A 20-day old neonate presented with history of non-passage of meconium along with rectal prolapse, poor growth and delayed maturation. She has been hospitalized for the past 10 days due to respiratory tract infection. O/E Increased anteroposterior diameter of the chest Generalized hyperresonance Scattered coarse crackles Digital clubbing Protuberant abdomen Decreased muscle mass X ray abdomen was done. X ray abdomen was done. USG Abdomen ( Seen in antenatal records) All of the following drugs can be used in the treatment of the above-mentioned disease except: - Ivacaftor Dornase alpha Pulmozyme Mannitol
This is a case of cystic fibrosis in a neonate. Autosomal recessive Due to a homozygous defect of the CFTRgene located on chromosome 7q31.2 Most common defect being DF508 X-ray abdomen dilated air-filled small bowel loops and multiple air-fluid level on upright lateral view. Treatment: - Ivacaftor: most effective in those with G551D defect, only 2.3% patients Lumacaftor: designed for the common &paF508 mutation Lumacaftor and Ivacaftor: combination therapy: approved for &paF508 mutations Dornase alpha (Pulmozyme)- Cleaves extracellular DNA to reduce sputum viscosity. Mannitol- To improve mucous clearance in the lungs.
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