Cystic Fibrosis

Cystic fibrosis is one of the most common life-threatening autosomal recessive genetic disorders affecting 1 in 2000 live births. It affects both male and female, and people from all racial and ethnic groups. It is, however, more common among Caucasians of northern European descent and less common among African Americans and Asian Americans.

It affects the cells that produce mucus, sweat and digestive juices which are normally secreted and are thin and slippery. But in the case of cystic fibrosis, a defective gene leading to decreased chloride secretion and increased sodium absorption across the epithelium leads to thick and sticky secretion. Instead of acting as a lubricant, these plug up tubes, ducts and passageways especially in lungs and pancreas. This causes chronic respiratory infections and bronchiectasis.

People suffering with this condition require daily care. However, after developments which have taken place in screening and treatments, most of the people are able to attend school and work and have a better quality of life now than before. Recent improvements have helped most people to live well into their 20s and 30s, and few of them into their 40s and 50s too.

The signs and symptoms vary depending on the severity of the disease. In the same person, symptoms may worsen or improve with time and in some children, symptoms may begin during infancy, others may not experience symptoms until adolescence or adulthood.

One of the first signs of cystic fibrosis is that parents may notice is that their baby’s skin tastes salty when kissed, or the baby doesn’t pass stool when first born.

Most of the other signs and symptoms happen later. They are related to how it affects the respiratory, digestive or reproductive systems of the body.

Respiratory signs and symptoms:

• Persistent cough with thick sputum and mucus
• Wheezing
• Breathlessness
• Decreased ability to exercise
• Recurrent lung infections
• Inflamed nasal passages

Digestive signs and symptoms:

• Foul smelling, greasy stools
• Poor weight gain and growth
• Intestinal blockage, in newborns (meconium ileus)
• Severe constipation
• Rectal prolapse due to frequent straining while passing stools

Reproductive sign and symptoms:

• Male: Infertile as born without vas deferens (Vas deferens is a tube that delivers sperm from testis to the penis)
• Female: Mucus blocking the cervix leading to difficulty in getting pregnant

Cystic fibrosis can be diagnosed by:

• Sweat test: sweat sodium and chloride >60mmol/L
• Genetics: screening for common mutations in CFTR genes and the type of mutations causing the disease, carriers of the disease.
• Other tests like chest x-ray, sinus x-ray, lung function test and sputum culture are done

Cystic fibrosis has no cure. However, treatments have greatly improved in the recent years.

The goals of the treatment include:

• Preventing and controlling lung infections
• Loosening and removing thick, sticky mucus from lungs
• Preventing or treating blockages in the intestines
• Providing enough nutrition
• Preventing dehydration

Management of the disorder:
It is best managed by a multidisciplinary team; for example: physician, general practitioner, physiotherapist, specialist nurse and dietician with attention to psychosocial as well as physical well being. Gene therapy (transfer of the CFTR gene) is not yet possible.

For chest: Regular physiotherapy along with antibiotics is given for acute infective exacerbations and prophylactically.
For gastrointestinal system: Pancreatic enzyme replacement, multi vitamin supplements and liver transplantation may be required in case of liver cirrhosis.
Others: Treatment of cystic fibrosis related diabetes, screening for and treatment of osteoporosis, treatment of sinusitis, and vasculitis, fertility and genetic counselling are other requirements.