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Nasal nitric oxide for early diagnosis of familial primary ciliary dyskinesia
  1. A Bodini1,
  2. S Rugolotto2,
  3. U Pradal3,
  4. G Zanotto4,
  5. D Peroni1
  1. 1
    Clinica Pediatrica, Universitè di Verona, Verona, Italy
  2. 2
    U.O. Patologia e Terapia Intensiva Neonatale, Ospedale Policlinico G.B. Rossi, Verona, Italy
  3. 3
    Centro Regionale Fibrosi Cistica, Ospedale Civile Maggiore, Verona, Italy
  4. 4
    U.O. di Pediatria; Ospedale Sacro Cuore di Negrar, Verona, Italy
  1. Diego Peroni, Dipartimento di Pediatria, Policlinico G.B. Rossi, 37134 Verona, Italy; diego.peroni{at}tiscalinet.it

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Primary ciliary dyskinesia (PCD) is an autosomal recessive disorder characterised by ultrastructural and/or motility defects of cilia that are commonly associated with recurrent or chronic respiratory symptoms.1 For the majority of these patients the onset of symptoms is early, and neonatal respiratory distress is common.1

In patients with PCD, nasal nitric oxide levels (nNO) are lower than those observed in healthy subjects.2 Normal nNO values are available for school-aged children,3 and recently some indications have been obtained for younger children.4

A 3190 g male infant (case 1) was delivered spontaneously, after an uncomplicated pregnancy, at 40 weeks of gestation. APGAR scores were 9 and 10 at 1 and 5 minutes …

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