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. 2009 Nov;4(11):1741-6.
doi: 10.2215/CJN.00050109. Epub 2009 Oct 1.

Renal function in glycogen storage disease type I, natural course, and renopreservative effects of ACE inhibition

Daniëlle H J Martens  1 , Jan Peter Rake, Gerjan Navis, Vaclav Fidler, Catharina M L van Dael, G Peter A Smit
Affiliations

Renal function in glycogen storage disease type I, natural course, and renopreservative effects of ACE inhibition

Daniëlle H J Martens et al. Clin J Am Soc Nephrol. 2009 Nov.

Abstract

Background and objectives: Renal failure is a major complication in glycogen storage disease type I (GSD I). We studied the natural course of renal function in GSD I patients. We studied differences between patients in optimal and nonoptimal metabolic control and possible renoprotective effects of angiotensin converting enzyme inhibition.

Design, setting, participants, & measurements: Thirty-nine GSD I patients that visited our clinic were studied. GFR and effective renal plasma flow (ERPF) were measured by means of I(125) iothalamate and I(131) hippuran clearance and corrected for body surface area. Microalbuminuria was defined as >2.5 mg albumin/mmol creatinine and proteinuria as >0.2 g protein per liter. Optimal metabolic control was present when blood glucoses were >3.5 mmol/L, urine lactate/creatinine ratios <0.06 mmol/mmol, triglycerides <6.0 mmol/L, and uric acid concentrations <450 micromol/L.

Results: Quadratic regression analysis showed a biphasic pattern in the course of GFR and ERPF related to age. Microalbuminuria was observed significantly less frequently in the patients with optimal metabolic control compared with the patients with nonoptimal metabolic control. A significant decrease in GFR was observed after starting ACE inhibition.

Conclusions: This study describes a biphasic pattern of the natural course of GFR and ERPF in GSD I patients, followed by the development of microalbuminuria and proteinuria. Optimal metabolic control has a renoprotective effect on the development of microalbuminuria and proteinuria in GSD I patients. Treatment with ACE inhibitors significantly decreases the GFR, especially in GSD I patients with glomerular hyperfiltration.

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Figures

Figure 1.
Figure 1.
Natural course of GFR in GSD I patients.
Figure 2.
Figure 2.
Natural course of ERPF in GSD I patients.
Figure 3.
Figure 3.
Repeated GFR measurements per patient.
Figure 4.
Figure 4.
GFR in GSD I patients before and after ACE inhibition.
See this image and copyright information in PMC

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