What are the early signs of cystic fibrosis, and how is it diagnosed?

[Anonymous]

What are the early signs of cystic fibrosis, and how is it diagnosed?

[Genetic Counselor]

Cystic fibrosis looks different from person to person, but symptoms often appear in infancy or early childhood. In India, children are frequently diagnosed later than in countries with newborn screening, often after several years of repeated infections and poor growth, so recognizing the early signs matters.

• Lungs and sinuses A persistent cough, wheezing, and repeated chest infections or pneumonia that keep coming back. Over time, lung infections with bacteria such as Pseudomonas become common. Blocked sinuses and nasal polyps may also develop.
• Digestion and growth In about 85 out of 100 people with cystic fibrosis, the pancreas cannot release the enzymes needed to digest food. This leads to large, greasy, foul-smelling stools, a swollen belly, and poor weight gain despite a good appetite. Some newborns are born with a blocked bowel, called meconium ileus, which may be the very first sign.
• Salty skin and salt loss Parents sometimes notice their baby tastes salty when kissed. In hot climates such as much of India, children can lose so much salt in sweat that they become dehydrated and unwell, sometimes with dangerously low salt levels in the blood.
• Liver and other organs A smaller number of children develop liver problems, and diabetes related to cystic fibrosis becomes more common in the teenage and adult years.

Diagnosis rests on two things: a clinical reason to suspect cystic fibrosis (symptoms, a positive newborn screen, or a family history) and a test proving the CFTR gate is not working.

• Sweat chloride test This remains the main diagnostic test. A small, painless patch on the arm collects sweat, which is then measured for salt. A level of 60 millimoles per liter or higher confirms cystic fibrosis. A level between 30 and 59 is borderline and needs further testing. Few centers in India offer this test, so families may need a referral to a specialized hospital.
• Genetic testing of the CFTR gene Finding a disease-causing change in both copies of the gene confirms the diagnosis. Because the CFTR changes seen in Indian families are highly varied and often differ from those common in Europe, full sequencing of the gene is usually more reliable than a small panel of common variants.
• Newborn screening Many countries test all babies using a blood spot that measures a pancreatic protein called immunoreactive trypsinogen. Routine newborn screening for cystic fibrosis is not yet part of standard programs across India, which is one reason diagnosis is often delayed here.

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