SEVERE ALPHA(1)-ANTITRYPSIN DEFICIENCY (PIZ HOMOZYGOSITY) WITH MEMBRANOPROLIFERATIVE GLOMERULONEPHRITIS AND NEPHROTIC SYNDROME, REVERSIBLE AFTER ORTHOTOPIC LIVER-TRANSPLANTATION

Background/Aims: Nephropathy associated with alpha(1)-antitrypsin defi ciency is assumed to be an unusual entity, We describe the case of a 2 3-year-old woman with severe alpha(1)-antitrypsin (PiZ homozygosity) d eficiency who developed hepatic cirrhosis in childhood, and glomerulon ephritis and nephrotic syndrome in adult life. Methods/Results: A rena l biopsy was consistent with membranoproliferative glomerulonephritis, An immunofluorescence study revealed the presence of alpha(1)-antitry psin (PiZ) in the subendothelial region of the glomerular basement mem brane, The renal disease was reversible after orthotopic liver transpl antation.Conclusions: The presence of abnormal PiZ protein in the sube ndothelial region of the glomerular basement membrane may suggest a po ssible role for this protein in the pathogenesis of glomerulonephritis . The case should add impetus to the search for alpha(1)-antitrypsin d eficiency in any patient presenting with combined liver and renal dise ase, in the absence of evidence of hepato-renal syndrome, and illustra tes that liver transplantation alone may reverse the nephropathy assoc iated with alpha(1)-antitrypsin deficiency.