11 beta hydroxysteroid dehydrogenase type 2 deficiency
11 beta hydroxysteroid dehydrogenase type 2 deficiency Definition
11Beta-hydroxysteroid dehydrogenase type 2 deficiency also known as (11beta-HSD2) is one of the most common causes of retention of sodium and serious cases of hypertension. This happens when glucocorticoids are admitted to the mineralocorticosteroid receptors which are non-selective.
11 beta hydroxysteroid dehydrogenase type 2 deficiency Function
It is also important to comprehend the role of the 11 beta-hydroxysteroid dehydrogenase type 2 when it comes to regulating a person?s blood pressure. This will be an aid in understanding what would happen when there is a deficiency of this enzyme. This enzyme actually inactivates 11-hydroxy steroids found in the kidneys. This action helps in protecting the mineralocorticoid receptor (which is a non-selective receptor) from being occupied by the glucocorticoids. This gene can be found in human thyroid, pancreas and placenta. Gene mutations could result into the hypertensive syndrome known as AME or apparent mineralocorticoid excess. When this type of hypertension occurs, the results are usually renal retention of sodium, hypertension that is salt-dependent and also hypokalemia.
11 beta hydroxysteroid dehydrogenase type 2 deficiency Manifestations of the Disease
In 1974, the first case of hypertension due to 11 beta-hydroxysteroid dehydrogenase type 2 deficiency was first reported by Werder and some of his colleagues. The type of hypertension that was then observed was characterized as juvenile, had low-aldosterone and low-renin. Aside from hypertension, other symptoms include hypokalemia; polyuria; very low, abnormal birth weight; some cases of still birth; polydipsia; nephrocalcinosis; renal disease; and hypoaldosteronemia. Hypertension caused by the deficiency of 11 beta-hydroxysteroid dehydrogenase type 2 enzyme could range from the grave disease is often diagnosed among children to the milder case usually diagnosed among adults (this comprises about 20-30% of reported cases). Over the years, there have been cases of hypertension which have been reported to have affected renal transport of sodium. These cases are known as monogenic hypertension cases. Although hypertension is commonly associated with the deficiency of this enzyme, the fact that it really causes this illness has yet to be established. There are evidences here and there that point to the deficiency as a reason for hypertension but none have been recognized as scientific fact.
11 beta hydroxysteroid dehydrogenase type 2 deficiency Race
It has been observed that among African-Americans, the leading cause of end-phase renal disease is hypertension with low-renin (a type of hypertension that is salt-dependent). It is believed that the deficiency is highly prevalent among the black population.
11 beta hydroxysteroid dehydrogenase type 2 deficiency Treatment
To properly prescribe a specific treatment or therapy to patients that are deficient in 11 beta-hydroxysteroid dehydrogenase type 2 genes, it is important that AME diagnosis be done accurately.