Abstract: FR-PO0729
"Store It Away": Renal Dysfunction in Glycogen Storage Disease Type Ia
Session Information
- Glomerular Diseases: Membranous Nephropathy, FSGS, and Podocytopathies
October 23, 2026 | Location: Exhibit Hall A, Convention Center
Abstract Time: 10:00 AM - 12:00 PM
Category: Glomerular Diseases
- 1402 Glomerular Diseases: Clinical, Outcomes, and Therapeutics
Authors
- Palvai, Susan Christina, Saint Vincent Hospital, Worcester, Massachusetts, United States
- Martin, Suzanne Gwen, Saint Vincent Hospital, Worcester, Massachusetts, United States
Introduction
Glycogen Storage Disease Type Ia (GSDIa) is a rare autosomal recessive metabolic disorder caused by glucose-6-phosphatase deficiency. Renal manifestations include glomerular hyperfiltration, proteinuria, nephromegaly from glycogen deposition, proximal and distal renal tubular acidosis, nephrolithiasis, hyperuricemia, and progressive chronic kidney disease (CKD). Although improved dietary management has reduced renal complications, CKD remains an important long-term consequence, particularly in older patients with suboptimal early metabolic control. Recurrent hypoglycemia, indicating suboptimal metabolic control, is associated with increased risk of hepatic adenomas and microalbuminuria.
Case Description
50F with GSD Ia had stable stage IIIB CKD for 22 years. Creatinine-based eGFR using the 2021 CKD-EPI equation was 40 mL/min/1.73 m2, and cystatin C-based eGFR was 27 mL/min/1.73 m2. Initial nephrotic-range proteinuria (~3000 mg/gCr) improved to ~500 mg/gCr with ACE inhibitors. Given persistent proteinuria, an SGLT2 inhibitor was added. She had hyperuricemia without gout, treated with allopurinol, and hypocitraturia without nephrolithiasis, treated with potassium citrate. Physical exam was unremarkable, and urine sediment was bland. She developed multiple hepatic adenomas requiring surgical resection.
Discussion
This case illustrates several renal manifestations of GSD Ia. She had nephrotic-range proteinuria, suggesting possible FSGS, a commonly reported lesion in GSDIa. RAAS inhibitors can reduce proteinuria and stabilize renal function, and a similar role of SGLT2 inhibitors is being explored. The discrepancy between creatinine and cystatin C–based eGFR highlights uncertainty regarding optimal estimation of renal function, also reported elsewhere. Lactic acidosis indicates suboptimal metabolic control, as glucose-6-phosphate is shunted to glycolysis with increased lactate production. Lactated Ringer’s should therefore be avoided, including perioperatively. Hypocitraturia and hyperuricemia may contribute to nephrolithiasis if untreated.
Acknowledgment
Further studies are needed to determine optimal GFR assessment. Effective dietary therapy, longitudinal renal surveillance and timely renoprotective therapy with RAAS inhibitors, and possibly SGLT2 inhibitors, in patients with GSDIa may improve renal outcomes. CRISPR gene editing may ultimately offer definitive therapy.