Recognizing genetic disease: A key aspect of pediatric pulmonary care

Abstract

Advancement in technology has improved recognition of genetic etiologies of disease, which has impacted diagnosis and management of rare disease patients in the pediatric pulmonary clinic. This review provides an overview of genetic conditions that are likely to present with pulmonary features and require extensive care by the pediatric pulmonologist. Increased familiarity with these conditions allows for improved care of these patients by reducing time to diagnosis, tailoring management, and prompting further investigation into these disorders. K E Y W O R D S bronchiectasis and primary ciliary dyskinesia, cystic fibrosis (CF), genetics/Genome-Wide Association Studies (GWAS), immunology and immunodeficiency, surfactant biology and pathophysiology • ABCA3, SFTPB, and SFTPC-related surfactant dysfunction • Brain-lung-thyroid syndrome • Pulmonary alveolar proteinosis | Clinical overviewAcute respiratory distress during the neonatal period, as characterized by hypoxemia and retractions, is expected in preterm infants due to immature lung development. However, if these signs and symptoms present in a full-term infant, or to a more severe degree than would be explained by prematurity alone, surfactant deficiency or dysfunction should be considered. Surfactant dysfunction disorders result from abnormal production or transport of the phospholipids and proteins that comprise the pulmonary surfactant complex. Surfactant is produced by alveolar type II epithelial cells

Underlying causes and outcomes of recurrent pneumonia in hospitalized children

“…Our findings were therefore partially in agreement with the data from Italy, whereas a disparity remained with regard to their distribution. Combined with the previous studies, we herein highlighted the importance of understanding genetic diseases that reflected a respiratory component, and selecting the appropriate tests so as to achieve a genetic diagnosis 16 …”

“…Combined with the previous studies, we herein highlighted the importance of understanding genetic diseases that reflected a respiratory component, and selecting the appropriate tests so as to achieve a genetic diagnosis. 16 It is critical that when pediatricians are confronted with RP, they distinguish between children who are otherwise healthy, and those who have an underlying disorder that requires further examination.…”

“…Among 551 patients, 90.6% were younger than 6 years of age; 66.4% were male; and 18.6% were born premature. The median age at first episode of pneumonia was 5 (2)(3)(4)(5)(6)(7)(8)(9)(10)(11)(12)(13)(14)(15)(16)(17)(18)(19) months, and the median age at diagnosis of RP was 14 (8-37) months (Table 1). Overall, 483 (87.7%) patients were identified as having at least one underlying disorder, and the proportions of prematurity and low birth weight were significantly higher in patients with underlying diseases.…”

Pediatric pulmonology 2020 year in review: Rare and diffuse lung disease

“…They highlighted the importance of a strong patient and family driven network, along with a research consortium to advance understanding of rare diseases, while calling for continued financial support for these groups. Yonker et al 37 and Hawley et al 38 reviewed genetics in chILD and the use of genetic testing in clinic. Finally, Vece et al 39 described additional tests used in chILD, including protemoics, metabolomics, and single‐cell studies, addressing both current and future potential uses.…”