re: FRANTIC! -PLEASE HELP!
Jun. 18th, 2003   4:14pm

Don’t be frantic!!  Phenotype does not always match genotype in CAH.  This means that you can have mutations associated with non-saltwasting CAH, but present more like a salt-waster.  And vice versa.

Regardless of what mutations your son carries, if he had elevated potassium levels, your doctor was probably right to diagnose him as a salt-waster.  Treatment is based on symptoms and lab results, not what the genetics report says. 

I’m sure there are other conditions that can cause high potassium levels, but---assuming your son also had elevated 17-ohp (and possibly high renin and low sodium, to go with the elevated potassium)---it seems pretty certain that this is CAH, not anything else.  Especially since you also have confirmation of CAH genes, as icing on the cake. 

 

 

Carol M.
Rare Disease Search Engine, Homeschool Sites, Online Homeschool, Online Income, Ethical Adsense, Creative writing, Family Web Hosting, Christian Radio, Tulsa Parks