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re: locah, svcah, swcah ...where're the smart folk ? Jul. 7th, 2008 8:27am
Interesting Aimee!
Have you ever had plasma renin levels taken? An elevated level, even elevated by a small amount, means that the renin-angiotensin system is working harder to retain salt. However for people with the rarer 11-beta hydroxylase CAH there is an accumulation of 11-deoxycorticosterone (DOC) which is a mineralocorticoid and this instead causes sodium retention rather than salt loss (which happens in 21-hydroxylase deficiency the most common form of CAH). Consequently people with 11-hydroxylase deficiency may be more likely to have hypertension (elevated blood pressure) and low plasma renin activity.....so it beats me why you would have these salt cravings!! ;-)
Hi Jess, it would be good if you could locate your genetic tests, considering your propensity for dehydration. There is sometimes quite a lot of misunderstanding by doctors about late onset - LOCAH and SV. In LOCAH, the general consensus is, that you would have either one or two locah (non-classical) genes and your diagnostic 17-ohp levels would be below 10,000ng/dL (300 nmol/L). In SV you would have two classical mutations and a diagnostic 17-ohp greater than 10,000ng/dL (>300 nmol/L), as well as, often having disturbances to the renin level.