A 62-year-old male subject, Italian Caucasian, in good health conditions. The diagnosis of AATD was made following genotype analysis performed on the son of the subject (the patient in Case 1, with a PI*M2MMalton genotype). The patient had an AAT serum concentration of 69 mg/dL, with a PI*M3MMalton genotype. He was a former smoker (about four cigarettes a day for 5 years, 1 pack/years), and worked as a sandblaster craftsman, reporting powder working exposure.\nThe patient did not take any drug, and did not complain of any respiratory symptoms. The 6MWT, performed without oxygen supplementation, did not register a clinically significant desaturation and the distance walked was normal (424 m measured/530 m predicted). SatO2 was 100% breathing room air and the heart rate was 66 bpm. Upon thoracic auscultation, the vesicular murmur was preserved, with no pathological sound. Lung function tests were in the normal range (Table ). Blood count, liver function tests and renal function were in the standard reference range, while the total IgE concentration was 429 IU/mL. Chest X-ray showed no abnormality. Liver and abdominal ultrasound exams were negative for liver or aneurysmal disease. Prick tests were positive for dust mites, whereas bronchial hyperactivity assessed through the methacholine (MCh) test was negative.
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.