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

J Hepatol. 1997 Jun;26(6):1403-7. doi: 10.1016/s0168-8278(97)80478-3.


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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Female
  • Glomerular Mesangium / pathology
  • Glomerulonephritis, Membranoproliferative / complications*
  • Glomerulonephritis, Membranoproliferative / genetics
  • Glomerulonephritis, Membranoproliferative / pathology
  • Homozygote
  • Humans
  • Kidney Function Tests
  • Liver Cirrhosis / complications*
  • Liver Cirrhosis / genetics
  • Liver Cirrhosis / pathology
  • Liver Cirrhosis / surgery*
  • Liver Transplantation*
  • Nephrotic Syndrome / complications*
  • Nephrotic Syndrome / genetics
  • Nephrotic Syndrome / pathology
  • Phenotype
  • alpha 1-Antitrypsin Deficiency*