The Experts below are selected from a list of 273 Experts worldwide ranked by ideXlab platform
Caroline Silve - One of the best experts on this subject based on the ideXlab platform.
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NHERF1 mutations and responsiveness of renal parathyroid hormone.
The New England journal of medicine, 2008Co-Authors: Zoubida Karim, Naziha Bakouh, Gabrielle Planelles, Laurent Beck, Bénédicte Gérard, Caroline Silve, Rohia Alili, Christine Leroy, Pablo Urena-torres, Bernard GrandchampAbstract:Impaired renal phosphate reabsorption, as measured by dividing the tubular maximal reabsorption of phosphate by the glomerular filtration rate (TmP/GFR), increases the risks of nephrolithiasis and Bone Demineralization. Data from animal models suggest that sodium-hydrogen exchanger regulatory factor 1 (NHERF1) controls renal phosphate transport. We sequenced the NHERF1 gene in 158 patients, 94 of whom had either nephrolithiasis or Bone Demineralization. We identified three distinct mutations in seven patients with a low TmP/GFR value. No patients with normal TmP/GFR values had mutations. The mutants expressed in cultured renal cells increased the generation of cyclic AMP (cAMP) by parathyroid hormone (PTH) and inhibited phosphate transport. These NHERF1 mutations suggest a previously unrecognized cause of renal phosphate loss in humans.
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Sodium-phosphate cotransporters, nephrolithiasis and Bone Demineralization.
Current Opinion in Nephrology and Hypertension, 2004Co-Authors: Dominique Prie, Laurent Beck, Gérard Friedlander, Caroline SilveAbstract:Purpose of reviewWe discuss how recent findings obtained in disorders of phosphate metabolism in humans and in animal models have provided insights into the pathogenesis of renal stone formation and Bone Demineralization.Recent findingsMice that are null for the sodium-phosphate cotransporter (NPT)2
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nephrolithiasis and osteoporosis associated with hypophosphatemia caused by mutations in the type 2a sodium phosphate cotransporter
The New England Journal of Medicine, 2002Co-Authors: Dominique Prie, Naziha Bakouh, Gabrielle Planelles, Philippe Hulin, Francois Benqueblanchet, Virginie Huart, Olivier Dellis, Bénédicte Gérard, Caroline Silve, Bernard GrandchampAbstract:Background Epidemiologic studies suggest that genetic factors confer a predisposition to the formation of renal calcium stones or Bone Demineralization. Low serum phosphate concentrations due to a ...
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nephrolithiasis and osteoporosis associated with hypophosphatemia caused by mutations in the type 2a sodium phosphate cotransporter
The New England Journal of Medicine, 2002Co-Authors: Dominique Prie, Naziha Bakouh, Gabrielle Planelles, Philippe Hulin, Francois Benqueblanchet, Virginie Huart, Olivier Dellis, Bénédicte Gérard, Caroline Silve, Bernard GrandchampAbstract:Background Epidemiologic studies suggest that genetic factors confer a predisposition to the formation of renal calcium stones or Bone Demineralization. Low serum phosphate concentrations due to a ...
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nephrolithiasis and osteoporosis associated with hypophosphatemia caused by mutations in the type 2a sodium phosphate cotransporter
The New England Journal of Medicine, 2002Co-Authors: Dominique Prie, Naziha Bakouh, Gabrielle Planelles, Philippe Hulin, Francois Benqueblanchet, Virginie Huart, Olivier Dellis, Bénédicte Gérard, Caroline Silve, Bernard GrandchampAbstract:Background Epidemiologic studies suggest that genetic factors confer a predisposition to the formation of renal calcium stones or Bone Demineralization. Low serum phosphate concentrations due to a decrease in renal phosphate reabsorption have been reported in some patients with these conditions, suggesting that genetic factors leading to a decrease in renal phosphate reabsorption may contribute to them. We hypothesized that mutations in the gene coding for the main renal sodium–phosphate cotransporter (NPT2a) may be present in patients with these disorders. Methods We studied 20 patients with urolithiasis or Bone Demineralization and persistent idiopathic hypophosphatemia associated with a decrease in maximal renal phosphate reabsorption. The coding region of the gene for NPT2a was sequenced in all patients. The functional consequences of the mutations identified were analyzed by expressing the mutated RNA in Xenopus laevis oocytes. Results Two patients, one with recurrent urolithiasis and one with Bone d...
Dominique Prie - One of the best experts on this subject based on the ideXlab platform.
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Sodium-phosphate cotransporters, nephrolithiasis and Bone Demineralization.
Current Opinion in Nephrology and Hypertension, 2004Co-Authors: Dominique Prie, Laurent Beck, Gérard Friedlander, Caroline SilveAbstract:Purpose of reviewWe discuss how recent findings obtained in disorders of phosphate metabolism in humans and in animal models have provided insights into the pathogenesis of renal stone formation and Bone Demineralization.Recent findingsMice that are null for the sodium-phosphate cotransporter (NPT)2
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nephrolithiasis and osteoporosis associated with hypophosphatemia caused by mutations in the type 2a sodium phosphate cotransporter
The New England Journal of Medicine, 2002Co-Authors: Dominique Prie, Naziha Bakouh, Gabrielle Planelles, Philippe Hulin, Francois Benqueblanchet, Virginie Huart, Olivier Dellis, Bénédicte Gérard, Caroline Silve, Bernard GrandchampAbstract:Background Epidemiologic studies suggest that genetic factors confer a predisposition to the formation of renal calcium stones or Bone Demineralization. Low serum phosphate concentrations due to a ...
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nephrolithiasis and osteoporosis associated with hypophosphatemia caused by mutations in the type 2a sodium phosphate cotransporter
The New England Journal of Medicine, 2002Co-Authors: Dominique Prie, Naziha Bakouh, Gabrielle Planelles, Philippe Hulin, Francois Benqueblanchet, Virginie Huart, Olivier Dellis, Bénédicte Gérard, Caroline Silve, Bernard GrandchampAbstract:Background Epidemiologic studies suggest that genetic factors confer a predisposition to the formation of renal calcium stones or Bone Demineralization. Low serum phosphate concentrations due to a ...
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nephrolithiasis and osteoporosis associated with hypophosphatemia caused by mutations in the type 2a sodium phosphate cotransporter
The New England Journal of Medicine, 2002Co-Authors: Dominique Prie, Naziha Bakouh, Gabrielle Planelles, Philippe Hulin, Francois Benqueblanchet, Virginie Huart, Olivier Dellis, Bénédicte Gérard, Caroline Silve, Bernard GrandchampAbstract:Background Epidemiologic studies suggest that genetic factors confer a predisposition to the formation of renal calcium stones or Bone Demineralization. Low serum phosphate concentrations due to a decrease in renal phosphate reabsorption have been reported in some patients with these conditions, suggesting that genetic factors leading to a decrease in renal phosphate reabsorption may contribute to them. We hypothesized that mutations in the gene coding for the main renal sodium–phosphate cotransporter (NPT2a) may be present in patients with these disorders. Methods We studied 20 patients with urolithiasis or Bone Demineralization and persistent idiopathic hypophosphatemia associated with a decrease in maximal renal phosphate reabsorption. The coding region of the gene for NPT2a was sequenced in all patients. The functional consequences of the mutations identified were analyzed by expressing the mutated RNA in Xenopus laevis oocytes. Results Two patients, one with recurrent urolithiasis and one with Bone d...
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nephrolithiasis and osteoporosis associated with hypophosphatemia caused by mutations in the type 2a sodium phosphate cotransporter
The New England Journal of Medicine, 2002Co-Authors: Dominique Prie, Naziha Bakouh, Gabrielle Planelles, Philippe Hulin, Francois Benqueblanchet, Virginie Huart, Olivier Dellis, Bénédicte Gérard, Caroline Silve, Bernard GrandchampAbstract:Background Epidemiologic studies suggest that genetic factors confer a predisposition to the formation of renal calcium stones or Bone Demineralization. Low serum phosphate concentrations due to a decrease in renal phosphate reabsorption have been reported in some patients with these conditions, suggesting that genetic factors leading to a decrease in renal phosphate reabsorption may contribute to them. We hypothesized that mutations in the gene coding for the main renal sodium–phosphate cotransporter (NPT2a) may be present in patients with these disorders. Methods We studied 20 patients with urolithiasis or Bone Demineralization and persistent idiopathic hypophosphatemia associated with a decrease in maximal renal phosphate reabsorption. The coding region of the gene for NPT2a was sequenced in all patients. The functional consequences of the mutations identified were analyzed by expressing the mutated RNA in Xenopus laevis oocytes. Results Two patients, one with recurrent urolithiasis and one with Bone d...
Bernard Grandchamp - One of the best experts on this subject based on the ideXlab platform.
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NHERF1 mutations and responsiveness of renal parathyroid hormone.
The New England journal of medicine, 2008Co-Authors: Zoubida Karim, Naziha Bakouh, Gabrielle Planelles, Laurent Beck, Bénédicte Gérard, Caroline Silve, Rohia Alili, Christine Leroy, Pablo Urena-torres, Bernard GrandchampAbstract:Impaired renal phosphate reabsorption, as measured by dividing the tubular maximal reabsorption of phosphate by the glomerular filtration rate (TmP/GFR), increases the risks of nephrolithiasis and Bone Demineralization. Data from animal models suggest that sodium-hydrogen exchanger regulatory factor 1 (NHERF1) controls renal phosphate transport. We sequenced the NHERF1 gene in 158 patients, 94 of whom had either nephrolithiasis or Bone Demineralization. We identified three distinct mutations in seven patients with a low TmP/GFR value. No patients with normal TmP/GFR values had mutations. The mutants expressed in cultured renal cells increased the generation of cyclic AMP (cAMP) by parathyroid hormone (PTH) and inhibited phosphate transport. These NHERF1 mutations suggest a previously unrecognized cause of renal phosphate loss in humans.
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nephrolithiasis and osteoporosis associated with hypophosphatemia caused by mutations in the type 2a sodium phosphate cotransporter
The New England Journal of Medicine, 2002Co-Authors: Dominique Prie, Naziha Bakouh, Gabrielle Planelles, Philippe Hulin, Francois Benqueblanchet, Virginie Huart, Olivier Dellis, Bénédicte Gérard, Caroline Silve, Bernard GrandchampAbstract:Background Epidemiologic studies suggest that genetic factors confer a predisposition to the formation of renal calcium stones or Bone Demineralization. Low serum phosphate concentrations due to a ...
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nephrolithiasis and osteoporosis associated with hypophosphatemia caused by mutations in the type 2a sodium phosphate cotransporter
The New England Journal of Medicine, 2002Co-Authors: Dominique Prie, Naziha Bakouh, Gabrielle Planelles, Philippe Hulin, Francois Benqueblanchet, Virginie Huart, Olivier Dellis, Bénédicte Gérard, Caroline Silve, Bernard GrandchampAbstract:Background Epidemiologic studies suggest that genetic factors confer a predisposition to the formation of renal calcium stones or Bone Demineralization. Low serum phosphate concentrations due to a ...
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nephrolithiasis and osteoporosis associated with hypophosphatemia caused by mutations in the type 2a sodium phosphate cotransporter
The New England Journal of Medicine, 2002Co-Authors: Dominique Prie, Naziha Bakouh, Gabrielle Planelles, Philippe Hulin, Francois Benqueblanchet, Virginie Huart, Olivier Dellis, Bénédicte Gérard, Caroline Silve, Bernard GrandchampAbstract:Background Epidemiologic studies suggest that genetic factors confer a predisposition to the formation of renal calcium stones or Bone Demineralization. Low serum phosphate concentrations due to a decrease in renal phosphate reabsorption have been reported in some patients with these conditions, suggesting that genetic factors leading to a decrease in renal phosphate reabsorption may contribute to them. We hypothesized that mutations in the gene coding for the main renal sodium–phosphate cotransporter (NPT2a) may be present in patients with these disorders. Methods We studied 20 patients with urolithiasis or Bone Demineralization and persistent idiopathic hypophosphatemia associated with a decrease in maximal renal phosphate reabsorption. The coding region of the gene for NPT2a was sequenced in all patients. The functional consequences of the mutations identified were analyzed by expressing the mutated RNA in Xenopus laevis oocytes. Results Two patients, one with recurrent urolithiasis and one with Bone d...
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nephrolithiasis and osteoporosis associated with hypophosphatemia caused by mutations in the type 2a sodium phosphate cotransporter
The New England Journal of Medicine, 2002Co-Authors: Dominique Prie, Naziha Bakouh, Gabrielle Planelles, Philippe Hulin, Francois Benqueblanchet, Virginie Huart, Olivier Dellis, Bénédicte Gérard, Caroline Silve, Bernard GrandchampAbstract:Background Epidemiologic studies suggest that genetic factors confer a predisposition to the formation of renal calcium stones or Bone Demineralization. Low serum phosphate concentrations due to a decrease in renal phosphate reabsorption have been reported in some patients with these conditions, suggesting that genetic factors leading to a decrease in renal phosphate reabsorption may contribute to them. We hypothesized that mutations in the gene coding for the main renal sodium–phosphate cotransporter (NPT2a) may be present in patients with these disorders. Methods We studied 20 patients with urolithiasis or Bone Demineralization and persistent idiopathic hypophosphatemia associated with a decrease in maximal renal phosphate reabsorption. The coding region of the gene for NPT2a was sequenced in all patients. The functional consequences of the mutations identified were analyzed by expressing the mutated RNA in Xenopus laevis oocytes. Results Two patients, one with recurrent urolithiasis and one with Bone d...
Naziha Bakouh - One of the best experts on this subject based on the ideXlab platform.
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NHERF1 mutations and responsiveness of renal parathyroid hormone.
The New England journal of medicine, 2008Co-Authors: Zoubida Karim, Naziha Bakouh, Gabrielle Planelles, Laurent Beck, Bénédicte Gérard, Caroline Silve, Rohia Alili, Christine Leroy, Pablo Urena-torres, Bernard GrandchampAbstract:Impaired renal phosphate reabsorption, as measured by dividing the tubular maximal reabsorption of phosphate by the glomerular filtration rate (TmP/GFR), increases the risks of nephrolithiasis and Bone Demineralization. Data from animal models suggest that sodium-hydrogen exchanger regulatory factor 1 (NHERF1) controls renal phosphate transport. We sequenced the NHERF1 gene in 158 patients, 94 of whom had either nephrolithiasis or Bone Demineralization. We identified three distinct mutations in seven patients with a low TmP/GFR value. No patients with normal TmP/GFR values had mutations. The mutants expressed in cultured renal cells increased the generation of cyclic AMP (cAMP) by parathyroid hormone (PTH) and inhibited phosphate transport. These NHERF1 mutations suggest a previously unrecognized cause of renal phosphate loss in humans.
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nephrolithiasis and osteoporosis associated with hypophosphatemia caused by mutations in the type 2a sodium phosphate cotransporter
The New England Journal of Medicine, 2002Co-Authors: Dominique Prie, Naziha Bakouh, Gabrielle Planelles, Philippe Hulin, Francois Benqueblanchet, Virginie Huart, Olivier Dellis, Bénédicte Gérard, Caroline Silve, Bernard GrandchampAbstract:Background Epidemiologic studies suggest that genetic factors confer a predisposition to the formation of renal calcium stones or Bone Demineralization. Low serum phosphate concentrations due to a ...
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nephrolithiasis and osteoporosis associated with hypophosphatemia caused by mutations in the type 2a sodium phosphate cotransporter
The New England Journal of Medicine, 2002Co-Authors: Dominique Prie, Naziha Bakouh, Gabrielle Planelles, Philippe Hulin, Francois Benqueblanchet, Virginie Huart, Olivier Dellis, Bénédicte Gérard, Caroline Silve, Bernard GrandchampAbstract:Background Epidemiologic studies suggest that genetic factors confer a predisposition to the formation of renal calcium stones or Bone Demineralization. Low serum phosphate concentrations due to a ...
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nephrolithiasis and osteoporosis associated with hypophosphatemia caused by mutations in the type 2a sodium phosphate cotransporter
The New England Journal of Medicine, 2002Co-Authors: Dominique Prie, Naziha Bakouh, Gabrielle Planelles, Philippe Hulin, Francois Benqueblanchet, Virginie Huart, Olivier Dellis, Bénédicte Gérard, Caroline Silve, Bernard GrandchampAbstract:Background Epidemiologic studies suggest that genetic factors confer a predisposition to the formation of renal calcium stones or Bone Demineralization. Low serum phosphate concentrations due to a decrease in renal phosphate reabsorption have been reported in some patients with these conditions, suggesting that genetic factors leading to a decrease in renal phosphate reabsorption may contribute to them. We hypothesized that mutations in the gene coding for the main renal sodium–phosphate cotransporter (NPT2a) may be present in patients with these disorders. Methods We studied 20 patients with urolithiasis or Bone Demineralization and persistent idiopathic hypophosphatemia associated with a decrease in maximal renal phosphate reabsorption. The coding region of the gene for NPT2a was sequenced in all patients. The functional consequences of the mutations identified were analyzed by expressing the mutated RNA in Xenopus laevis oocytes. Results Two patients, one with recurrent urolithiasis and one with Bone d...
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nephrolithiasis and osteoporosis associated with hypophosphatemia caused by mutations in the type 2a sodium phosphate cotransporter
The New England Journal of Medicine, 2002Co-Authors: Dominique Prie, Naziha Bakouh, Gabrielle Planelles, Philippe Hulin, Francois Benqueblanchet, Virginie Huart, Olivier Dellis, Bénédicte Gérard, Caroline Silve, Bernard GrandchampAbstract:Background Epidemiologic studies suggest that genetic factors confer a predisposition to the formation of renal calcium stones or Bone Demineralization. Low serum phosphate concentrations due to a decrease in renal phosphate reabsorption have been reported in some patients with these conditions, suggesting that genetic factors leading to a decrease in renal phosphate reabsorption may contribute to them. We hypothesized that mutations in the gene coding for the main renal sodium–phosphate cotransporter (NPT2a) may be present in patients with these disorders. Methods We studied 20 patients with urolithiasis or Bone Demineralization and persistent idiopathic hypophosphatemia associated with a decrease in maximal renal phosphate reabsorption. The coding region of the gene for NPT2a was sequenced in all patients. The functional consequences of the mutations identified were analyzed by expressing the mutated RNA in Xenopus laevis oocytes. Results Two patients, one with recurrent urolithiasis and one with Bone d...
Bénédicte Gérard - One of the best experts on this subject based on the ideXlab platform.
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NHERF1 mutations and responsiveness of renal parathyroid hormone.
The New England journal of medicine, 2008Co-Authors: Zoubida Karim, Naziha Bakouh, Gabrielle Planelles, Laurent Beck, Bénédicte Gérard, Caroline Silve, Rohia Alili, Christine Leroy, Pablo Urena-torres, Bernard GrandchampAbstract:Impaired renal phosphate reabsorption, as measured by dividing the tubular maximal reabsorption of phosphate by the glomerular filtration rate (TmP/GFR), increases the risks of nephrolithiasis and Bone Demineralization. Data from animal models suggest that sodium-hydrogen exchanger regulatory factor 1 (NHERF1) controls renal phosphate transport. We sequenced the NHERF1 gene in 158 patients, 94 of whom had either nephrolithiasis or Bone Demineralization. We identified three distinct mutations in seven patients with a low TmP/GFR value. No patients with normal TmP/GFR values had mutations. The mutants expressed in cultured renal cells increased the generation of cyclic AMP (cAMP) by parathyroid hormone (PTH) and inhibited phosphate transport. These NHERF1 mutations suggest a previously unrecognized cause of renal phosphate loss in humans.
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nephrolithiasis and osteoporosis associated with hypophosphatemia caused by mutations in the type 2a sodium phosphate cotransporter
The New England Journal of Medicine, 2002Co-Authors: Dominique Prie, Naziha Bakouh, Gabrielle Planelles, Philippe Hulin, Francois Benqueblanchet, Virginie Huart, Olivier Dellis, Bénédicte Gérard, Caroline Silve, Bernard GrandchampAbstract:Background Epidemiologic studies suggest that genetic factors confer a predisposition to the formation of renal calcium stones or Bone Demineralization. Low serum phosphate concentrations due to a ...
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nephrolithiasis and osteoporosis associated with hypophosphatemia caused by mutations in the type 2a sodium phosphate cotransporter
The New England Journal of Medicine, 2002Co-Authors: Dominique Prie, Naziha Bakouh, Gabrielle Planelles, Philippe Hulin, Francois Benqueblanchet, Virginie Huart, Olivier Dellis, Bénédicte Gérard, Caroline Silve, Bernard GrandchampAbstract:Background Epidemiologic studies suggest that genetic factors confer a predisposition to the formation of renal calcium stones or Bone Demineralization. Low serum phosphate concentrations due to a ...
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nephrolithiasis and osteoporosis associated with hypophosphatemia caused by mutations in the type 2a sodium phosphate cotransporter
The New England Journal of Medicine, 2002Co-Authors: Dominique Prie, Naziha Bakouh, Gabrielle Planelles, Philippe Hulin, Francois Benqueblanchet, Virginie Huart, Olivier Dellis, Bénédicte Gérard, Caroline Silve, Bernard GrandchampAbstract:Background Epidemiologic studies suggest that genetic factors confer a predisposition to the formation of renal calcium stones or Bone Demineralization. Low serum phosphate concentrations due to a decrease in renal phosphate reabsorption have been reported in some patients with these conditions, suggesting that genetic factors leading to a decrease in renal phosphate reabsorption may contribute to them. We hypothesized that mutations in the gene coding for the main renal sodium–phosphate cotransporter (NPT2a) may be present in patients with these disorders. Methods We studied 20 patients with urolithiasis or Bone Demineralization and persistent idiopathic hypophosphatemia associated with a decrease in maximal renal phosphate reabsorption. The coding region of the gene for NPT2a was sequenced in all patients. The functional consequences of the mutations identified were analyzed by expressing the mutated RNA in Xenopus laevis oocytes. Results Two patients, one with recurrent urolithiasis and one with Bone d...
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nephrolithiasis and osteoporosis associated with hypophosphatemia caused by mutations in the type 2a sodium phosphate cotransporter
The New England Journal of Medicine, 2002Co-Authors: Dominique Prie, Naziha Bakouh, Gabrielle Planelles, Philippe Hulin, Francois Benqueblanchet, Virginie Huart, Olivier Dellis, Bénédicte Gérard, Caroline Silve, Bernard GrandchampAbstract:Background Epidemiologic studies suggest that genetic factors confer a predisposition to the formation of renal calcium stones or Bone Demineralization. Low serum phosphate concentrations due to a decrease in renal phosphate reabsorption have been reported in some patients with these conditions, suggesting that genetic factors leading to a decrease in renal phosphate reabsorption may contribute to them. We hypothesized that mutations in the gene coding for the main renal sodium–phosphate cotransporter (NPT2a) may be present in patients with these disorders. Methods We studied 20 patients with urolithiasis or Bone Demineralization and persistent idiopathic hypophosphatemia associated with a decrease in maximal renal phosphate reabsorption. The coding region of the gene for NPT2a was sequenced in all patients. The functional consequences of the mutations identified were analyzed by expressing the mutated RNA in Xenopus laevis oocytes. Results Two patients, one with recurrent urolithiasis and one with Bone d...