Integral kidney function assessment in pediatric patients with glycogen storage diseases

Magali Reyes-Apodaca¹Alejandra Consuelo-Sánchez¹Rodrigo Vázquez-Frias¹Benjamin Antonio Rodríguez-Espino¹Mara Medeiros^1,2*

• ¹Federico Gómez Children's Hospital, Mexico City, Mexico
• ²National Autonomous University of Mexico, México City, México, Mexico

Glycogen storage diseases (GSD) are a group of hereditary metabolic disorders with variable clinical manifestations depending on the enzyme and organ affected. Renal dysfunction, including hyperfiltration, proteinuria, and renal tubular acidosis (RTA), is a known complication, particularly in GSD types of Ia and Ib. This cross-sectional study evaluated renal function in 17 pediatric patients with different GSD types using an integral kidney assessment (IKA). Comprehensive evaluations included biochemical and urinary analyses, glomerular filtration rate (GFR) calculation, and acidification tests.The median age of the first renal evaluation was 33 months, and nutritional management was often suboptimal at this stage. In IKA, renal alterations were identified in 47% of patients. patients. In 40% of GSD I patients, hyperfiltration was present, with lactic acidosis noted in 30% of cases. Two siblings with GSD XI exhibited proximal RTA and Fanconi syndrome, highlighting severe tubular involvement. Distal RTA was documented in one non-adherent GSD Ia patient, underscoring the importance of metabolic control.This study emphasizes the heterogeneity of renal manifestations among GSD subtypes. Hyperfiltration, particularly in GSD I, may be attributed to altered energy metabolism and compensatory mechanisms in the renal tubules. Proximal tubular damage in GSD XI reflects glycogen and monosaccharide accumulation in renal epithelial cells. Adherence to dietary and medical interventions is critical for mitigating renal complications and ensuring growth and development. Annual kidney evaluations are recommended for early detection of renal dysfunction, enabling timely therapeutic strategies such as alkali therapy and angiotensin-converting enzyme inhibitors.