Abstract:

Objective: To investigate the clinicopathological characteristics, genetic features, and diagnosis and treatment strategies of renal impairment associated with adult glycogen storage disease (GSD). Methods: The clinical data, renal pathological features, and genetic mutations of 5 adult patients with confirmed GSD-related renal impairment were retrospectively analyzed. Results: All 5 patients (4 patients with GSD type Ia and 1 with GSD type Ib) presented with characteristic metabolic disorders and proteinuria. Key renal pathological manifestations included vacuolar degeneration in the nuclei of renal tubular epithelial cells (strongly positive for periodic acid-schiff), and deposition of glycogen particles (14-32 nm in diameter) in the nuclei of renal tubular epithelial cells on electron microscopy. Genetic testing confirmed an autosomal recessive inheritance pattern. Three patients with GSD type Ia carried homozygous mutations in the G6PC1 gene (c.648G>T or c.964T>G), with both parents carrying the same heterozygous mutations. One patient with GSD type Ib exhibited compound heterozygous mutations in the SLC37A4 gene: c.870+5G>A (paternal) and c.775_776delinsA (maternal), among which c.775_776delinsA was a novel mutation. During a median follow-up of 9 months, renal function remained stable in 4 patients, while 1 patient died of upper gastrointestinal bleeding 15 months after diagnosis. Conclusion: Adult patients with GSD frequently exhibit both metabolic disorders and renal impairment. The deposition of glycogen particles in the nuclei of renal tubular epithelial cells on electron microscopy serves as a key diagnostic marker.