Disease Information for Bartter's syndrome: Definition

Ads
  • Hypertrophy and hyperplasia of the juxtaglomerular cells, producing hypokalemic alkalosis and hyperaldosteronism, characterized by absence of hypertension in the presence of markedly increased plasma renin concentrations, and by insensitivity to the pressor effects of angiotensin; It usually affects children, is perhaps hereditary, and may be associated with other anomalies, such as mental retardation and short stature; It is also called juxtaglomerular cell aplasia---------(Dorland, 27th ed)---------------

    Bartter"s Syndrome; Aldosteronism With Normal Blood Pressure; Hyperaldosteronism With Hypokalemic Alkalosis;

    Hyperaldosteronism Without Hypertension; Hypokalemic Alkalosis with Hypercalciuria; Juxtaglomerular Hyperplasia

    Bartter"s Syndrome, also known as is hypokalemic alkalosis with hypercalciuria, is a rare inherited disorder characterized by growth deficiency, potentially resulting in short stature; muscle weakness; cramps; and/or loss of potassium from the kidneys (renal potassium wasting); In some cases, affected individuals may exhibit mental retardation; Individuals with Bartter"s Syndrome have a disturbance in their acid-base ratio (ie, an accumulation of base or loss of acid) associated with a loss of potassium (hypokalemic alkalosis); Low amounts of potassium may result from overproduction of a certain hormone (aldosterone) that is essential in controlling blood pressure and regulating sodium and potassium levels (hyperaldosteronism); The exact cause of Bartter"s Syndrome is not known; in some cases, it may be inherited as an autosomal recessive genetic trait

    ---------[NORD 2005]--------------------------

    (Edit)

Ads