Inherited forms of mineralocorticoid hypertension.
Best Pract Res Clin Endocrinol Metab
; 29(4): 633-45, 2015 Aug.
Article
in En
| MEDLINE
| ID: mdl-26303089
ABSTRACT
Aldosterone plays an essential role in the maintenance of fluid and electrolyte homeostasis in the distal nephron. Monogenic forms of mineralocorticoid hypertension result from genetic defects leading to excessive production of aldosterone (or other mineralocorticoids) from the adrenal cortex or to illegitimate mineralocorticoid effects in the kidney. They are characterized in the majority of cases by early onset, severe or resistant hypertension and associated with suppressed renin levels. Depending on their causes, these diseases are distinguished at the clinical and biochemical level and differently affect aldosterone levels and kalemia. The diagnosis is confirmed by genetic testing, which allows in many cases targeted treatment to prevent severe cardiovascular consequences of high blood pressure or aldosterone excess. In this review we describe the different forms of inherited mineralocorticoid hypertension, providing an overview of their clinical and biochemical features, their underlying genetic defects and specific therapeutic options.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Mineralocorticoid Excess Syndrome, Apparent
/
Liddle Syndrome
/
Hyperaldosteronism
/
Hypertension
Type of study:
Diagnostic_studies
Limits:
Humans
Language:
En
Journal:
Best Pract Res Clin Endocrinol Metab
Journal subject:
ENDOCRINOLOGIA
/
METABOLISMO
Year:
2015
Document type:
Article