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Hypercalciuria in idiopathic fanconi syndrome

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A 9 year old girl with idiopathic Fanconi syndrome and hypercalciuria is described. In order to determine whether the increased calcium excretion was directly or indirectly due to the disturbed phosphate metabolism, the behavior of the calcium excretion during therapy, the serum levels of 1,25-dihydroxyvitamin D and parathyroid hormone, and the effect of parathyroid hormone on the renal tubules were investigated. Normal serum 1,25-dihydroxyvitamin D and parathyroid hormone levels, lack of a correlation between the serum phosphate concentration and the degree of hypercalciuria, as well as unsuccessful therapy of the hypercalciuria with oral phosphate indicate that the increased calcium excretion cannot be explained by impaired renal phosphate reabsorption. The hypercalciuria in the patient was therefore regarded as being due to a primary decrease of tubular calcium reabsorption.

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Kruse, K., Bartels, H. Hypercalciuria in idiopathic fanconi syndrome. Eur J Pediatr 131, 247–254 (1979). https://doi.org/10.1007/BF00444345

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Key words

  • Fanconi syndrome
  • Idiopathic hypercalciuria
  • 1,25-dihydroxyvitamin D
  • Parathyroid hormone
  • Cyclic AMP excretion
  • Hydrochlorothiazide