Congenital adrenal hyperplasia is a common disease that can cause lifelong disorders and even death. (CAH) is a genetic disease of the adrenal glands, a pair of walnut-sized organs located near the kidney, The disease is caused by defects in the genes that code for several important enzymes required for the synthesis of the adrenal cortex hormones: a block "so to speak" in the production and manufacture of the "stress" hormone, cortisol and the salt retaining hormone Aldosterone.. Cortisol is essential for life and helps regulate body energy, sugar levels, blood pressure and response to physical stress (such as illness or injury). In CAH, the adrenal glands work hard trying to make the hormones they are unable to make (cortisol and aldosterone), and therefore wind up making too much of what they can make,.. androgens.
Specifically, CAH results in 3 disturbances:
Lack of Cortisol , Lack of Aldosterone , Too much Androgen
Jacobs CAH = 3-Beta HSD deficiency = Salt Loser
In salt-losers, the enzyme deficiency in the adrenal gland is more severe than in non-salt-losers. Their strong tendency to lose excessive amounts of salt in the urine, if uncontrolled, can cause acute dehydration, very low blood pressure, nausea, and vomiting. The levels of salt and sugar in the blood fall, while potassium levels rise. This dangerous situation is referred to as an "Adrenal Crisis". Very urgent medical treatment is needed as a life-saving measure. Some patients with the salt-losing form of CAH receive very little warning of adrenal crisis. Repetitive vomiting is often the first sign, as blood sugar levels drop if not replaced quickly enough, it will progress to loss of consciousness.
A child affected with CAH can go into shock from infection, injury, or surgery. Extra doses of hydrocortisone are important at these times. During illness, the dose of synthetic cortisol (hydrocortisone) is doubled or tripled. However if the child is not able to take the medications by mouth due to vomiting or severe diarrhea, it should be given by injection of hydrocortisone into a muscle.
To date Jacob has only had one situation in his 4 years of life where he has had to receive an injection, and iv rehydration techniques, It was brought on by the flu. As Jacob continues to grow his dependency for medication will continue to change, thus making it very important to keep bloodwork levels current and visits with the Endocrinologist frequent. |
