Nephrotic syndrome complicating alpha-glucosidase replacement therapy for Pompe disease.
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.
Division of Pediatric Nephrology, Vanderbilt University Medical Center, C-4204 Medical Center North, Nashville, TN 37232-2584, USA. tray.hunley@mcmail.vanderbilt.edu
Tracy E
TE
Hunley
Deyanira
D
Corzo
Martha
M
Dudek
Priya
P
Kishnani
Andrea
A
Amalfitano
Yuan-Tsong
YT
Chen
Susan M
SM
Richards
John A
JA
Phillips
Agnes B
AB
Fogo
George E
GE
Tiller
D000906:Antibodies / Q000097:blood / Q000276:immunology; D002675:Child, Preschool; D006009:Glycogen Storage Disease Type II / Q000150:complications / Q000188:drug therapy* / Q000276:immunology; D006801:Humans; D007108:Immune Tolerance; D007668:Kidney / Q000473:pathology; D008297:Male; D009404:Nephrotic Syndrome / Q000139:chemically induced* / Q000276:immunology / Q000473:pathology; D000520:alpha-Glucosidases / Q000009:adverse effects* / Q000276:immunology / Q000627:therapeutic use
D000906:Antibodies; D000520:alpha-Glucosidases