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General Medicine General 46b96228

A 35-year-old man is evaluated in the clinic for symptoms of shortness of breath. He reports no other lung or heart disease. He smokes half pack a day for the past 10 years. On examination, his JVP is at 2 cm, heart sounds normal, and lungs are clear. A CXR shows hyperinflation and increased lucency of the lung fields. A chest CT reveals bullae and emphysematous changes in the lower lobes, while pulmonary function tests show an FEV1/FVC ratio of < 70%. Evaluation of his family reveals other affected individuals. Which of the following is the most likely diagnosis?

A
alpha 1-antitrypsin deficiency
B
beta-glycosidase deficiency
C
glucose-6-phosphatase deficiency
D
glucocerebrosides deficiency

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