title: Type I glycogen storage disease: kidney involvement, pathogenesis and its treatment.
abstract: 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.
authors.affiliation: Department of Pediatrics, Duke University Medical Center, Durham, North Carolina 27710.
authors.forename: Y T
authors.initials: YT
authors.lastname: Chen
mesh_terms: D005923:Glomerulosclerosis, Focal Segmental / Q000209:etiology; D005953:Glycogen Storage Disease Type I / Q000150:complications* / Q000628:therapy; D006801:Humans; D007674:Kidney Diseases / Q000209:etiology*; D016030:Kidney Transplantation