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Glomerular and tubular function in glycogen storage disease

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Abstract

Urinary protein and calcium excretion were assessed in 77 patients with the hepatic glycogen storage diseases (GSD): 30 with GSD-I (median age 12.4 years, range 3.2–32.9 years), 25 with GSD-III (median age 10.5 years, range 4.2–31.3 years) and 22 with GSD-IX (median age 11.8 years, range 1.2–35.4 years). Inulin (C inulin) and para-aminohippuric acid (C PAH) clearances were also measured in 33 of these patients. Those with GSD-I had significantly greater albumin (F=15.07,P<0.001), retinolbinding protein (RBP) (F=14.66,P<0.001),N-acetyl-β-d glucosaminidase (NAG) (F=9.41,P<0.001) and calcium (F=7.41,P=0.001) excretion than those with GSD-III and GSD-IX. GSD-I patients (n=18) also had significantly higherC inulin (F=5.57,P=0.009), butC PAH did not differ (F=0.77, NS). Renal function was normal in GSD-III and GSD-IX patients. In GSD-I,C inulin (r=−0.51,P=0.03) and NAG excretion (r=−0.40,P=0.03) were inversely correlated with age, whereas albumin excretion was positively correlated with age (r=+0.41,P=0.03). RBP and calcium excretion were generally high throughout all age groups. Hyperfiltration in GSD-I is associated with renal tubular proteinuria that occurs before the onset of significant albuminuria. Deficiency of glucose-6-phosphatase within the proximal renal tubule may primarily cause tubular dysfunction, glomerular hyperfiltration being a secondary phenomenon.

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Author notes

  1. Philip J. Lee

    Present address: Department of Child Health, St George's Hospital Medical School, Cranmer Terrace, SW17 0RE, London, UK

Authors and Affiliations

  1. The International Growth Research Centre at the London Centre for Paediatric Endocrinology and Metabolism, Institute of Child Health, London, UK

    Philip J. Lee, Peter C. Hindmarsh & James V. Leonard

  2. Department of Paediatric Biochemistry, Guy's Hospital, London, UK

    R. Neil Dalton

  3. Department of Renal Biochemistry, Institute of Child Health, London, UK

    Vanita Shah

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  4. Peter C. Hindmarsh
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  5. James V. Leonard
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Lee, P.J., Dalton, R.N., Shah, V. et al. Glomerular and tubular function in glycogen storage disease. Pediatr Nephrol 9, 705–710 (1995). https://doi.org/10.1007/BF00868717

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  • DOI: https://doi.org/10.1007/BF00868717

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