Loss of Renal Phosphate Wasting in a Child with Autosomal Dominant Hypophosphatemic Rickets Caused by a FGF23 Mutation.

摘要

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.