Loss of renal phosphate wasting in a child with autosomal dominant hypophosphatemic rickets caused by a FGF23 mutation.
A girl with autosomal dominant hypophosphatemic rickets, presented with clinical, radiological and laboratory signs of rickets at the age of 11 months. She showed a good response to the treatment with low doses of oral phosphate and calcitriol. Surprisingly, she lost her renal phosphate wasting at the age of 8 years, indicating that the disturbed phosphate metabolism can be compensated by hormonal or other factors.
Kruse
K
K
Department of Pediatrics, Medical University of Lübeck, Germany.
Woelfel
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Strom
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D000284:Administration, Oral; D000375:Aging / Q000378:metabolism; D002117:Calcitriol / Q000008:administration & dosage / Q000627:therapeutic use; D002120:Calcium Channel Agonists / Q000008:administration & dosage / Q000627:therapeutic use; D002648:Child; D005260:Female; D000089703:Fibroblast Growth Factor-23; D005346:Fibroblast Growth Factors / Q000235:genetics*; D005799:Genes, Dominant; D006801:Humans; D007015:Hypophosphatemia, Familial / Q000188:drug therapy / Q000235:genetics*; D007668:Kidney / Q000378:metabolism*; D009154:Mutation; D010375:Pedigree; D010710:Phosphates / Q000008:administration & dosage / Q000378:metabolism* / Q000627:therapeutic use
D002120:Calcium Channel Agonists; C000717427:FGF23 protein, human; D010710:Phosphates; D005346:Fibroblast Growth Factors; D000089703:Fibroblast Growth Factor-23; D002117:Calcitriol