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Cystic Fibrosis in Children: All You Need To Know

Dr Senthil Kumar Dr Senthil Kumar 7 Mins Read

Dr Senthil Kumar Dr Senthil Kumar


The genetic disorder, Cystic Fibrosis, affects the quality of life in children and damages the lungs and digestive system. Read on to know all about its symptoms, causes, diagnosis and treatment.

Cystic Fibrosis in Children: All You Need To Know

Cystic Fibrosis (CF) in children is a genetic disorder that causes severe damage to the lungs and digestive system. In this condition, there are abnormalities in the movement of the body's salt, water and mucus-making cells due to faulty genes. Children inherit this disease through their genes. The affected children produce thick and sticky mucus that clogs the lungs and prevents the pancreas from functioning normally. The reproductive organs of the body may also get affected. Find out about the symptoms, causes, and treatment of cystic fibrosis in children.

According to the Cystic Fibrosis Foundation, there are around 70,000 children with cystic fibrosis around the world. However, there is not enough data available in India about its prevalence. The All India Institute of Medical Sciences, New Delhi (AIIMS) published a research paper named 'Cystic Fibrosis in India: Past, Present and Future' in December 2015.

In the paper, the authors, Anirban Mandal, Sushil K Kabra and Rakesh Lodha have pointed out that once thought to be non-existent, there have been regular reports of CF cases from all over India over the years. The first case of CF was reported in the year 1968. CF among Indian children occurs throughout geographic and ethnic groups. However, Indian children with the disorder are diagnosed late and most suffer from malnutrition too. Let's find out the causes, symptoms, diagnosis and treatment for this distressing disease.

Causes of cystic fibrosis in children: who are at risk?

  • Studies state that Caucasians children are at most risk of being affected by this genetic disorder. However, it is prevalent in all other ethnic groups.
  • Children inherit the faulty genes that cause the disease, from their parents. However, carriers of these genes, i.e., parents are not affected by the disease.

Symptoms of the disease

The effects of the condition vary from children to children; thus, symptoms of the disease can defer too.

  • As the disease damages the respiratory system, most children with the disorder suffer from a chronic cough, infections
  • in the lungs and breathlessness.
  • As the condition affects the digestive system too, affected children find it difficult to gain weight and may suffer from malnutrition.
  • Constipation and overall poor bowel movement could be other symptoms of the disease.
  • Children with CF may also develop health issues like nasal polyps, hemoptysis, diabetes, liver problems, gallstones and pancreatitis.
  • Chronic sinus infection is yet another symptom of the disease.

Diagnosis of cystic fibrosis in children

  • CF can be easily detected during the newborn screening after birth, thanks to advancement in medical science.
  • Life expectancy rates have also gone up.
  • Sweat chloride is an effective test to confirm CF. It basically measures the chloride amount in sweat. The higher the amount of chloride found, the more likely that the child is suffering from CF.
  • Genetic testing is also done to confirm CF. In this case, blood/cells from the cheek are taken and tested for the mutation.
  • Other diagnostic tests that may have to be done on the child include blood tests, pulmonary function tests, stool evaluation and sputum culture.

Treating cystic fibrosis in children

  • The disorder has no cure; however, it could be managed well if symptoms of the disease are under control.
  • The symptoms of the condition can be effectively treated through medication and certain lifestyle alterations.
  • In some cases, the parents are advised to provide the child with pancreatic enzyme supplements with all meals as well as snacks. These enzymes help in the digestion of fat and protein in the body.
  • As digestion is an issue in children with the disorder, soluble multivitamins like vitamin A, D, E, and K are also prescribed.
  • A balanced diet which is rich in salt, fat and protein is essential for children with CF.
  • Medicines to help thin the mucus are also prescribed. This helps in fighting all types of lung infections.
  • A technique called 'airway clearance' is used to keep the lungs from any blockage.
  • Gene therapy and other new treatments are being tried out to treat this disease.

Looking after a child with CF can be challenging. However, the development of new treatments is making it easier for parents to cope.

About the expert:

Written by Dr Senthil Kumar on 17 October 2018.

Dr Senthil Kumar is a paediatric and neonatal consultant and a cardiac intensivist in a leading hospital in Bangalore.

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