Elevated Serum 1,25-Dihydroxyvitamin D Concentrations in Siblings with Primary Fanconi's Syndrome

Martin Tieder, Raphael Arie, David Modai, Ruth Samuel, Joshua Weissgarten, Uri A. Liberman

Research output: Contribution to journalArticlepeer-review

Abstract

THE de Toni–Debré–Fanconi syndrome,1 2 3 or Fanconi's syndrome, is characterized by multiple abnormalities in renal tubular function. Defective handling of phosphate, glucose, and amino acids is the cardinal feature of the syndrome.12 Increased renal clearance of bicarbonate, sodium, potassium, calcium, and uric acid, as well as hyposthenuria, may be present.23 Rickets, osteomalacia, or both are important clinical manifestations. It has been reported that serum concentrations of 1,25-dihydroxyvitamin D (1,25-(OH)2D) in Fanconi's syndrome are either decreased4 5 6 7 or normal, but inappropriately low relative to the degree of hypophosphatemia.6 7 8 9 10 11 We describe two siblings with primary hereditary Fanconi's syndrome, severe bone disease, and.

Original languageEnglish
Pages (from-to)845-849
Number of pages5
JournalNew England Journal of Medicine
Volume319
Issue number13
DOIs
StatePublished - 29 Sep 1988
Externally publishedYes

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