Completely revised and updated, the second edition of this authoritative guide provides the latest information on the diagnosis, treatment, and ongoing management of pulmonary issues in children. Available for purchase at https://www.aap.org/Pediatric-Pulmonology-2nd-Edition-Paperback
47: Primary Ciliary Dyskinesia and Other Genetic Lung Diseases
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Published:November 2023
Madhuri Penugonda, MD, Nico W. Vehse, MD, Thomas W. Ferkol, MD, Bruce K. Rubin, MEngr, MD, MBA, FRCPC, FAAP, "Primary Ciliary Dyskinesia and Other Genetic Lung Diseases", Pediatric Pulmonology, American Academy of Pediatrics Section on Pediatric Pulmonology and Sleep Medicine, Michael J. Light, MD, FAAP, Kristin Van Hook, MD, MPH, FAAP
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Several respiratory disorders in children have a genetic predisposition; however, some of these disorders may not manifest until later in life. Recognizing the clinical presentations will aid in early diagnosis. Specific therapies can then be offered, which can decrease the severity of the lung disease or delay the progression. Chronicity of respiratory symptoms is a better indication of a genetic defect than severity. An inherited component should be suspected when chronic lung disease presents with other disease syndromes, such as pancreatic insufficiency, heat intolerance, male sterility, situs inversus, and emphysema at a young age. When a genetic disorder is...
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