doiSerbia

X-linked hypophosphatemic rickets: Case report

Radlović Vladimir (University Children’s Hospital, Belgrade)
Smoljanić Željko (University Children’s Hospital, Belgrade)
Radlović Nedeljko (University Children’s Hospital, Belgrade + Faculty of Medicine, Belgrade)
Leković Zoran (University Children’s Hospital, Belgrade)
Ristić Dragana (University Children’s Hospital, Belgrade)
Dučić Siniša (University Children’s Hospital, Belgrade)
Pavićević Polina (University Children’s Hospital, Belgrade)

Introduction. X-linked hypophosphatemic rickets (XLHR) is a dominant inherited disease caused by isolated renal phosphate wasting and impairment of vitamin D activation. We present a girl with X-linked hypophosphatemic rickets (XLHR) as a consequence of de novo mutation in the PHEX gene. Case Outline. A 2.2-year-old girl presented with prominent lower limb rachitic deformity, waddling gait and disproportionate short stature (79 cm, A (p.G579R) (exon 17), XLHR was diagnosed. Analysis of the parental PHEX gene did not show the abnormality, which indicated that the child’s XLHR was caused by de novo mutation of this gene. Conclusion. Identification of genetic defects is exceptionally significant for diagnosis and differential diagnosis of hereditary HR.

Keywords: X-linked hypophosphatemic rickets, diagnostics, therapy