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Updated: May 27, 2025
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The Extraction of Liver Glycogen Molecules for Glycogen Structure Determination
Published on: February 8, 2022
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Kidney involvement in glycogen storage disease type I: Current knowledge and key challenges
Anke Schumann1, Sven F Garbade2, Skadi Beblo3
1Children's Hospital, Department of Pediatrics, Adolescent Medicine and Neonatology, Faculty of Medicine, Freiburg University Hospital, Freiburg, Germany.
Molecular Genetics and Metabolism
|February 15, 2025
Summary
Glycogen storage disease (GSD) type I patients experience fewer kidney complications with modern therapies. However, monitoring for micro-albuminuria remains crucial to prevent long-term renal decline and potential kidney failure.
Area of Science:
- Metabolic disorders
- Nephrology
- Pediatric endocrinology
Background:
- Glycogen storage disease (GSD) types Ia and Ib present with fasting hypoglycemia and hepatomegaly.
- Chronic kidney disease (CKD) is a known complication of GSD I, characterized by reduced glomerular filtration rate and albuminuria/proteinuria.
- Therapeutic advancements have reduced the incidence of CKD in GSD I patients over recent decades.
Purpose of the Study:
- To retrospectively analyze renal function and associated factors in a cohort of GSD I patients.
- To assess the current prevalence and severity of renal complications in GSD I.
- To identify risk factors for renal involvement and evaluate the effectiveness of current management strategies.
Main Methods:
- Retrospective cohort study of 63 GSD I patients (51 GSD Ia, 12 GSD Ib).
- Cross-sectional analysis of renal function, metabolic parameters, comorbidities, and medications at the last follow-up.
- Age, metabolic control, and therapeutic interventions were considered.
Main Results:
- Renal complications were less frequent in patients adhering to standardized diets and renoprotective medications.
- CKD was primarily observed in patients over 25 years of age, with moderate declines in glomerular filtration rate.
- Insufficient metabolic control was linked to proteinuria; renal calcifications and kidney stones were infrequent. No patient required renal replacement therapy.
Conclusions:
- Adherence to standardized diets and renoprotective medications delays and reduces the severity of renal complications in GSD I.
- Despite improvements, renal involvement still occurs, highlighting the need for continued monitoring, especially for micro-albuminuria.
- Further research on larger cohorts and underlying pathomechanisms is essential to minimize kidney disease progression in GSD I.
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