Treatment of Glycogen Storage Disease Type I with Sustained Hyperfiltration and Proteinuria
Clinical Scenario
This protocol applies to patients with Glycogen Storage Disease Type I who present with renal findings indicating early nephropathy. One or more of the following criteria are present:
- Sustained estimated GFR greater than 140 ml/min/1.73 m² (hyperfiltration)
- Microalbuminuria greater than 30 µg albumin/mg creatinine
- Frank proteinuria greater than 0.2 mg protein/mg creatinine
Treatment Goals
Management in this setting aims to reduce proteinuria to levels that are normal or as near normal as possible, and to restore normal rates of glomerular filtration.
Approach
Management centres on angiotensin blockade, using a single agent that targets the renin-angiotensin system.
Agent selection criteria, titration approach, and monitoring parameters are detailed in the complete structured protocol.
References
DOI: 10.1038/gim.2014.128
- Consider initiating an ACE inhibitor or ARB with evidence of hyperfiltration (sustained estimated GFR >140 ml/min/1.73 m²).
- Initiate an ACE inhibitor or ARB for persistent microalbuminuria (>30 μg albumin/mg creatinine).
- Initiate an ACE inhibitor or ARB for frank proteinuria (>0.2 mg protein/mg creatinine).
- Use of either an angiotensin-converting enzyme (ACE) inhibitor or an angiotensin receptor blocker (ARB) medication by itself can be efficacious.
- There are also data showing that GSD I patients treated with angiotensin blockade show improvement in their degree of glomerular hyperfiltration and can demonstrate restored normal rates of GFR for some time.
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