Updates in Pediatric Sickle Cell Lung Disease.

Sickle cell lung disease presents a challenging care paradigm involving acute and chronic lower airway disease, sleep-disordered breathing, pulmonary vascular disease, and modification by environmental factors. Understanding the presentation, pathophysiology, and diagnostic approaches is essential for accurate identification and management. While significant progress has been made, there remains a need for research to develop effective treatments and interventions to decrease disease burden in these children.

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.

Respiratory Distress in the Newborn with Primary Ciliary Dyskinesia.

Primary ciliary dyskinesia (PCD) is inherited in a predominantly autosomal recessive manner with over 45 currently identified causative genes. It is a clinically heterogeneous disorder that results in a chronic wet cough and drainage from the paranasal sinuses, chronic otitis media with hearing impairment as well as male infertility. Approximately 50% of patients have situs inversus totalis.

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.

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.

Novel insights into the diagnostic and therapeutic challenges of the CFTR metabolic syndrome/CF screen positive indeterminate diagnosis.

The growth of cystic fibrosis newborn screening (CF NBS) has led to an increased number of infants with a positive NBS test but inconclusive CF diagnostic testing. In the USA this condition is called CFTR related metabolic syndrome (CRMS), while in Europe the term CF screen positive, inconclusive diagnosis (CFSPID) is used. Recent advances in CF genetics and epidemiologic studies of CRMS/CFSPID have provided new insights into the prevalence and outcomes associated with this condition.

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

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.

Comparison of WHO and CDC growth charts in predicting pulmonary outcomes in cystic fibrosis.

Objectives: The relation of weight-for-length (WFL) and weight-for-age (WFA) measurements with pulmonary function in patients with cystic fibrosis (CF) using the World Health Organization (WHO) growth standards has not been evaluated. The objective of the present study was to show that the relation of WFL and WFA measurements at 2 years with forced expiratory volume in 1 second (FEV1) at 6 to 8 years differs when using the WHO versus the Centers for Disease Control and Prevention (CDC) growth charts.

Methods: We assessed 1155 patients in the CF Foundation Patient Registry born between 2001 and 2004.

Sickle cell disease increases high mobility group box 1: a novel mechanism of inflammation.

High mobility group box 1 (HMGB1) is a chromatin-binding protein that maintains DNA structure. On cellular activation or injury, HMGB1 is released from activated immune cells or necrotic tissues and acts as a damage-associated molecular pattern to activate Toll-like receptor 4 (TLR4). Little is known concerning HMGB1 release and TLR4 activity and their role in the pathology of inflammation of sickle cell disease (SCD).

A case of tracheal varices in an adolescent patient with cyanotic heart disease.

Tracheal varices and bronchial varices are infrequently reported in adults as a complication of an underlying vascular obstruction, including portal hypertension, pulmonary arterial hypertension, or pulmonary venous hypertension. Tracheal varices and bronchial varices have been reported in adults with failing Fontan physiology, but this occurrence is rare in children. We report the unusual presentation of tracheal-bronchial varices due to veno-venous collaterals in an adolescent patient with Glenn physiology for double-inlet left ventricle and portal hypertension secondary to cardiac cirrhosis.