Biomaterial Database

X-linked hypophosphatemic rickets associated with respiratory failure. 2008

Andrea Balazs, and George Jeha, and Sheila K Gunn, and Lefkothea P Karaviti

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

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.

UI	MeSH Term	Description	Entries
D010710	Phosphates	Inorganic salts of phosphoric acid.	Inorganic Phosphate,Phosphates, Inorganic,Inorganic Phosphates,Orthophosphate,Phosphate,Phosphate, Inorganic
D012131	Respiratory Insufficiency	Failure to adequately provide oxygen to cells of the body and to remove excess carbon dioxide from them. (Stedman, 25th ed)	Acute Hypercapnic Respiratory Failure,Acute Hypoxemic Respiratory Failure,Hypercapnic Acute Respiratory Failure,Hypercapnic Respiratory Failure,Hypoxemic Acute Respiratory Failure,Hypoxemic Respiratory Failure,Respiratory Depression,Respiratory Failure,Ventilatory Depression,Depressions, Ventilatory,Failure, Hypercapnic Respiratory,Failure, Hypoxemic Respiratory,Failure, Respiratory,Hypercapnic Respiratory Failures,Hypoxemic Respiratory Failures,Respiratory Failure, Hypercapnic,Respiratory Failure, Hypoxemic,Respiratory Failures
D002675	Child, Preschool	A child between the ages of 2 and 5.	Children, Preschool,Preschool Child,Preschool Children
D005260	Female		Females
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D053098	Familial Hypophosphatemic Rickets	A hereditary disorder characterized by HYPOPHOSPHATEMIA; RICKETS; OSTEOMALACIA; renal defects in phosphate reabsorption and vitamin D metabolism; and growth retardation. Autosomal and X-linked dominant and recessive variants have been reported.	Hypophosphatemic Rickets, X-Linked Dominant,Rickets, X-Linked Hypophosphatemic,Generalized Resistance To 1,25-Dihydroxyvitamin D,Hereditary Hypophosphatemic Rickets,Hereditary Vitamin D-Resistant Rickets,Hypocalcemic Vitamin D-Resistant Rickets,Hypophosphatemia, X-Linked,Hypophosphatemic Rickets, X-Linked Recessive,Rickets, Hereditary Vitamin D-Resistant,Vitamin D-Resistant Rickets With End-Organ Unresponsiveness To 1,25-Dihydroxycholecalciferol,Vitamin D-Resistant Rickets, Hereditary,Vitamin D-Resistant Rickets, X-Linked,X-Linked Hypophosphatemia,Generalized Resistance To 1,25 Dihydroxyvitamin D,Hereditary Vitamin D Resistant Rickets,Hypocalcemic Vitamin D Resistant Rickets,Hypophosphatemia, X Linked,Hypophosphatemic Rickets, Familial,Hypophosphatemic Rickets, Hereditary,Hypophosphatemic Rickets, X Linked Dominant,Hypophosphatemic Rickets, X Linked Recessive,Hypophosphatemic Rickets, X-Linked,Rickets, Familial Hypophosphatemic,Rickets, Hereditary Hypophosphatemic,Rickets, Hereditary Vitamin D Resistant,Vitamin D Resistant Rickets With End Organ Unresponsiveness To 1,25 Dihydroxycholecalciferol,Vitamin D Resistant Rickets, Hereditary,Vitamin D Resistant Rickets, X Linked,X Linked Hypophosphatemia,X-Linked Hypophosphatemic Rickets
D053402	PHEX Phosphate Regulating Neutral Endopeptidase	A membrane-bound metalloendopeptidase that may play a role in the degradation or activation of a variety of PEPTIDE HORMONES and INTERCELLULAR SIGNALING PEPTIDES AND PROTEINS. Genetic mutations that result in loss of function of this protein are a cause of HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT.	PEX Phosphate Regulating Neutral Endopeptidase,Phosphate Regulating Endopeptidase Homolog, X-Linked,Phosphate Regulating Neutral Endopeptidase,X-Linked Phosphate Regulating Endopeptidase Homolog,Phosphate Regulating Endopeptidase Homolog, X Linked,X Linked Phosphate Regulating Endopeptidase Homolog
D040181	Genetic Diseases, X-Linked	Genetic diseases that are linked to gene mutations on the X CHROMOSOME in humans (X CHROMOSOME, HUMAN) or the X CHROMOSOME in other species. Included here are animal models of human X-linked diseases.	X-Linked Genetic Diseases,Genetic Diseases, X-Chromosome Linked,Disease, X-Linked Genetic,Diseases, X-Linked Genetic,Genetic Disease, X-Linked,Genetic Diseases, X Chromosome Linked,Genetic Diseases, X Linked,X Linked Genetic Diseases,X-Linked Genetic Disease