Nelson Textbook of Pediatrics 22nd Edition | Genetic disorder of motile cilia (autosomal recessive, >50 genes). Clinical triad (Kartagener): situs inversus, chronic sinusitis, bronchiectasis. Hallmarks: neonatal respiratory distress in term infants, year-round daily wet cough, chronic rhinosinusitis, otitis media with effusion, situs inversus (50%), male infertility (immotile sperm). Diagnosis: nasal nitric oxide (nNO) <77 nL/min (screening), ciliary biopsy with electron microscopy (dynein arm defects, microtubular disorganization), genetic testing (e.g., DNAH5, DNAI1, CCDC39). Treatment: airway clearance, antibiotics for exacerbations, hearing aids, ENT referral for sinusitis/otitis.
🌐 paeds.online — Pakistan's Pediatric Platform| System | Manifestation | Management |
|---|---|---|
| Respiratory | Chronic wet cough, bronchiectasis, recurrent pneumonia | Airway clearance (chest PT, vest), antibiotics for exacerbations, pneumococcal/influenza vaccines |
| Upper airway | Chronic rhinosinusitis, otitis media with effusion (OME) | Nasal saline irrigation, intranasal steroids, tympanostomy tubes (controversial), hearing aids |
| Situs anomalies | Situs inversus totalis (50%), heterotaxy | Echocardiogram to rule out congenital heart disease |
| Fertility | Male infertility (immotile sperm) | Reproductive counseling, assisted reproductive technology (ICSI) |