mortality/aging
• most homozgyotes die within 24 hours of birth
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respiratory system
• bronchial epithelial dysplasia is apparent at birth, with the lumina of the bronchus occluded by vesicular material
• bronchial epithelial cells are disorganized at birth, with enlarged abnormal vesicles continuous with the epithelial apical surface
• vesicles in the bronchial epithelium contain glycogen
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• gasping at birth
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• mutant lungs at birth are poorly aerated
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homeostasis/metabolism
muscle
N |
• the diapraghm is intact and the intercostal muscle fibers appear histologically normal indicating a non-muscle cause of respiratory insufficiency
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