Case 2
A 4-year-old girl born at term and with no history of neonatal respiratory distress was evaluated for a year-round wet cough and rhinitis that started at 12 months of age. She had recurrent otitis media with myringotomy tubes placed around 3 years of age. She had normal oxygen saturation, scattered crackles and rhonchi on initial pulmonary exam and no digital clubbing. Previous work-up had included a normal sweat chloride test and two heterozygous VUS in DNAH5 on PCD genetic testing. Further genetic testing to confirm if the variants were in trans had not been completed. A sinus and chest CT had shown evidence of pansinusitis and mild bronchiectasis. Additional evaluation included low B and T cells and low immunoglobulin levels managed with intravenous immunoglobulin replacement therapy.
A repeat chest CT demonstrated progressive bronchial wall thickening and bronchiectasis, collapse of the right middle and upper lobes as well as extensive adenopathy. Bronchoscopy demonstrated lower airway inflammation, airway edema and increased mucus. Bronchoalveolar lavage showed neutrophil predominance on cell counts, however no organism was identified on culture. Initial nNO testing value of 38.9 nL/min was in a range consistent with PCD. Considering the concurrent PCD and immunodeficiency concerns, repeat genetic testing confirmed prior VUS’s in DNAH5 as well as a single pathogenic variant in PIK3CD. Her management included daily airway clearance, antibiotic prophylaxis and immunoglobulin replacement therapy.