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Renal function and kidney size in glycogen storage disease type I
W C Reitsma-Bierens1, G P Smit, J A Troelstra
1Division of Paediatric Nephrology, University Hospital, Groningen, The Netherlands.
Pediatric Nephrology (Berlin, Germany)
|May 1, 1992
Summary
Patients with glycogen storage disease type I (GSD I) exhibit hyperfiltration and hyperperfusion, indicating increased kidney activity. Kidney length is associated with the degree of this hyperfiltration in GSD I patients.
Area of Science:
- Nephrology
- Pediatric Endocrinology
- Metabolic Disorders
Background:
- Glycogen storage disease type I (GSD I) is increasingly recognized for late-onset renal complications.
- Understanding renal function in GSD I is crucial for managing long-term patient health.
Purpose of the Study:
- To investigate renal function, specifically glomerular filtration rate (GFR) and effective renal plasma flow (ERPF), in patients with GSD I.
- To assess the relationship between kidney size and renal hemodynamics in GSD I.
- To identify potential early markers of renal dysfunction.
Main Methods:
- Studied renal function (GFR, ERPF) in 23 GSD I patients (mean age 10.9 years).
- Assessed proximal tubular function and proteinuria.
- Measured kidney length relative to body height.
- Followed patients for a mean of 2.5 years.
Main Results:
- Nineteen of 23 patients showed hyperfiltration (GFR > 145 ml/min/1.73 m2).
- Mean GFR and ERPF were significantly elevated compared to adult controls.
- Increased kidney length correlated with higher GFR and ERPF.
- Proteinuria developed in 3 older patients; proximal tubular function remained largely normal.
Conclusions:
- GSD I is characterized by significant hyperfiltration and hyperperfusion.
- Kidney length is a relevant indicator of the degree of hyperfiltration in GSD I.
- Close monitoring of renal function is essential for GSD I patients to detect potential complications like proteinuria.