Nasal nitric oxide May not differentiate primary ciliary dyskinesia from certain primary immunodeficiencies.

The diagnosis of primary ciliary dyskinesia (PCD) is made through a combination of clinical features supported by a panel of diagnostic tests. Our cases highlight the similarities in the clinical presentation of patients with the specific immunodeficiency activated phosphatidylinositol 3-kinase delta syndrome 1 (or PIK3CD-related disorder) and PCD. We highlight the importance of repeating nasal nitric oxide testing when PCD has not been confirmed by genetic or ciliary electron micrograph analysis in the setting of an expanded suppurative lung disease differential that includes considerations for immunodeficiency as well as PCD.

Lung clearance index in children with sickle cell disease.

INTRODUCTION: The lung clearance index (LCI) derived from the multiple breath washout test (MBW), is both feasible and sensitive to early lung disease detection in young children with cystic fibrosis and asthma. The utility of LCI has not been studied in children with sickle cell disease (SCD). We hypothesized that children with SCD, with or without asthma or airway hyperreactivity (AHR), would have an elevated LCI compared to healthy controls. METHODS: Children with SCD from a single center between the ages of 6 and 18 years were studied at baseline health and completed MBW, spirometry, plethysmography and blood was drawn for serum markers. Results were compared to healthy controls of similar race, age, and gender. RESULTS: Healthy controls (n = 35) had a significantly higher daytime oxygen saturation level, weight and body mass index but not height compared to participants with SCD (n = 34). Total lung capacity (TLC) z-scores were significantly higher in the healthy controls compared to those with SCD (0.87 [1.13] vs. 0.02 [1.27]; p = .005) while differences in forced expiratory volume in 1 s z-scores approached significance (0.26 [0.97] vs. -0.22 [1.09]; p = .055). There was no significant difference in LCI between the healthy controls compared to participants with SCD (7.29 [0.72] vs. 7.40 [0.69]; p = .514). CONCLUSION: LCI did not differentiate SCD from healthy controls in children between the ages of 6 and 18 years at baseline health. TLC may be an important pulmonary function measure to follow longitudinally in the pediatric SCD population.

How I treat hypoxia in adults with hemoglobinopathies and hemolytic disorders.

Hemoglobinopathies are caused by genetic mutations that result in abnormal hemoglobin molecules, resulting in hemolytic anemia. Chronic complications involving the lung parenchyma, vasculature, and cardiac function in hemoglobinopathies result in impaired gas exchange, resulting in tissue hypoxia. Hypoxia is defined as the deficiency in the amount of oxygen reaching the tissues of the body and is prevalent in patients with hemoglobinopathies, and its cause is often multifactorial. Chronic hypoxia in hemoglobinopathies is often a sign of disease severity and is associated with increased morbidity and mortality. Therefore, a thorough understanding of the pathophysiology of hypoxia in these disease processes is important in order to appropriately treat the underlying cause and prevent complications. In this article, we discuss management of hypoxia based on three different cases: sickle cell disease, ß-thalassemia, and hereditary spherocytosis. These cases are used to review the current understanding of the disease pathophysiology, demonstrate the importance of a thorough clinical history and physical examination, explore diagnostic pathways, and review the current management.

Apical Lung Herniation Associated with Continuous Positive Airway Pressure in a 4-Year-Old Girl.

ABSTRACT: We report a case of apical lung herniation through the superior thoracic aperture of an obese child using nocturnal CPAP. Lung herniation has been described in association with congenital thoracic abnormalities and elevated intra-thoracic pressure, such as trauma. This patient was hospitalized with community acquired pneumonia and required nocturnal CPAP for treatment of concurrent obstructive sleep apnea. Her lung hernia was discovered incidentally on routine follow-up chest radiography and resolved with cessation of CPAP treatment. Lung herniation in association with the use of continuous positive airway pressure (CPAP) has not been previously described.