Metabolic control and renal dysfunction in type I glycogen storage disease

This study was undertaken to determine the effect on renal function of continuous glucose therapy from early childhood. Twenty-three subjects, median age 13.9 years, range 5.9-26.9 years, with type I glycogen storage disease (GSDI) treated with continuous glucose therapy from a median age of 1.3 years, range 0.1-12.9 years, had 24 h monitoring of metabolites and glucoregulatory hormones on their home feeding regimen to assess metabolic control at approximately yearly intervals for a median duration of 8 years. During the most recent evaluation, 24 h urinary albumin excretion rate (AER), kidney size, and creatinine clearance (Ccr) were measured. CCr was unrelated to age and was increased (> 2.33 ml/s per 1.73 m2) in 10/23 (43%). Mean kidney length exceeded 2SD in 16/23 (70%). AER was normal in all five subjects < 10 years and was increased (> 10 micrograms/min) in 8/23 (35%), all > 10 years of age. AER was significantly greater in subject of similar age who started continuous glucose therapy later in childhood and was significantly higher in subjects with lower mean 24 h plasma glucose concentrations and higher mean 24 h blood lactate concentrations, both at the time of assessment of renal function and over the preceding 5 years. GSDI subjects with persistently elevated concentrations of blood lactate, serum lipids and uric acid are at increased risk of nephropathy. Optimal dietary therapy instituted early in life may delay, prevent, or slow the progression of renal disease.