Respiratory Presentations
Overview
Presentations where the pulmonary system is the entry point: recurrent sinopulmonary infections, bronchiectasis, interstitial lung disease, neonatal respiratory distress, or unexplained pulmonary hypertension. Reasoning splits along three mechanistic lines: infectious-pattern disease (mucociliary clearance defects like CF and PCD, primary immunodeficiencies), parenchymal disease (surfactant disorders, alpha-1 antitrypsin, ILD genes), and vascular disease (heritable pulmonary arterial hypertension, HHT-related shunts). The pathogen pattern, the age of onset, and the company the lung phenotype keeps (situs, infertility, liver disease, telangiectasias) discriminate fastest.
Infection / mucociliary
Disease driven by failure to clear the airway rather than by failure of the parenchyma. The organism pattern and the extrapulmonary company sort these quickly: sinus plus lung plus pancreatic insufficiency points at cystic fibrosis, sinus plus lung plus situs inversus plus infertility points at primary ciliary dyskinesia, and recurrent infection with an unusual organism spectrum points at a primary immunodeficiency.
Interstitial lung disease
Parenchymal scarring rather than infection. In adults the reasoning runs through the marrow and the liver before it runs through the lung, because telomere biology disorders present as pulmonary fibrosis plus cytopenias plus cirrhosis scattered across a pedigree. In infants and children the same presentation is a surfactant problem instead. Age of onset separates the two gene lists almost completely.