A 50-year-old male subject of Tunisian origin, followed by our outpatient chronic obstructive pulmonary disease (COPD) clinic, a former smoker (about 10 cigarettes a day for 30 years, 15 pack/years) treated with a LAMA-based inhalation therapy, and with previous monolateral spontaneous pneumothorax, treated with thoracic drainage. He worked as a driver. The patient presented digital hippocratism and, upon chest auscultation, the vesicular murmur was greatly reduced.\nArterial blood gas analysis showed values in the normal range considering the subject's age: pH 7.35, pCO2 42.9 mmHg, pO2 89.5 mmHg, HCO3 22.6 mmol/L, and sO2 97%. The 6MWT, performed without oxygen supplementation, did not register any clinically significant desaturation but a slight reduction in the distance walked (411 m measured/512 m predicted). Electrocardiogram (ECG) parameters were within the normal limits. The chest HRCT showed a severe diffuse centrolobular and paraseptal emphysema (Fig. ).\nPulmonary function tests revealed a mild airway obstruction, with a negative bronchial reversibility test (Fig. ; Table ).\nSince the AAT serum concentration was lower than normal (87 mg/dL), the patient underwent a genetic investigation with verification of the PI*M1MMalton genotype. Blood chemistry tests (total and fractionated bilirubin, CPK, gamma GT, cholinesterase, AST, ALT and renal function indices) were in the normal range. Liver and abdominal ultrasound exams were negative for liver or aneurysmal disease.
A 57-year-old woman of Moroccan origin suffering from an end-stage kidney disease was admitted for pre-kidney transplant investigations. Her medical story revealed diabetes with various peripheral vascular complications but neither pulmonary nor hepatic dysfunction. Serum electrophoresis revealed a double α1-globulin peak, suggesting the presence of a Pi A1AT protein variant in the heterozygous state. The A1AT IEF phenotype was noted Pi M1/Pi M2 but because of an abnormally low serum concentration (69 mg/dL), DNA sequencing was performed and revealed a Pi M1/Pi Mmalton genotype.