Glomerulonephritis as late manifestation of severe ?l-antitrypsin deficiency

Abstract

An association of alpha 1-antitrypsin deficiency with glomerulonephritis is rare and has so far been observed only in children or young adults. We report a 63-year-old man with severe alpha 1-antitrypsin deficiency associated with pulmonary emphysema, cirrhosis of the liver, and mesangioproliferative glomerulonephritis with nephrotic syndrome. Following initial presentation with nephropathy, further work-up revealed alpha 1-antitrypsin deficiency of proteinase inhibitor Z. In the absence of glomerular alpha 1-antitrypsin deposits the relationship between renal disease and alpha 1-antitrypsin deficiency remains unclear. alpha 1-Antitrypsin deficiency should be considered in adults with abnormal renal function and chronic liver disease.