Biomaterial Database

Renal glomerular and tubular abnormalities in glycogen storage disease type I. 1988

R Verani, and J Bernstein

Department of Pathology, University of Texas Medical School, Houston 77225.

Three children had renal histopathologic findings indicative of glycogen storage disease type I. Glomerular basement membrane (GBM) alterations were present in the three patients, particularly so in the two patients with proteinuria. Thickening, lamellation, and glycogen deposition were the characteristic alterations in the GBM. Glomerulosclerosis was prominent in one patient. We suggest that the GBM alteration is related to the glomerular sclerosis and that both are related to metabolic derangements of glycogen storage disease type I.

UI	MeSH Term	Description	Entries
D007231	Infant, Newborn	An infant during the first 28 days after birth.	Neonate,Newborns,Infants, Newborn,Neonates,Newborn,Newborn Infant,Newborn Infants
D007678	Kidney Glomerulus	A cluster of convoluted capillaries beginning at each nephric tubule in the kidney and held together by connective tissue.	Glomerulus, Kidney
D007684	Kidney Tubules	Long convoluted tubules in the nephrons. They collect filtrate from blood passing through the KIDNEY GLOMERULUS and process this filtrate into URINE. Each renal tubule consists of a BOWMAN CAPSULE; PROXIMAL KIDNEY TUBULE; LOOP OF HENLE; DISTAL KIDNEY TUBULE; and KIDNEY COLLECTING DUCT leading to the central cavity of the kidney (KIDNEY PELVIS) that connects to the URETER.	Kidney Tubule,Tubule, Kidney,Tubules, Kidney
D008297	Male		Males
D009400	Nephrosclerosis	Hardening of the KIDNEY due to infiltration by fibrous connective tissue (FIBROSIS), usually caused by renovascular diseases or chronic HYPERTENSION. Nephrosclerosis leads to renal ISCHEMIA.	Nephroscleroses
D002675	Child, Preschool	A child between the ages of 2 and 5.	Children, Preschool,Preschool Child,Preschool Children
D005260	Female		Females
D005953	Glycogen Storage Disease Type I	An autosomal recessive disease in which gene expression of glucose-6-phosphatase is absent, resulting in hypoglycemia due to lack of glucose production. Accumulation of glycogen in liver and kidney leads to organomegaly, particularly massive hepatomegaly. Increased concentrations of lactic acid and hyperlipidemia appear in the plasma. Clinical gout often appears in early childhood.	Glucose-6-Phosphatase Deficiency,Glucosephosphatase Deficiency,Glycogenosis 1,Hepatorenal Glycogen Storage Disease,von Gierke Disease,Deficiency, Glucosephosphatase,Gierke Disease,Gierke's Disease,Glycogen Storage Disease 1 (GSD I),von Gierke's Disease,Deficiencies, Glucose-6-Phosphatase,Deficiencies, Glucosephosphatase,Deficiency, Glucose-6-Phosphatase,Disease, Gierke,Disease, Gierke's,Disease, von Gierke,Disease, von Gierke's,Gierkes Disease,Glucose 6 Phosphatase Deficiency,Glucose-6-Phosphatase Deficiencies,Glucosephosphatase Deficiencies,von Gierkes Disease
D006003	Glycogen
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man