Glomerular and tubular function in glycogen storage disease

Pediatr Nephrol. 1995 Dec;9(6):705-10. doi: 10.1007/BF00868717.

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 (Cinulin) and para-aminohippuric acid (CPAH) clearances were also measured in 33 of these patients. Those with GSD-I had significantly greater albumin (F = 15.07, P < 0.001), retinol-binding protein (RBP) (F = 14.66, P < 0.001), N-acetyl-beta-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 higher Cinulin (F = 5.57, P = 0.009), but CPAH did not differ (F = 0.77, NS). Renal function was normal in GSD-III and GSD-IX patients. In GSD-I, Cinulin (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.

Publication types

  • Clinical Trial
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Albuminuria / urine
  • Blood Glucose / metabolism
  • Child
  • Child, Preschool
  • Creatinine / urine
  • Female
  • Glomerular Filtration Rate
  • Glycogen Storage Disease / blood
  • Glycogen Storage Disease / diagnostic imaging
  • Glycogen Storage Disease / physiopathology*
  • Glycogen Storage Disease Type I / blood
  • Glycogen Storage Disease Type I / physiopathology
  • Glycogen Storage Disease Type III / blood
  • Glycogen Storage Disease Type III / physiopathology
  • Hexosaminidases / urine
  • Humans
  • Kidney Function Tests
  • Kidney Glomerulus / diagnostic imaging
  • Kidney Glomerulus / physiopathology*
  • Kidney Tubules / diagnostic imaging
  • Kidney Tubules / physiopathology*
  • Male
  • Retinol-Binding Proteins / metabolism
  • Ultrasonography

Substances

  • Blood Glucose
  • Retinol-Binding Proteins
  • Creatinine
  • Hexosaminidases