PRIMARY CARE
Recommendation 1
Long term use of fludrocortisone
18 Hydroxylase deficiency
Not Verified
Disease overview
Autosomal recessive disorder caused by a defect in biochemical step of aldosterone biosynthesis, the 18-hydroxylation of corticosterone (B) to 18-hydroxycorticosterone (18-OHB).
Common symptoms
This enzymatic defect results in decreased aldosterone and salt-wasting. Ultimately electrolyte abnormalities can lead to nauseavomitingdehydrationlow blood pressureextreme tiredness (fatigue)and muscle weakness. Affected infants often experience failure to thrivewhich means they do not gain weight and grow at the expected rate
WHEN TO SUSPECT
Recommendation 1
Enzyme assy testing for aldosterone
HOW TO TEST
Recommendation 1
Enzyme assy testing for aldosterone
TREATMENT
Recommendation 1
Treated using fludrocortisone
FURTHER SUPPORT
Recommendation 1
No specific physicians specialize in this condition but NORD recommends various rare disease clinics. Referral to Medical Genetics Department, if available. Initial virtual care is also available through organizations like TeleRare Health.
CLINICAL TRIALS
Recommendation 1
One clinical study going on now, register here
Sources
No data available
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