Abstract
Glycogen storage disease (GSD) is a group of congenital defects involved in the synthesis and decomposition of glycogen. As the most common type, GSD I is caused by mutations in glucose-6-phophate catalytic subunit (type Ia), or glucose-6-phosphate transporter (type Ib). Both defects can lead to hypoglycemia and accumulation of glycogen in the liver and kidney. So renal lesion is one of the main complications, which may manifest as increased glomerular filtration rate in the early stage, followed by microalbuminuria and decreased glomerular filtration rate and proteinuria. Subsequently it may progress into renal interstitial fibrosis, glomerulosclerosis, and eventually renal failure. Early detection and timely intervention of renal impairment are very important. Here we mainly describe the progress of diagnosis and treatment on the kidney disease of glycogen storage disease type I.