Biomaterial Database

Excretion of beta 2-glycoprotein I (apolipoprotein H) in renal tubular disease. 1991

A G Norden, and L M Fulcher, and M Lapsley, and F V Flynn

Department of Chemical Pathology, Enfield District Hospital, The Ridgeway, Middlesex, U.K.

beta 2-Glycoprotein I (beta 2GI) was identified as a major urinary protein excreted by patients with several renal tubular diseases, including adult Fanconi syndrome, nephrocalcinosis associated with autoimmune diseases, Lowe's syndrome, and Dent's disease (a familial renal tubular disease). Sixteen patients excreted between 2 and 40 mg of beta 2GI per millimole of creatinine. In contrast, 18 healthy controls had undetectable amounts of beta 2GI in urine. Isoelectric focusing followed by immunoblotting demonstrated multiple forms of beta 2GI with pls between 6.4 and 8.2. These pls are higher than for several other "tubular proteins"; beta 2GI may therefore be less retarded than more-anionic proteins by the glomerular charge-barrier. This could explain why large quantities of beta 2GI are excreted despite its relatively high molecular mass (50 kDa). Excretion of beta 2GI was easily demonstrated by routine electrophoresis of urine proteins. beta 2GI migrates in the beta-gamma region and may be confused with Bence Jones protein. beta 2GI is stable for at least two years in urine frozen at -25 degrees C.

UI	MeSH Term	Description	Entries
D007674	Kidney Diseases	Pathological processes of the KIDNEY or its component tissues.	Disease, Kidney,Diseases, Kidney,Kidney Disease
D008297	Male		Males
D008875	Middle Aged	An adult aged 45 - 64 years.	Middle Age
D009397	Nephrocalcinosis	A condition characterized by calcification of the renal tissue itself. It is usually seen in distal RENAL TUBULAR ACIDOSIS with calcium deposition in the DISTAL KIDNEY TUBULES and the surrounding interstitium. Nephrocalcinosis causes RENAL INSUFFICIENCY.	Nephrocalcinoses
D009800	Oculocerebrorenal Syndrome	A sex-linked recessive disorder affecting multiple systems including the EYE, the NERVOUS SYSTEM, and the KIDNEY. Clinical features include congenital CATARACT; MENTAL RETARDATION; and renal tubular dysfunction (FANCONI SYNDROME; RENAL TUBULAR ACIDOSIS; X-LINKED HYPOPHOSPHATEMIA or vitamin-D-resistant rickets) and SCOLIOSIS. This condition is due to a deficiency of phosphatidylinositol 4,5-bisphosphate-5-phosphatase leading to defects in PHOSPHATIDYLINOSITOL metabolism and INOSITOL signaling pathway. (from Menkes, Textbook of Child Neurology, 5th ed, p60; Am J Hum Genet 1997 Jun;60(6):1384-8)	Cerebrooculorenal Syndrome,Lowe Syndrome,Cerebro-Oculo-Renal Syndrome,Lowe Disease,Lowe Oculocerebrorenal Syndrome,Lowe-Bickel Syndrome,Lowe-Terrey-MacLachlan Syndrome,Oculocerebrorenal Dystrophy,Oculocerebrorenal Syndrome of Lowe,Phosphatidylinositol 4,5-Bisphosphate 5-Phosphatase Deficiency,Phosphatidylinositol-4,5-Bisphosphate-5-Phosphatase Deficiency,Renal-Oculocerebrodystrophy,Cerebro Oculo Renal Syndrome,Deficiency, Phosphatidylinositol-4,5-Bisphosphate-5-Phosphatase,Dystrophy, Oculocerebrorenal,Lowe Bickel Syndrome,Lowe Terrey MacLachlan Syndrome,Phosphatidylinositol 4,5 Bisphosphate 5 Phosphatase Deficiency,Renal Oculocerebrodystrophy
D002648	Child	A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL.	Children
D005198	Fanconi Syndrome	A hereditary or acquired form of generalized dysfunction of the PROXIMAL KIDNEY TUBULE without primary involvement of the KIDNEY GLOMERULUS. It is usually characterized by the tubular wasting of nutrients and salts (GLUCOSE; AMINO ACIDS; PHOSPHATES; and BICARBONATES) resulting in HYPOKALEMIA; ACIDOSIS; HYPERCALCIURIA; and PROTEINURIA.	De Toni-Debre-Fanconi Syndrome,Lignac-Fanconi Syndrome,Proximal Renal Tubular Dysfunction,Renal Fanconi Syndrome,Adult Fanconi Syndrome,Fanconi Bickel Syndrome,Fanconi Renotubular Syndrome,Fanconi Syndrome with Intestinal Malabsorption and Galactose Intolerance,Fanconi Syndrome without Cystinosis,Fanconi-Bickel Syndrome,Glycogen Storage Disease XI,Glycogenosis, Fanconi Type,Hepatic Glycogenosis with Amino Aciduria and Glucosuria,Hepatic Glycogenosis with Fanconi Nephropathy,Hepatorenal Glycogenosis with Renal Fanconi Syndrome,Idiopathic De Toni-Debre-Fanconi Syndrome,Luder-Sheldon Syndrome,Neonatal De Toni-Debre-Fanconi Syndrome,Primary Toni-Debre-Fanconi Syndrome,Pseudo-Phlorizin Diabetes,Toni-Debre-Fanconi Syndrome,Bickel Syndrome, Fanconi,Diabete, Pseudo-Phlorizin,Diabetes, Pseudo-Phlorizin,Fanconi Syndrome, Adult,Fanconi Syndrome, Renal,Fanconi Type Glycogenosis,Fanconi-Bickel Syndromes,Lignac Fanconi Syndrome,Luder Sheldon Syndrome,Pseudo Phlorizin Diabetes,Pseudo-Phlorizin Diabete,Renotubular Syndrome, Fanconi,Syndrome, Adult Fanconi,Syndrome, Fanconi,Syndrome, Fanconi Bickel,Syndrome, Fanconi Renotubular,Syndrome, Fanconi-Bickel,Syndrome, Lignac-Fanconi,Syndrome, Luder-Sheldon,Syndrome, Renal Fanconi,Syndromes, Fanconi-Bickel
D005260	Female		Females
D006023	Glycoproteins	Conjugated protein-carbohydrate compounds including MUCINS; mucoid, and AMYLOID glycoproteins.	C-Glycosylated Proteins,Glycosylated Protein,Glycosylated Proteins,N-Glycosylated Proteins,O-Glycosylated Proteins,Glycoprotein,Neoglycoproteins,Protein, Glycosylated,Proteins, C-Glycosylated,Proteins, Glycosylated,Proteins, N-Glycosylated,Proteins, O-Glycosylated
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man