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

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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.1 , 2 Increased renal clearance of bicarbonate, sodium, potassium, calcium, and uric acid, as well as hyposthenuria, may be present.2 , 3 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 . . .