X-linked hypophosphatemic rickets associated with respiratory failure

Andrea Balazs; George Jeha; Sheila K Gunn; Lefkothea P Karaviti

doi:10.1177/0009922807308174

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.

Authors

Andrea Balazs¹, George Jeha, Sheila K Gunn, Lefkothea P Karaviti

Affiliation

¹ Department of Pediatric Endocrinology and Metabolism, Texas Children's Hospital, Baylor College of Medicine, Houston, Texas 77030, USA. aebalazs@texaschildrenshospital.org

PMID: 18057152
DOI: 10.1177/0009922807308174

Abstract

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*

Substances

Phosphates
PHEX Phosphate Regulating Neutral Endopeptidase
PHEX protein, human