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Progressive breathlessness in an 18 year old male

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Q1: What are the clinical and pathological diagnoses?

Chronic obstructive pulmonary disease and pulmonary emphysema.

Q2: What aetiologies should be considered?

The α1-antitrypsin levels should be checked, as deficiency is associated with pulmonary emphysema.1This was normal. In addition, α1-antitrypsin dysfunction and α1-antichymotrypsin deficiency2 should be considered. Inorganic dust exposure3 and cadmium exposure4 have been associated with pulmonary emphysema and it has been described in intravenous drug abusers, particularly of heroin, methadone,5 and injected dissolved methylphenidate (Ritalin) tablets.6 Hereditary bullous emphysema can develop precociously in rare syndromes such as Salla's disease, cutis laxa, and idiopathic non-arteriosclerotic cerebral calcification syndrome.4 None of these unusual aetiologies were identified in our patient. …

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