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Recognizing genetic disease: A key aspect of pediatric pulmonary care
Author(s) -
Yonker Lael M.,
Hawley Megan H.,
Moschovis Peter P.,
Lu Mengdi,
Kinane T. Bernard
Publication year - 2020
Publication title -
pediatric pulmonology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.866
H-Index - 106
eISSN - 1099-0496
pISSN - 8755-6863
DOI - 10.1002/ppul.24706
Subject(s) - pulmonologist , medicine , intensive care medicine , etiology , disease , genetic testing , pulmonary disease , genetic diagnosis , disease management , pediatrics , pathology , biochemistry , chemistry , parkinson's disease , gene
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.