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Cystic Fibrosis In Children: Symptoms, Diagnosis, And Treatment

Cystic Fibrosis In Children: Symptoms, Diagnosis, And Treatment

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IN THIS ARTICLE

Cystic fibrosis is a progressive genetic disease that primarily affects the mucus-secreting organs. According to the Cystic Fibrosis Foundation Patient Registry, nearly 1,000 new cases are detected in the US every year (1).

In children with cystic fibrosis, the mucus becomes thick and clotty. The high viscosity results in the blockage of ducts, which could lead to other complications of the lungs, pancreas, and other organs (2).

Although a chronic disease, early diagnosis and care can help prevent complications and make a child’s life easier. Read more about the symptoms, diagnosis, and treatments for cystic fibrosis in children in this post.

Causes Of Cystic Fibrosis In Children

A mutation in the CFTR (cystic fibrosis transmembrane conductance regulator) gene results in cystic fibrosis. This protein helps move the salt and fluid intakes in and out of the cells.

It is a recessive gene, meaning a child is affected with cystic fibrosis if they inherit two defective copies of the CFTR gene—one each from both parents. If both parents carry a defective gene each, the child has a 25% probability of being diagnosed with cystic fibrosis (3).

The CFTR gene can undergo more than 1,700 mutations, and the severity of the disease depends on the type of mutation (1).

If a child receives only one defective gene from a parent, they are healthy. Nevertheless, they would be carriers of the disease and may pass on the defective gene to their offspring (2).

Symptoms Of Cystic Fibrosis In Children

Cystic fibrosis mainly affects the respiratory system, digestive system, and reproductive systems, and the symptoms may vary in each child depending on the organs affected and the severity of the condition.

  1. Respiratory symptoms: Progressive upper respiratory tract infections are common in children with cystic fibrosis. The respiratory symptoms of cystic fibrosis include (4)
  • Recurrent sinus infections
  • Acute bronchitis (chest cold)
  • Wheezing
  • Shortness of breath
  • Chronic coughs (dry or with thick mucus)
  • Stuffy nose
  1. Digestive symptoms: The thick mucus could block the ducts of the pancreas that carry digestive enzymes to the intestines. This blockage may lead to indigestion and improper absorption of nutrients. Digestive system-related symptoms of cystic fibrosis include (5)
  • Frequent bowel movements
  • Constipation
  • Anorexia (loss of appetite)
  • Greasy, bulky, and foul-smelling stools (due to indigestion of fat)
  • Nausea
  • Meconium ileus in infants (intestinal blockage)
  1. Reproductive system: The thick mucus may cause blockages in the reproductive system, thus affecting the growth and development of the sexual organs in children. The common signs of reproductive problems due to cystic fibrosis in children include (6)
  • Irregular or absence of menstruation in females
  • Sterility or infertility
  • Cervicitis (inflammation of the cervix)
  • Delayed sexual development
  1. Other symptoms: A few more symptoms of cystic fibrosis that may manifest in children include (7) (8)
  • Salty-tasting skin
  • Poor growth
  • Hyperhidrosis (increased sweating)
  • Nasal polyps (a benign growth in the nose)
  • Clubbed fingers

Risk Factors For Cystic Fibrosis In Children

Since cystic fibrosis is a genetic disease, a child becomes either affected or a carrier. The chance of a child getting the disease increases if both the parents are carriers.

Although it can affect children of any ethnicity, it is more commonly found in Caucasians of Northern European ancestry (2).

Complications Of Cystic Fibrosis In Children

The build-up of mucus might attract bacteria and lead to infections. The following are some commonly observed complications of cystic fibrosis in children (3) (7).

1. Respiratory system complications

 Bronchiectasis (chronic inflammation and widening of the airways)

  • Allergic bronchopulmonary aspergillosis (ABPA) (a hypersensitivity to the fungus Aspergillus)
  • Hemoptysis (coughing of blood)
  • Pulmonary exacerbation (worsening of respiratory infection symptoms)

2. Digestive system complications

  • Diabetes
  • Pancreatitis
  • Distal Intestinal Obstruction Syndrome (DIOS) (blockage of intestines by food residue, mucus, or feces)
  • Rectal prolapse (rectum protrudes through the anus)
  • Cirrhosis of the liver
  • Cancers of the digestive tract

3. Other complications

Diagnosis Of Cystic Fibrosis In Children

The diagnosis of cystic fibrosis in children is a multi-step process and may include any of the following diagnostic tests (7) (8).

  1. Sweat test: This painless test includes applying a sweat-releasing chemical or placing an electrode to stimulate the sweat glands. Salt (chloride levels) in the sweat samples can help the doctor with the diagnosis. A higher level of salt may indicate that the child has cystic fibrosis.
  1. Genetic test: Genetic analysis can also help diagnose the disease. The test includes studying the genes for any mutations in the CFTR gene. This test could also be used as a prenatal screening tool.
  1. Blood test: Immunoreactive trypsinogen (IRT) is a chemical secreted by the pancreas. Higher levels of IRT may be observed in the blood sample of a child with cystic fibrosis. Since the levels of IRT are also higher in a healthy premature child, a blood test alone may not provide an accurate diagnosis.

The doctor may also perform other tests to determine the functioning of the lungs, pancreas, and liver. They may either pair the tests or conduct repetitive tests to obtain an accurate diagnosis.

Treatment For Cystic Fibrosis In Children

There is no specific cure for cystic fibrosis. However, symptomatic treatments are recommended to reduce the risk of complications and increase a person’s survival rate. The type of treatment depends on the severity of the disease. Primarily, the treatment aims at clearing mucus, reducing infections, and improving the nutritional status of the child.

The treatment may also include regular checkups and medicines. The treatment options may include the following (3).

  1. Immunization: As children with cystic fibrosis are susceptible to infections, your child’s doctor may suggest vaccinations against pneumonia and influenza.
  1. Medications: Antibiotics may be prescribed to reduce lung infections. They can be administered in the form of pills, nasal sprays, or intravenously. Other medicines include Theophylline (to treat COPD), non-steroidal anti-inflammatory drugs (NSAIDs), bronchodilators, or other mucus thinning drugs to clear the airways for effortless breathing.
  1. Physical therapy: Chest physical therapy is a common method used to clear the pathways. It includes lightly tapping or clapping on the chest wall of the child. Alternatively, mechanical percussors and oscillating devices may also be used. Some doctors may also suggest inflatable vests with vibrators to help cough up mucus.
  1. Nutrition: As children with cystic fibrosis often have problems absorbing fat and nutrients, a dietitian may recommend a high-calorie diet along with vitamin and mineral supplementations. Similarly, since pancreatic capacity could be compromised, the doctor may also prescribe encapsulated enzymes to improve digestion and absorption of nutrients.
  1. Conditional treatment: Insulin shots, surgeries, and organ transplantations may be required as the disease progresses.

Prevention Of Cystic Fibrosis In Children

Cystic fibrosis cannot be prevented as it is caused by faulty genes. However, you can consult a pediatrician to discuss the best treatment options to minimize the effects of the symptoms and help the child manage the disease.

Early diagnosis is crucial in the care and treatment of children with cystic fibrosis. Also, opt for treatments to minimize the effects of the symptoms and prevent complications. Despite there being no cure for cystic fibrosis, the current medical advancements have improved survival rates.

References:

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Sindusha MS

Sindusha is a clinical nutritionist with over two years of experience in diverse fields of nutrition. She did her Masters in Food Science and Nutrition and has qualified UGC-NET. She interned as a quality control analyst and as a dietitian during her graduation. She was a part of several community nutrition projects and a phytochemical-based nutrition study during the same... more