Cystic Fibrosis in Children Paediatrics Clinical Features Diagnosis Management and Treatment

By: | Category: Paediatrics | Views: 3

Cystic fibrosis in paediatrics is a serious autosomal recessive genetic disorder caused by mutations in the CFTR gene, leading to abnormal chloride transport and production of thick, sticky mucus affecting multiple organs. This condition primarily involves the lungs, pancreas, liver, and gastrointestinal tract and is one of the most important inherited diseases encountered in paediatric medicine. Children with cystic fibrosis often present with recurrent respiratory infections, chronic cough, bronchiectasis, failure to thrive, pancreatic insufficiency, malabsorption, steatorrhea, and complications such as meconium ileus in newborns.

Early diagnosis is crucial and is commonly achieved through newborn screening, sweat chloride testing, and genetic testing for CFTR mutations. Management of cystic fibrosis in children focuses on improving lung function, preventing infections, maintaining adequate nutrition, and addressing complications. Treatment includes airway clearance therapy, inhaled medications such as dornase alfa and hypertonic saline, long-term antibiotics like azithromycin or tobramycin for chronic infections, pancreatic enzyme replacement therapy, fat-soluble vitamin supplementation, and advanced CFTR modulator therapies such as ivacaftor and combination therapies.

With early diagnosis and modern treatments, including targeted CFTR modulators, the prognosis of children with cystic fibrosis has significantly improved, allowing many patients to survive into adulthood. Understanding the pathophysiology, clinical manifestations, diagnostic criteria, and multidisciplinary management strategies is essential for healthcare professionals involved in paediatric care.