Biomaterial Database

Disorders of the renal proximal tubule. 2011

Arend Bökenkamp, and Michael Ludwig

Department of Pediatrics, VU University Medical Center, Amsterdam, The Netherlands.

Following glomerular filtration, the bulk of solutes are reabsorbed in the proximal tubule to prevent excessive losses of vital metabolites. In this nephron segment, reabsorption is largely active via dedicated transporters. Hereditary defects in proximal tubular function are characterized by malabsorption affecting amino acids, glucose, potassium, phosphate, bicarbonate, low-molecular-weight proteins and other solutes handled by this nephron segment. Dysfunction may be isolated or generalized (Fanconi syndrome). Defects in specific transporters lead to increased urinary excretion of substrates, which are often diagnostic. In others, extrarenal gene expression causes a multisystem phenotype. In this review, we will give a short overview of the molecular genetics, clinical picture, pathophysiology and treatment of genetically defined proximal tubulopathies.

UI	MeSH Term	Description	Entries
D007687	Kidney Tubules, Proximal	The renal tubule portion that extends from the BOWMAN CAPSULE in the KIDNEY CORTEX into the KIDNEY MEDULLA. The proximal tubule consists of a convoluted proximal segment in the cortex, and a distal straight segment descending into the medulla where it forms the U-shaped LOOP OF HENLE.	Proximal Kidney Tubule,Proximal Renal Tubule,Kidney Tubule, Proximal,Proximal Kidney Tubules,Proximal Renal Tubules,Renal Tubule, Proximal,Renal Tubules, Proximal,Tubule, Proximal Kidney,Tubule, Proximal Renal,Tubules, Proximal Kidney,Tubules, Proximal Renal
D008954	Models, Biological	Theoretical representations that simulate the behavior or activity of biological processes or diseases. For disease models in living animals, DISEASE MODELS, ANIMAL is available. Biological models include the use of mathematical equations, computers, and other electronic equipment.	Biological Model,Biological Models,Model, Biological,Models, Biologic,Biologic Model,Biologic Models,Model, Biologic
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
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000818	Animals	Unicellular or multicellular, heterotrophic organisms, that have sensation and the power of voluntary movement. Under the older five kingdom paradigm, Animalia was one of the kingdoms. Under the modern three domain model, Animalia represents one of the many groups in the domain EUKARYOTA.	Animal,Metazoa,Animalia