Apparent total α1 antitrypsin deficiency. Report of a case

J. L. Bernheim, P. Arnaud, C. Cellier

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Pages (from-to)678-685
Number of pages8
JournalIsrael Journal of Medical Sciences
Issue number7
StatePublished - 1976
Externally publishedYes


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