Treatment of Glycogen Storage Disease Type I with Hypercalciuria
In Glycogen storage disease type I (GSD I), hypercalciuria — defined as urinary calcium excretion exceeding 4 mg/kg/day or greater than 0.2 mg/mg creatinine on a random urinary calcium-to-creatinine ratio — is a recognised complication that warrants targeted intervention, particularly when urinary tract calcification is present or developing.
Clinical Scenario
GSD type I with hypercalciuria (urinary calcium excretion > 4 mg/kg/day or > 0.2 mg/mg creatinine), especially in individuals with known or developing urinary tract calcification.
Treatment Approach — Partial Overview
This protocol centres on thiazide diuretic therapy, used to enhance renal reabsorption of filtered calcium and reduce urinary calcium excretion, alongside ongoing good hydration. The specific agent selection, age-based considerations, and complete management algorithm are available in the full structured protocol.
Treatment Goal
Decrease urinary calcium excretion, monitored through interval urinary calcium-to-creatinine ratios.
References
DOI: 10.1038/gim.2014.128
- Normally, urinary calcium excretion is less than 4 mg/kg/day or less than 0.2 mg/mg when a random urinary calcium to creatinine ratio is obtained.
- Especially in GSD I individuals with known urinary tract calcification and ongoing hypercalciuria, thiazide diuretic therapy can be considered.
- With hypercalciuria, thiazide diuretics can also be provided as a way to enhance renal reabsorption of filtered calcium and decrease urinary calcium excretion.
- The efficacy of therapy can be gauged by interval urinary calcium-to-creatinine ratios.
View source ↗