Apparent total α₁ antitrypsin deficiency. Report of a case

A 29 yr old female, with chronic renal failure and chronic bilateral emphysema, was admitted with severe uremia and septicemia secondary to multiple abscesses in the right kidney. Her condition improved after right nephrectomy. Pulmonary function studies showed marked obstructive and restrictive lung disease consistent with the diagnosis of primary emphysema. Biochemical and histologic examination showed that the liver was normal. α₁ Antitrypsin could not be demonstrated in the patient's serum at normal pH by any of the known techniques, but protein molecules with α₁ antitrypsin antigenicity were found at pH 4.8; this suggests a pH dependent structural difference in α₁ antitrypsin protein. Starch gel electrophoresis gave a multibanding pattern not previously described. A new form of apparent total α₁ antitrypsin deficiency is postulated.