Hypophosphataemic osteomalacia due to de Toni-Debre-Fanconi syndrome in a 19-year old girl

Tasoula Tsilchorozidou, John G Yovos

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Osteomalacia associated with adult onset Fanconi syndrome is thought to result from hypophosphataemia due to renal phosphate loss and relative 1,25-dihydroxyvitamin D3 deficiency. In this disorder, the impaired renal phosphate uptake occurs as part of a generalized tubular defect in association with other features such as bicarbonuria, glycosuria and aminoaciduria…