Severe alpha1-antitrypsin deficiency (PiZ homozygosity) with membranoproliferative glomerulonephritis and nephrotic syndrome, reversible after orthotopic liver transplantation

Original article


Elzouki AN, Lindgren S, Nilsson S, Veress B, Eriksson S.

Department of Medicine, Division of Gastroenterology and Hepatology, University Hospital, Malmo, Sweden.

J Hepatol. 1997 Jun;26(6):1403-7.


BACKGROUND/AIMS: Nephropathy associated with alpha1-antitrypsin deficiency is assumed to be an unusual entity. We describe the case of a 23-year-old woman with severe alpha1-antitrypsin (PiZ homozygosity) deficiency who developed hepatic cirrhosis in childhood, and glomerulonephritis and nephrotic syndrome in adult life. METHODS/RESULTS: A renal biopsy was consistent with membranoproliferative glomerulonephritis. An immunofluorescence study revealed the presence of alpha1-antitrypsin (PiZ) in the subendothelial region of the glomerular basement membrane. The renal disease was reversible after orthotopic liver transplantation. CONCLUSIONS: The presence of abnormal PiZ protein in the subendothelial region of the glomerular basement membrane may suggest a possible role for this protein in the pathogenesis of glomerulonephritis. The case should add impetus to the search for alpha1-antitrypsin deficiency in any patient presenting with combined liver and renal disease, in the absence of evidence of hepato-renal syndrome, and illustrates that liver transplantation alone may reverse the nephropathy associated with alpha1-antitrypsin deficiency.

Keywords: Alpha 1-antitrypsin; Glomerulonephritis; Liver transplantation; Nephrotic syndrome.