To Anne-Marie, Sandra, and Carol,

I’ve found a pretty good article all about aldosterone problems at:

http://www.endotext.org/adrenal/adrenal24/adrenal24.htm

So it looks like there are two possibilities as far as my son’s condition is concerned:

1.) hypoaldosteronism (HA) where the aldosterone does not get made coming in 2 flavors:

     1a.) corticosterone methyloxidase I (CMO I) deficiency

     1b.) corticosterone methyloxidase II (CMO II) deficiency

     both of these are genetic defects of the CYP11B2 gene on chromosome 8

     (this is related to the CYP11B1 gene which causes 11-Beta hydroxylase deficiency for CAH)

2.) pseudohypoaldosteronism (PHA) where the body’s organs are resistant to aldosterone coming in 3 flavors:

     2a.) Renal PHA type 1 - the mineralocorticoid receptor (MR) is defective (usually in the kidneys).  Inherited autosomal dominant disorder.  The gene that codes for MR is defective.

     2b.) MTOD (multiple target organ defect) PHA type 1 - the sodium channel (ENAC) is defective in multiple organs (kidneys, sweat glands, colon, etc.)  Inherited autosomal recessive disorder.

     2c.) PHA type 2 - hypertension in adolescence.  Inherited autosomal dominant disorder.

It looks like PHA type 2 is ruled out since we’re talking about a baby.  You would think that they could quickly distinguish between HA and PHA by measuring if there’s aldosterone in the blood.  I’m not clear on what autosomal dominant means.  Does this mean that this is a dominant gene?  If so then it must have come from either the father or the mother where it was a dominant gene as well.  Does that mean that either me or my wife must have the disease?