ABSTRACT
We present an infant who was born premature at 23 weeks gestation with bronchopulmonary dysplasia and a SFTPC gene mutation, p.R167Q, who had a complicated neonatal course requiring 4 months of mechanical ventilation. Over time, his clinical course has improved, and he only requires oxygen by nasal cannula and low dose hydroxychloroquine, suggesting that p.R167Q mutation contributed to his clinical course and may manifest with a variable disease pattern making long-term prognostication difficult in the immediate newborn period.
Subject(s)
Bronchopulmonary Dysplasia/physiopathology , Pulmonary Alveolar Proteinosis/genetics , Pulmonary Surfactant-Associated Protein C/genetics , Anti-Inflammatory Agents/therapeutic use , Bronchopulmonary Dysplasia/complications , Bronchopulmonary Dysplasia/therapy , Disease Progression , Humans , Infant, Extremely Premature , Infant, Newborn , Male , Mutation , Pulmonary Alveolar Proteinosis/complications , Pulmonary Alveolar Proteinosis/physiopathology , Pulmonary Surfactant-Associated Protein C/deficiency , Respiration, ArtificialABSTRACT
PURPOSE: Spirometry performed by adolescents with refractory wheeze or stridor and respiratory distress, with normal room air oxygen saturation, may differentiate subjects not having an acute asthma exacerbation (AE-) from those who are (AE+). A subpopulation may also be identified that has flow volume loop (FVL) patterns consistent with vocal cord dysfunction (VCD). METHODS: Spirometry was performed by adolescents who presented to a pediatric emergency department (ED) with respiratory distress attributed to an acute AE who, after therapy, were still symptomatic and had room air oxygen saturation > or = 97%. Spirometry findings were classified as: (a) consistent with an acute AE, (b) variable extrathoracic airway obstruction pattern consistent with VCD, (c) a combination of the two, or (d) normal airflow. RESULTS: Of 2,073 adolescent visits for asthma seen in the ED in 2005, 20 encounters among 17 adolescents were examined during the period of 0700-2200 on weekdays when an investigator was available, of which, 15 encounters were classified as AE-. In the AE- group, nine had FVL evidence of variable extrathoracic airway obstruction consistent with VCD, and six had normal spirometry. Three of the five encounters that were AE+ had FVL evidence consistent with VCD. CONCLUSIONS: Spirometry, performed on therapy-resistant wheezing or stridorous adolescent patients in respiratory distress with oxygen saturation > or =97%, may help differentiate patients who are not having an acute AE from those who are. In those subjects not having an acute AE, respiratory distress may prove to be due to VCD.
