|
Correction
to
Nabel,
|
| |||||||||||||||||||||||||||||||||||||||||
-hydroxylase, but in fact, mutations in this gene cause one form of congenital adrenal hyperplasia.2 Apparent mineralocorticoid excess is caused by inactivating mutations in the gene encoding 11-hydroxysteroid dehydrogenase type 2,3 the microsomal enzyme that metabolizes cortisol into its receptor-inactive keto form, cortisone, in sodium-transporting epithelia, such as the kidney, and thus protects the nonselective mineralocorticoid receptor from occupation by cortisol itself. In the same table, apparent mineralocorticoid excess is said to be associated with an absence of circulating aldosterone and decreased plasma volume, but in fact, plasma volume is expanded, as in states involving true mineralocorticoid excess, because of sodium retention induced by the unopposed activation of the aldosterone receptor by cortisol. As a very rare condition, apparent mineralocorticoid excess may not be an attractive object of study for most physicians. However, as a natural model of the more common condition of hypertension due to licorice abuse,3 it can help us to understand some basic mechanisms of disease.
Giacomo Colussi, M.D.
A.O. Ospedale di Circolo e Fondazione Macchi
21100 Varese, Italy
giacomo.colussi{at}ospedale.varese.it
References
Because of the ease and accessibility of testing for many of these polymorphisms, I have seen more widespread, indiscriminate genetic screening, performed without regard to the underlying disease process itself or to the modification of risk factors. A classic example is a young woman who was referred to me with premature atherosclerotic vascular disease because she was found to have factor V Leiden but who continues to smoke two packs of cigarettes a day.
Scott W. Hall, M.D., Ph.D.
Christiana Care Hospital
Newark, DE 19713
shall{at}dclp.com
References
Dr. Colussi is correct in stating that apparent mineralocorticoid excess results from a mutation in the gene encoding 11-hydroxysteroid dehydrogenase. In Table 2 of my article, the description of the mutation associated with apparent mineralocorticoid excess should have read, "Mutation in the gene encoding 11-hydroxysteroid dehydrogenase," and the description of the molecular mechanism should have read, "Cortisol-mediated activation of the mineralocorticoid receptor; sodium retention; plasma volume."
Elizabeth G. Nabel, M.D.
National Institutes of Health
Bethesda, MD 20892
| |||||||||||||||||||||||||||||||||||||||||
HOME | SUBSCRIBE | SEARCH | CURRENT ISSUE | PAST ISSUES | COLLECTIONS | PRIVACY | TERMS OF USE | HELP | beta.nejm.org Comments and questions? Please contact us. The New England Journal of Medicine is owned, published, and copyrighted © 2009 Massachusetts Medical Society. All rights reserved. |
Previous
