Evidence for a defect in vitamin D metabolism in a patient with incomplete Fanconi syndrome.
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.
D000328:Adult; D002117:Calcitriol / Q000097:blood / Q000627:therapeutic use; D002118:Calcium / Q000378:metabolism / Q000652:urine; D005198:Fanconi Syndrome / Q000188:drug therapy / Q000378:metabolism*; D005243:Feces / Q000032:analysis; D006801:Humans; D006852:Hydrochlorothiazide / Q000627:therapeutic use; D008297:Male; D010758:Phosphorus / Q000378:metabolism / Q000652:urine; D014807:Vitamin D / Q000378:metabolism*
D006852:Hydrochlorothiazide; D014807:Vitamin D; D010758:Phosphorus; D002117:Calcitriol; D002118:Calcium