Gaucher disease in a patient with membranoproliferative glomerulonephritis: case report

BMC Nephrol. 2023 Sep 29;24(1):287. doi: 10.1186/s12882-023-03163-9.

Abstract

Background: Gaucher disease (GD) is a rare autosomal recessive inherited, lysosomal storage disoder that involves liver, spleen, lung, bone, bone marrow even central nervous. However, GD associated membranoproliferative glomerulonephritis (MPGN) is seldom reported.

Case presentation: Here we described a case of 35-year-old man suffering from GD with hepatosplenomegaly, ascites, bone destruction, myelofibrosis and MPGN. Renal biopsy revealed MPGN and Gaucher cells presented in the glomeruli capillaries. β-glucosidase activity was 1.95nmol/1 h/mg and gene detection demonstrated that one homozygous pathogenic variant Leu483Pro in GBA. He received the treatment of oral prednisone and mycophenolate mofetil and his ascites and renal outcomes had been significantly improved.

Conclusions: Therapy of prednisone and mycophenolate mofetil may be an optional choice for patients with Gaucher disease who have no opportunity to use enzyme treatment.

Keywords: Case report; Gaucher disease; Membranoproliferative glomerulonephritis; Mycophenolate mofetil; Prednisone.

Publication types

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

MeSH terms

  • Adult
  • Ascites
  • Gaucher Disease* / complications
  • Gaucher Disease* / diagnosis
  • Gaucher Disease* / drug therapy
  • Glomerulonephritis, Membranoproliferative* / complications
  • Glomerulonephritis, Membranoproliferative* / diagnosis
  • Glomerulonephritis, Membranoproliferative* / drug therapy
  • Humans
  • Male
  • Mycophenolic Acid
  • Prednisone

Substances

  • Prednisone
  • Mycophenolic Acid