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Type I glycogen storage disease: kidney involvement, pathogenesis and its treatment.

Publication ,  Journal Article
Chen, YT
Published in: Pediatr Nephrol
January 1991

Type I glycogen storage disease (GSD-I) is due to the deficiency of glucose-6-phosphatase activity in the liver, kidney and intestine. Although kidney enlargement occurs in GSD-I, renal disease has not been considered a major problem until recently. In older patients (more than 20 years of age) whose GSD-I disease has been ineffectively treated, virtually all have disturbed renal function, manifested by persistent proteinuria; many also have hypertension, renal stones, altered creatinine clearance or a progressive renal insufficiency. Glomerular hyperfiltration is seen in the early stage of the renal dysfunction and can occur before proteinuria. In younger GSD-I patients, the hyperfiltration is usually the only renal abnormality found; and, in some patients, microalbuminuria develops before clinical proteinuria. The predominant underlying renal pathology is focal segmental glomerulosclerosis. Renal stones and/or nephrocalcinosis are also common findings. Amyloidosis and Fanconi-like syndrome can occur, but rarely. The risk factors for developing the glomerulosclerosis in GSD-I include hyperfiltration, hypertension, hyperlipidemia and hyperuricemia. Dietary therapy with cornstarch and/or nasogastric infusion of glucose, aimed at maintaining normoglycemia, corrects metabolic abnormalities and improves the proximal renal tubular function. Long-term trial will be needed to assess whether the dietary therapy may prevent the evolution or the progression of the renal disease.

Duke Scholars

Published In

Pediatr Nephrol

DOI

ISSN

0931-041X

Publication Date

January 1991

Volume

5

Issue

1

Start / End Page

71 / 76

Location

Germany

Related Subject Headings

  • Urology & Nephrology
  • Kidney Transplantation
  • Kidney Diseases
  • Humans
  • Glycogen Storage Disease Type I
  • Glomerulosclerosis, Focal Segmental
  • 3213 Paediatrics
  • 3202 Clinical sciences
  • 1114 Paediatrics and Reproductive Medicine
 

Citation

APA
Chicago
ICMJE
MLA
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Chen, Y. T. (1991). Type I glycogen storage disease: kidney involvement, pathogenesis and its treatment. Pediatr Nephrol, 5(1), 71–76. https://doi.org/10.1007/BF00852851
Chen, Y. T. “Type I glycogen storage disease: kidney involvement, pathogenesis and its treatment.Pediatr Nephrol 5, no. 1 (January 1991): 71–76. https://doi.org/10.1007/BF00852851.
Chen, Y. T. “Type I glycogen storage disease: kidney involvement, pathogenesis and its treatment.Pediatr Nephrol, vol. 5, no. 1, Jan. 1991, pp. 71–76. Pubmed, doi:10.1007/BF00852851.
Journal cover image

Published In

Pediatr Nephrol

DOI

ISSN

0931-041X

Publication Date

January 1991

Volume

5

Issue

1

Start / End Page

71 / 76

Location

Germany

Related Subject Headings

  • Urology & Nephrology
  • Kidney Transplantation
  • Kidney Diseases
  • Humans
  • Glycogen Storage Disease Type I
  • Glomerulosclerosis, Focal Segmental
  • 3213 Paediatrics
  • 3202 Clinical sciences
  • 1114 Paediatrics and Reproductive Medicine