X-linked hypophosphatemic rickets associated with respiratory failure

Clin Pediatr (Phila). 2008 Apr;47(3):293-5. doi: 10.1177/0009922807308174. Epub 2007 Dec 5.


We report a 5-year-old girl who presented to our emergency room with respiratory arrest and limb deformities and was subsequently diagnosed with X-linked hypophosphatemic rickets. On normalization of the serum phosphorus concentration, her respiratory distress resolved, illustrating that untreated X-linked hypophosphatemic rickets can lead to life-threatening respiratory distress.

Publication types

  • Case Reports

MeSH terms

  • Child, Preschool
  • Familial Hypophosphatemic Rickets / complications*
  • Familial Hypophosphatemic Rickets / genetics*
  • Female
  • Genetic Diseases, X-Linked / complications*
  • Genetic Diseases, X-Linked / diagnosis
  • Humans
  • PHEX Phosphate Regulating Neutral Endopeptidase / genetics
  • Phosphates / therapeutic use
  • Respiratory Insufficiency / etiology*


  • Phosphates
  • PHEX Phosphate Regulating Neutral Endopeptidase
  • PHEX protein, human