Renal involvement in glycogen storage disease type 1: Practical issues]

To investigate risk factors of renal complications in glycogen storage disease type I, in order to identify practical implications for renal preservation.A retrospective study of 38 patients with glycogen storage disease type I.The patients studied were 8.6 years old in average (1.5 to 22 years) and were followed during 7.4±4.5 years. Hypercalciuria was detected in 23 patients and was related to acidosis (P=0.028), higher lactate levels (5.9±3.5 versus 3.7±1.7 mmol/L; P=0.013) and smaller height (-2.1±1.5 SD versus -0.8±1.5 SD; P=0.026). Urolithiasis was diagnosed in 7 cases. Glomerular disease (19/38) was more frequent in cases with severe hypertriglyceridemia (P=0.042) and occurred at an older age (P=0.007). Microalbuminuria occurred in 15/31 cases; ACE inhibitors were prescribed in only 8 cases. The frequency of renal complications did not differ according to the diet group (continuous enteral feeding or uncooked starch). Logistic regression concluded as risk factors: lactic acidosis for tubular disease and age>10 years for glomerular disease.Renal involvement is common in glycogen storage disease type I patients. Tubular abnormalities are precocious, related to lactic acidosis and may be detected by monitoring of urinary calcium. Glomerular hyperfiltration is the first stage of a progressive glomerular disease and is related to age. Practical implications for renal preservation are discussed based on our results and literature.