Renal involvement in type I glycogen storage disease. Report of one case. 1994

A Lara, and J R Armas, and V Marti, and A Hevia, and C Jarava, and A Palma
Nephrology Service, Hospital Universitario Virgen Macarena, Sevilla, Spain.

UI MeSH Term Description Entries
D007668 Kidney Body organ that filters blood for the secretion of URINE and that regulates ion concentrations. Kidneys
D007676 Kidney Failure, Chronic The end-stage of CHRONIC RENAL INSUFFICIENCY. It is characterized by the severe irreversible kidney damage (as measured by the level of PROTEINURIA) and the reduction in GLOMERULAR FILTRATION RATE to less than 15 ml per min (Kidney Foundation: Kidney Disease Outcome Quality Initiative, 2002). These patients generally require HEMODIALYSIS or KIDNEY TRANSPLANTATION. ESRD,End-Stage Renal Disease,Renal Disease, End-Stage,Renal Failure, Chronic,Renal Failure, End-Stage,Chronic Kidney Failure,End-Stage Kidney Disease,Chronic Renal Failure,Disease, End-Stage Kidney,Disease, End-Stage Renal,End Stage Kidney Disease,End Stage Renal Disease,End-Stage Renal Failure,Kidney Disease, End-Stage,Renal Disease, End Stage,Renal Failure, End Stage
D008297 Male Males
D008854 Microscopy, Electron Microscopy using an electron beam, instead of light, to visualize the sample, thereby allowing much greater magnification. The interactions of ELECTRONS with specimens are used to provide information about the fine structure of that specimen. In TRANSMISSION ELECTRON MICROSCOPY the reactions of the electrons that are transmitted through the specimen are imaged. In SCANNING ELECTRON MICROSCOPY an electron beam falls at a non-normal angle on the specimen and the image is derived from the reactions occurring above the plane of the specimen. Electron Microscopy
D011507 Proteinuria The presence of proteins in the urine, an indicator of KIDNEY DISEASES. Proteinurias
D005355 Fibrosis Any pathological condition where fibrous connective tissue invades any organ, usually as a consequence of inflammation or other injury. Cirrhosis,Fibroses
D005923 Glomerulosclerosis, Focal Segmental A clinicopathological syndrome or diagnostic term for a type of glomerular injury that has multiple causes, primary or secondary. Clinical features include PROTEINURIA, reduced GLOMERULAR FILTRATION RATE, and EDEMA. Kidney biopsy initially indicates focal segmental glomerular consolidation (hyalinosis) or scarring which can progress to globally sclerotic glomeruli leading to eventual KIDNEY FAILURE. Glomerulonephritis, Focal Sclerosing,Hyalinosis, Segmental Glomerular,Focal Segmental Glomerulosclerosis,Glomerulosclerosis, Focal,Hyalinosis, Segmental,Segmental Glomerular Hyalinosis,Focal Glomerulosclerosis,Focal Sclerosing Glomerulonephritides,Focal Sclerosing Glomerulonephritis,Glomerular Hyalinosis, Segmental,Glomerulonephritides, Focal Sclerosing,Sclerosing Glomerulonephritides, Focal,Sclerosing Glomerulonephritis, Focal,Segmental Glomerulosclerosis, Focal,Segmental Hyalinosis
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
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000328 Adult A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available. Adults

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