Abstract
Clinical manifestations of type I glycogen storage disease (GSD-I) include growth retardation, hepatomegaly, lactic acidosis, hyperuricemia and hyperlipidemia. Kidney enlargement is common, but renal disease has not been appreciated as a major component of GSD-I. Of thirty-four GSD-I patients (32 type Ia and 2 type Ib) under our care, 15 children less than 10 years old have normal renal function. Of the 19 older patients (11 to 47 y), 11 have evidence of disturbed renal function, manifested by proteinuria, hypertension or decreased creatinine clearance, and three patients have died with renal failure (18, 24 and 28 y). Hyperuricemia had been well-controlled with allopurinol and diet. Only three female patients have had recurrent urinary tract infections. We investigated two patients (13 and 18 y) with progressive deterioration of renal function after a long history of proteinuria. Albuminuria of up to 5 g/day was documented. Renal biopsy showed focal segmental glomerulosclerosis and interstitial fibrosis. Neither patient had evident renal tubular dysfunction or urological abnormalities. Progressive renal dysfunction appears to be a frequent and serious potential complication of GSD-I. Its relationship to glucose-6-phosphatase deficiency in the kidney itself, to the lack of effective dietary management of hypoglycemia, or to recurrent infection is unclear.
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Chen, YT., Coleman, R., Scheinman, J. et al. CHRONIC RENAL DISEASE IN TYPE I GLYCCGEN STORAGE DISEASE. Pediatr Res 21 (Suppl 4), 340 (1987). https://doi.org/10.1203/00006450-198704010-01038
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DOI: https://doi.org/10.1203/00006450-198704010-01038