R enal Fanconi syndromes are both clinically challenging and physiologically fascinating. The diagnosis requires a certain index of suspicion to correctly identify the clinical symptomatology and pursue the appropriate laboratory evaluations. With regard to the pathophysiology, the renal proximal tubule is the site of action. Through a complex and coordinated machinery of luminal and basolatera...

FANCONI SYNDROME is a renal dysfunction associated with a variety of metabolic disorders, including tyrosinemia, cystinosis, Wilson’s disease, glycogen storage disease,1 galactosemia and oculocerebrorenal syndrome of Lowe.2,3 Detection of maleate-induced Fanconi syndrome by decreasing accumulation of 125I-3-iodo-α-methyl-L-tyrosine in the proximal tubule segment-1 region of renal cortex in mice...

Four members of two glucose transporter families, SGLT1, SGLT2, GLUT1, and GLUT2, are differentially expressed in the kidney, and three of them have been shown to be necessary for normal glucose resorption from the glomerular filtrate. Mutations in SGLT1 are associated with glucose-galactose malabsorption, SGLT2 with familial renal glucosuria (FRG), and GLUT2 with Fanconi-Bickel syndrome. Patie...

The study of the proximal tubular function in inherited renal Fanconi syndrome offers a unique opportunity to augment insights in proximal tubular transport and signalling pathways and allows a better interpretation of tests applied for the evaluation of proximal tubular function in acquired disorders. The causes of inherited and acquired renal Fanconi syndrome are listed in Table 1. It is a co...

Inherited bone marrow failure syndromes are disorders of hematopoiesis that mostly encountered in childhood. Taking the basisfrom genetics, they characterized by pancytopenia, increased risk developing myelodysplastic syndrome and malignancy.Extrahematopoietic presentations observed often addition to symptoms related defective (also known asbone failure). The biology, clinical features, managem...

Alter, B.P. (2003) Cancer in Fanconi anemia, 1927– 2001. Cancer, 97, 425–440. Baron, F., Sybert, V.P. & Andrews, R.G. (1989) Cutaneous and extracutaneous neutrophilic infiltrates (Sweet syndrome) in three patients with Fanconi anemia. Journal of Pediatrics, 115, 726–729. Briot, D., Mace-Aime, G., Subra, F. & Rosselli, F. (2008) Aberrant activation of stress-response pathways leads to TNF-alpha ...

The Na(+)-glucose cotransporter hSGLT1 is a member of a class of membrane proteins that harness Na(+) electrochemical gradients to drive uphill solute transport. Although hSGLT1 belongs to one gene family (SLC5), recent structural studies of bacterial Na(+) cotransporters have shown that Na(+) transporters in different gene families have the same structural fold. We have constructed homology mo...

Dear Editor, Fanconi syndrome is the most common cause of proximal renal tubular acidosis (RTA) in children and is characterized by hypophosphatemia due to phos-phaturia, renal glucosuria (glucosuria with a normal plasma glucose concentration), aminoaciduria, and normal anion gap metabolic acidosis. Muscle weakness is one of the Fanconi syndrome manifestations. Valporic acid (VPA) is an anti-ep...

Cloned 20 years ago, GLUT2 is a facilitative glucose transporter in the liver, pancreas, intestine, kidney, and brain. It ensures large bidirectional fluxes of glucose in and out the cell due to its low affinity and high capacity. It also transports other dietary sugars, such as fructose and galactose, within the range of physiological concentrations. Sugars and hormones regulate its gene expre...