Nephrotic syndrome complicating alpha-glucosidase replacement therapy for Pompe disease

Pediatrics. 2004 Oct;114(4):e532-5. doi: 10.1542/peds.2003-0988-L.

Abstract

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.

Publication types

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

MeSH terms

  • Antibodies / blood
  • Antibodies / immunology
  • Child, Preschool
  • Glycogen Storage Disease Type II / complications
  • Glycogen Storage Disease Type II / drug therapy*
  • Glycogen Storage Disease Type II / immunology
  • Humans
  • Immune Tolerance
  • Kidney / pathology
  • Male
  • Nephrotic Syndrome / chemically induced*
  • Nephrotic Syndrome / immunology
  • Nephrotic Syndrome / pathology
  • alpha-Glucosidases / adverse effects*
  • alpha-Glucosidases / immunology
  • alpha-Glucosidases / therapeutic use

Substances

  • Antibodies
  • alpha-Glucosidases