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Decreased urinary citrate excretion in type 1a glycogen storage disease.
- Source :
-
The Journal of pediatrics [J Pediatr] 2001 Mar; Vol. 138 (3), pp. 378-82. - Publication Year :
- 2001
-
Abstract
- Objectives: To quantify urinary citrate and calcium excretion and systemic acid-base status in patients with type 1a glycogen storage disease (GSD1a) and to investigate their relationship to renal complications.<br />Study Design: Fifteen patients (7 male and 8 female; age range, 3--28 years) were studied during annual evaluations of metabolic control. All were treated with intermittent doses of uncooked cornstarch. Hourly blood sampling and a 24-hour urine collection were obtained while subjects followed their usual home dietary regimen.<br />Results: All but the youngest subject had low levels of citrate excretion (mean 2.4 +/- 1.8 mg/kg/d; 129 +/- 21 mg citrate/g creatinine). Normally, urinary citrate excretion increases with age; however, in patients with GSD1a, a strong inverse exponential relationship was found between age and citrate excretion (r = -0.84, P <.0001). Urinary citrate excretion was unrelated to markers of metabolic control. Hypercalciuria occurred in 9 of 15 patients (mean urinary calcium/creatinine ratio, 0.27 +/- 0.15) and was also inversely correlated with age (r = -0.62, P =.001).<br />Conclusions: Hypocitraturia that worsens with age occurs in metabolically compensated patients with GSD1a. The combination of low citrate excretion and hypercalciuria appears to be important in the pathogenesis of nephrocalcinosis and nephrolithiasis. Citrate supplementation may be beneficial in preventing or ameliorating nephrocalcinosis and the development of urinary calculi in GSD1a.
- Subjects :
- Adolescent
Adult
Child
Child, Preschool
Female
Glomerular Filtration Rate
Glycogen Storage Disease Type I complications
Humans
Kidney Calculi urine
Least-Squares Analysis
Male
Nephrocalcinosis urine
Calcium urine
Citric Acid urine
Glycogen Storage Disease Type I urine
Kidney Calculi etiology
Nephrocalcinosis etiology
Subjects
Details
- Language :
- English
- ISSN :
- 0022-3476
- Volume :
- 138
- Issue :
- 3
- Database :
- MEDLINE
- Journal :
- The Journal of pediatrics
- Publication Type :
- Academic Journal
- Accession number :
- 11241046
- Full Text :
- https://doi.org/10.1067/mpd.2001.111322