Bartter syndrome


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Bartter syndrome

 [bahr´ter]
hypertrophy and hyperplasia of the juxtaglomerular cells of the kidney, producing hypokalemic alkalosis and hyperaldosteronism, characterized by absence of hypertension in the presence of markedly increased plasma renin concentration and by insensitivity to the pressor effects of angiotensin. It usually affects children and is perhaps hereditary.

Bart·ter syn·drome

(bar'tĕr), [MIM*241200]
a renal disorder due to a defect in active chloride reabsorption in the loop of Henle; characterized by primary juxtaglomerular cell hyperplasia with secondary hyperaldosteronism, hypokalemic alkalosis, hypercalciuria, elevated renin or angiotensin levels, normal or low blood pressure, and growth retardation; edema is absent. Autosomal recessive inheritance, caused by mutation in either the Na-K-2Cl cotransporter gene (SLC12A1) on chromosome 15q or the K(+) channel gene (KCNJ1) on 11q.

Bartter syndrome

A rare disorder of early onset, which may be seen in dwarfism; it is characterised by potassium-wasting, normotensive hyperreninaemia, hyperaldosteronism, and vascular hyporesponsiveness to endogenous pressors (e.g., norepinephrine, angiotensin II) attributed to increased prostaglandin E.
 
Clinical findings
Proximal muscle weakness, failure to thrive, short stature, convulsions, tetany, cramps, ileus, gout, mental retardation, enuresis, nocturia, polyuria, salt craving, constipation, insensitivity to angiotensin II  pressor effects, normal blood pressure.
 
Lab
Metabolic alkalosis, decreased serum K+, increased urine K+, increased renin, increased aldosterone.

DiffDx
Prolonged nasogastric suctioning, habitual vomiting, diuretic abuse.
 
Management
Potassium loading, spironolactone to block aldosterone effects.
 
Prognosis
If recognised early and treated aggressively, children with Bartter syndrome can achieve near-normal growth and intellectual development.

Bartter syndrome

Endocrinology A rare endocrinopathy, usually of younger Pts, and may be seen in dwarfism; it is characterized by potassium-wasting, normotensive hyperreninemia, hyperaldosteronism, and vascular hyporesponsiveness to endogenous pressors–eg, norepinephrine, angiotensin II–attributed to ↑ PGE Clinical Proximal muscle weakness, failure to thrive, short stature, convulsions, tetany, cramps, ileus, gout, mental retardation, enuresis, nocturia, polyuria, salt craving, constipation, insensitivity to angiotensin II  pressor effects, normal BP Lab Metabolic alkalosis, ↓ serum K+, ↑ urine K+, ↑ renin, ↑ aldosterone, DiffDx Prolonged nasogastric suctioning, habitual vomiting, diuretic abuse Management Potassium loading, spironolactone to block aldosterone effects.

Bart·ter syn·drome

(bahr'tĕr sin'drōm)
A disorder due to a defect in active chloride reabsorption in the loop of Henle; characterized by primary juxtaglomerular cell hyperplasia with secondary hyperaldosteronism, hypokalemic alkalosis, hypercalciuria, elevated renin or angiotensin levels, normal or low blood pressure, and growth retardation; edema is absent. Autosomal recessive inheritance, caused by mutation in either the Na-K-2Cl cotransporter gene (SLC12A1) on chromosome 15q or the K(+) channel gene (KCNJ1) on 11q.

Bartter,

Frederic Crosby, U.S. physician, 1914-1983.
Bartter syndrome - primary juxtaglomerular cell hyperplasia with secondary hyperaldosteronism, reported in children with hypokalemic alkalosis and elevated renin or angiotensin levels.
Schartz-Bartter syndrome - see under Schwartz, William