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Advances in technology, methodology, and deep phenotyping are increasingly driving the understanding of the pathologic basis of disease. Improvements in patient identification and treatment are impacting survival. This is true… Click to show full abstract
Advances in technology, methodology, and deep phenotyping are increasingly driving the understanding of the pathologic basis of disease. Improvements in patient identification and treatment are impacting survival. This is true in endocrinology and inborn errors of metabolism, where disease-modifying therapies are developing. Inherent to this evolution is the increasing awareness of the respiratory manifestations of these rare diseases. This review updates clinicians, stratifying diseases spirometerically; pulmonary hypertension and diseases with a predisposition to recurrent pulmonary infection are discussed. This division is artificial; many diseases have multiple pathologic effects on respiration. This review does not cover the impact of obesity.
Journal Title: Pediatric clinics of North America
Year Published: 2021
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