Primary care
Recommendation 1
Long term use of fludrocortisone
18 Hydroxylase deficiency
Not yet reviewedThis information is AI generated and has not yet been reviewed by a specialist physician. AI can make mistakes.
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
ZebraMD is partnering with Ambry Genetics for clinical-grade whole genome testing for rare diseases. Ambry accepts insurance. If you don’t have a physician to order this test, join our referral list and our team will reach out.
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
Clinical Trials
Sources
No data available
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