Abstract
Fanconi’s syndrome (FS) is a global disorder of proximal tubule transport characterized by renal glucosuria with normal serum glucose, generalized aminoaciduria, hypophosphatemia, frequently associated with chronic acidosis, hypouricemia, and hypokalemia. The proximal tubule is composed of highly polarized cells with two specific properties. First, it reabsorbs the bulk of electrolytes and all the glucose filtered by the glomerulus mostly through sodium-coupled co-transporters located in the brush-border membrane. This reabsorption process is driven by the Na, K, ATPase pump of the basolateral membrane and requires a constant supply of ATP that is provided by mitochondria (Fig. 1). In addition, the proximal tubule exhibits a high rate of endocytotic activity mediated by two major proteins, megalin and cubilin, which permits complete reabsorption of filtered low-molecular weight proteins, transferrin, vitamins, and other components (see Chapter 4 in this volume). This activity is also involved in the recycling from and to the brush-border membrane of apical transporters.
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Ronco, P., Mougenot, B., Moulin, B., Bouiller, M., Messiaen, T., Aucouturier, P. (2003). Adult Fanconi’s syndrome due to monoclonal immunoglobulin light chains: an underdiagnosed disease with unexpected clinical and pathologic heterogeneity. In: Touchard, G., Aucouturier, P., Hermine, O., Ronco, P. (eds) Monoclonal Gammopathies and the Kidney. Springer, Dordrecht. https://doi.org/10.1007/978-94-017-0191-4_8
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DOI: https://doi.org/10.1007/978-94-017-0191-4_8
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