Nephrotic syndrome complicating alpha-glucosidase replacement therapy for Pompe disease.

Journal Article (Journal Article)

We report a patient with Pompe disease who developed reversible nephrotic syndrome during prolonged, high-dose, experimental, enzyme replacement therapy with recombinant human acid alpha-glucosidase (rhGAA). Because of the development of antibodies to rhGAA and concomitant clinical decline, escalating doses of rhGAA were administered as part of an experimental immune tolerance regimen. Histologic evaluation of kidney tissue revealed glomerular deposition of immune complexes containing rhGAA itself, in a pattern of membranous nephropathy. To our knowledge, this is the first reported case of nephrotic syndrome occurring during enzyme replacement therapy. The nephrotic syndrome gradually resolved after the rhGAA dose was decreased, indicating that decreasing the antigenic load can ameliorate glomerular immune complex deposition associated with enzyme replacement in a highly sensitized patient.

Full Text

Duke Authors

Cited Authors

  • Hunley, TE; Corzo, D; Dudek, M; Kishnani, P; Amalfitano, A; Chen, Y-T; Richards, SM; Phillips, JA; Fogo, AB; Tiller, GE

Published Date

  • October 2004

Published In

Volume / Issue

  • 114 / 4

Start / End Page

  • e532 - e535

PubMed ID

  • 15466083

Electronic International Standard Serial Number (EISSN)

  • 1098-4275

Digital Object Identifier (DOI)

  • 10.1542/peds.2003-0988-L


  • eng

Conference Location

  • United States