X-linked hypophosphatemic rickets

Abstract

Aim: The aim of this work was the presentation of one case with X-linked hypophosphatemic rickets.

Methods: Diagnosis has been established based on the anamnesis, physical examination, anthropometric measurements, laboratory tests and radiological examination.

Results: A male patient (age 3 years) has been hospitalized due to the growth delay, bone deformity, bone pain and walking difficulties. The laboratory tests have revealed that the calcium value was in the reference range, that of phosphates was low (0.45 mmol/L), the alkaline phosphatase value was quite high (1864 IU/L), the value of parathyroid hormone and of 25- hydroxyvitamin D3 were in the reference ranges, whereas the value of 1,25- dihydroxyvitamin D3 was low. Radiographic changes were evident and typical in the distal metaphysis of radius and ulna as well as in the bones of the lower limbs. After treatment with synthetic analog of vitamin D3--calcitriol and phosphates, the above mentioned laboratory test values and the radiographic changes in bones withdrew.

Conclusion: X- linked hypophosphatemic rickets is a rare disease inherited through X chromosome, and its treatment includes a constant use of calcitriol and phosphates with the aim of avoidance of clinical and laboratory manifestations.