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Retrospective data suggest that approximately half of patients with primary ciliary dyskinesia (PCD) have symptoms of neonatal respiratory distress. Respiratory distress syndrome in a full term infant should therefore raise PCD as a potential underlying disease.1,2 The non-invasive measurement of nasal nitric oxide (NO) is of diagnostic value in adults and children with PCD,1,3 but similar information is not available for neonates with PCD.
A 3550 g male infant was delivered after uncomplicated pregnancy by caesarean section at 41 weeks of gestation. During the first hours of life, respiratory distress developed, and supplemental oxygen was required to maintain arterial oxygen saturation above 88%. Neonatal infection was suspected, and antibiotic treatment initiated. Chest radiographs and abdominal ultrasound scans showed complete situs inversus, compatible with the diagnosis of Kartagener’s syndrome. C reactive protein increased to a maximum of 87 mg/l on day 2, blood cultures remained sterile, and throat swabs showed Klebsiella pneumoniae. Antibiotic therapy was continued for 10 days.
Measurements of nasal NO revealed concentrations below 5 ppb on day 4, while the patient was treated for neonatal infection. Low nasal NO was confirmed after antibiotic therapy was discontinued and the infant was without clinical symptoms on day 34 of life (9.4 ppb). Mean nasal NO in six healthy term newborns with a median age of 14 days (range 2–24) was 171.2 ppb (range 100–232).
The diagnosis of PCD was subsequently confirmed by nasal brush biopsy at 6 weeks of age.
PCD is a rare cause of neonatal respiratory distress but is under-diagnosed, as many infants recover spontaneously. Delayed diagnosis is accompanied by poorer outcome, as sufficient treatment maintains lung function or at least delays disease progression in the lower airways.1,4 Therefore there is a need for early diagnosis and treatment. This case illustrates that nasal NO measurements may be used to diagnose PCD in the newborn.
NO is thought to play an important role in postnatal adaptation of the pulmonary circulation. Decreased nasal NO in the neonate may have a negative impact on physiology of the lower airways, as newborns usually inhale high levels of NO which form in the upper airways. It can therefore be speculated that decreased nasal NO in newborns may contribute to the clinical signs of neonatal respiratory distress.
Competing interests: none declared
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