PMC7181334_01
(A-E) The chest radiographs showed varying degrees of decreased transmittance and lung consolidation.
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F1
Chest radiograph showed decreased transmittance in bilateral lungs (Figure 1A). Chest radiograph showed decreased transmittance with blurred cardiac and diaphragmatic margins (Figure 1B). Chest radiograph showed diffuse decreased transmittance with air bronchograms in the right and left lower lung lobes (Figure 1C). At 30 days, chest radiograph showed patchy increased density shadows in bilateral lungs (Figure 1D). Chest radiograph showed diffuse decreased transmittance, air bronchogram, and vesicular shadows in the right and left lower lung lobes (Figure 1E).
(A-D) HRCT and airway reconstruction showed decreased transmittance and ground glass opacity in bilateral lungs.
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At 10 days of life, a high-resolution computed tomography (HRCT) scan revealed diffuse ground glass opacity in bilateral lungs (Figure 2A). HRCT scan revealed decreased transmittance and ground glass opacity in most of lung lobes (Figure 2B). At 39 days of age, airway reconstruction and HRCT scan revealed decreased transmittance, ground glass opacity, and mildly reduced lesion extent (Figures 2C,D).
(A) Whole exome sequencing demonstrated a homozygous missense mutation C-to-T transition at position 746 in exon 8 of the ABCA3 gene in the neonate, which resulted in a Pro249Leu mutation. The mutations were detected in his parental DNA, respectively. (B) Protein alignment showed conservation of the P249 residue of ABCA3 across seven species.
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F3
Sanger sequencing verified that both parents were heterozygous carriers of this mutation (Figure 3A). The mutation occurred in an evolutionarily conserved site by cross-species comparison of ABCA3 protein sequences (Figure 3B).
The overall time curve of medication, respiratory support, arterial oxygen partial pressure, and fraction of inspire oxygen. FiO2, fraction of inspire oxygen; PaO2, arterial oxygen partial pressure; C, continuous positive pressure ventilation; HFO, high-frequency oscillatory ventilation; HHF, humidified high-flow oxygen; PCV, pressure controlled ventilation; Dex, dexamethasone; MP, methylprednisolone; AZM, azithromycin; PS, pulmonary surfactant.
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The main treatment course is demonstrated in Figure 4.