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Journal of Clinical Endocrinology & Metabolism, Vol 59, 998-1001, Copyright © 1984 by Endocrine Society

ARTICLES

Evidence for a defect in vitamin D metabolism in a patient with incomplete Fanconi syndrome

DT Baran and TW Marcy

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.




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Copyright © 1984 by The Endocrine Society