salt-wasting CAH

GPTKB entity

Statements (26)
Predicate Object
gptkbp:instanceOf medical condition
form of congenital adrenal hyperplasia
gptkbp:associatedWith gptkb:CYP21A2
gptkbp:causedBy gptkb:21-hydroxylase_deficiency
gptkbp:characterizedBy excess androgen production
impaired aldosterone production
impaired cortisol production
gptkbp:complication shock
death if untreated
adrenal crisis
gptkbp:diagnosedBy newborn screening
serum 17-hydroxyprogesterone measurement
https://www.w3.org/2000/01/rdf-schema#label salt-wasting CAH
gptkbp:prevalence most common form of classic CAH
gptkbp:riskFactor autosomal recessive inheritance
gptkbp:symptom vomiting
dehydration
failure to thrive
hypotension
hyponatremia
hyperkalemia
gptkbp:treatment glucocorticoid replacement
mineralocorticoid replacement
salt supplementation
gptkbp:bfsParent gptkb:congenital_adrenal_hyperplasia
gptkbp:bfsLayer 6