Evidence for a Defect in Vitamin D Metabolism in a Patient with Incomplete Fanconi Syndrome*
- 1 November 1984
- journal article
- research article
- Published by The Endocrine Society in Journal of Clinical Endocrinology & Metabolism
- Vol. 59 (5) , 998-1001
- https://doi.org/10.1210/jcem-59-5-998
Abstract
A patient with incomplete Fanconi syndrome (no metabolic acidosis) presented with muscle weakness and biochemical and radiographic evidence of osteomalacia. Despite hypophosphatemia and increased PTH levels, circulating concentrations of 1,25-dihydroxyvitamin D were inappropriately low. Treatment with the vitamin D metabolite and hydrochlorothiazide was attended by enhanced calcium and phosphorus balance. Impaired vitamin D metabolism may play a role in the pathogenesis of osteomalacia in the Fanconi syndrome.Keywords
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