Cystic fibrosis is an autosomal recessive genetic disorder caused by mutations in the CFTR (cystic fibrosis transmembrane conductance regulator) gene. This gene is responsible for regulating the flow of salt and water in and out of cells, particularly in the lungs and digestive system. Mutations in the CFTR gene lead to:
Persistent cough that may produce thick mucus.
Difficulty breathing or rapid, shallow breathing
Recurrent infections such as pneumonia or bronchitis.
Difficulty gaining weight and growing, despite a good appetite.
Cramping or discomfort due to gastrointestinal blockages.
Frequent, loose stools, often with a greasy appearance due to malabsorption of fats.
Difficulty passing stool or infrequent bowel movements.
Higher salt content in sweat, leading to salty-tasting skin.
Chronic sinus infections and nasal congestion.
Cystic fibrosis is a complex genetic disorder that requires comprehensive management to address its various symptoms and complications. By understanding the condition, its symptoms, and available treatments, parents can effectively support their child’s health and well-being. Dr. Sanjay Jain at Nitya Child Care and Vaccination Clinic in Indore offers expert care and guidance for managing cystic fibrosis, ensuring the best possible outcomes for affected children.
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