan given by the medical professional.