X-linked hypophosphatemic rickets associated with respiratory failure.
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.
Balazs
Andrea
A
Department of Pediatric Endocrinology and Metabolism, Texas Children's Hospital, Baylor College of Medicine, Houston, Texas 77030, USA. aebalazs@texaschildrenshospital.org
Jeha
George
G
Gunn
Sheila K
SK
Karaviti
Lefkothea P
LP
D002675:Child, Preschool; D053098:Familial Hypophosphatemic Rickets / Q000150:complications* / Q000235:genetics*; D005260:Female; D040181:Genetic Diseases, X-Linked / Q000150:complications* / Q000175:diagnosis; D006801:Humans; D053402:PHEX Phosphate Regulating Neutral Endopeptidase / Q000235:genetics; D010710:Phosphates / Q000627:therapeutic use; D012131:Respiratory Insufficiency / Q000209:etiology*
D010710:Phosphates; D053402:PHEX Phosphate Regulating Neutral Endopeptidase; C506231:PHEX protein, human