Bartter s syndrome

Bartter s syndrome is caused by mutations in the basolateral chloride channel (CIC-Kb), an exit pathway for cellular Cl. 

Renal diseases Mutations in KCNJ1 disiupt the function of Kirl.l in apical renal outer medulla of the kidney. The loss of tubular K+ channel function and impaired K+ flux could prevent apical membrane potassium recycling and lead to antenatal Bartter s syndrome. 

Bartter s Syndrome Basal Activity Basal Ganglia Basement Membrane Basophils Bax... 

Targeting of nonsteroidal anti-inflammatory drugs (NSAIDs) such as naproxen could be of interest for the treatment of proteinuria and tubular defects such as Fanconi syndrome and Bartter s syndrome [73,74]. Although a conjugate with an ester spacer is preferred to a conjugate with a direct peptide hnkage [66,67], we continued our research using naproxen di-... 

Increased biosynthesis of prostaglandins has been associated with one form of Bartter s syndrome. This is a rare disease characterized by low-to-normal blood pressure, decreased sensitivity to angiotensin, hyperreninemia, hyperaldosteronism, and... 

Watanabe S, Fukumoto S, Chang H, Takeuchi Y, Hasegawa Y, Okazaki R, Chikatsu N, Fujita T. 2002. Association between activating mutations of calcium-sensing receptor and Bartter s syndrome. Lancet 360 692 1. 

Caution in hypocalcemia, hypokalemia, metabolic alkalosis, respiratory alkalosis, Bartter s syndrome (powder for oral suspension contains 1,680 mg or 20 mEq of sodium bicarbonate)... 

Lopez Jimenez M, Barbado FJ, Mateos F, Pena JM, Gil A, Arnalich F, Tovar I, Alonso FG, Vazquez Rodriguez JJ. Sindrome de Bartter factitio inducido por la ingestion subrepticia de diureticos. [Factitious Bartter s syndrome induced by the surreptitious ingestion of diuretics.] Med Clin (Bare) 1985 84(l) 23-6. 

Hyperkalemia has been reported in patients with preexisting renal disease treated with indometacin (SEDA-4, 65) (SEDA-5, 90) (SEDA-6, 93) and in a patient with Bartter s syndrome receiving concomitant oral potassium chloride (SEDA-11, 92) (17). Indometacin caused a high serum potassium concentration in a young athlete (SEDA-14, 93). 

Larizza D, Colombo A, Lorini R, Sever F. Ketoprofen causing pseudotumor cerebri in Bartter s syndrome. N Engl J Med 1979 300(14) 796. 

Habitual, usually secretive, abuse of laxatives is much more common in women than in men and there is overlap with the anorectic/bulimic sjmdrome. Abuse of irritant agents such as senna and cascara have been the commonest varieties (SED-10, 704), but many proprietary laxatives have been abused. Abuse can lead to a condition characterized by chronic diarrhea, hjq)okalemia, and fluid depletion. The features also include hjq)omagnesemia, hjq)ocalcemia, and hjq)oalbuminemia, with thirst, lassitude, weight loss, edema, and occasionally osteomalacic bone pain and clubbing. In one small series of cases of laxative abusers, pseudo-Bartter s syndrome was induced the com-phcations included confusion, convulsions, muscle weakness (with or without paralysis or rhabdomyolysis), and... 

Meyers AM, Feldman C, Sonnekus MI, Ninin DT, MargoUus LP, WhaUey NA. Chronic laxative abusers with pseudo-idiopathic oedema and autonomous pseudo-Bartter s syndrome. A spectrum of metabolic madness, or new lights on an old disease S Afr Med J 1990 78(11) 631-6. 

Renal magnesium wasting is the main mechanism responsible for the hypomagnesemia associated with cisplatin (172), and it can be associated with enhanced tubular reabsorption of calcium and consequent hypocalciuria (173). This dissociation in the renal handling of calcium and magnesium is similar to what is found in Bartter s syndrome. The site of the renal tubular defect in these conditions is not known, but there is evidence that active renal tubular transport systems are disrupted. 

Distribution of the COX-2 isoform in the adult human kidney is based upon in-situ hybridization and immunolocation studies [11]. COX-2 has been detected in both the macula densa and medullary interstitial cells in patients with Bartter s syndrome and congestive heart failure [22] as well as in elderly patients. COX-1, in addition to being expressed in the glomerulus, is constitutively expressed in both the cortical and medullary collecting ducts [15,16] (Figure 2). The exact role of the duel expression of both COX isoforms in the medullary collecting duct remains to be elucidated. 

Abnormal values of fractional lithium excrehon have been reported in a variety of condihons. In hyperthyroidism and Bartter s syndrome frachonal lithium clearance is increased. After unilateral nephrectomy, lithium clearance by the remaining kidney increases. After two weeks, frachonal lithium clearance returns to normal. Rombola et al. [8] reported markedly increased frachonal lithium clearance values in pahents with Fan-coni syndrome, renal glycosuria, and hypercalciuria. 

The milder ( classic, type III) Bartter s syndrome is due to defects in tire basolateral pump CLC-Kb. Although the phenotype is extremely variable (neonatal, life-threatening presentations do occur), these patients typically present in the first year of hfe with weakness and hypovolemia and normal urinary calcium excretion. Nephrocalcinosis and kidney stone formation are not normally features. 

Primary adrenal adenoma (Cushing s syndrome) Pituitary adenoma secreting ACTH (Cushing s disease) Exogenous cortisol therapy Excessive licorice ingestion Bartter s syndrome (defective renal CL reabsorption)... 

This condition is far less common than chloride responsive metabolic alkalosis and is almost always associated with either an underlying disease (primary hyperaldosteronism, Cushing s syndrome, or Bartter s syndrome) or with excess addition of exogenous base. In these conditions, urine CL will usually be >20 mmol/L. 

Finally a rare etiology of CL resistant metabolic alkalosis is a genetic (autosomal recessive) defect in CL reabsorption within the thick ascending limb of the loop of Henle, a condition known as Bartter s syndrome. ... 

White MG. Bartter s syndrome A manifestation of renal tubular defects. Arch Intern Med 1972 129 41-7,... 

In this section, I list diseases and conditions known to cause or accompany magnesium deficiency. My purpose is to show you that one disease can cause others by creating deficiencies that open up a person to other diseases.The following conditions are known to contribute to magnesium deficiency Bartter s syndrome bile insufficiency celiac disease bowel infections vomiting diarrhea alcoholism diabetes high levels of diuretics, vitamin D, or zinc hyperthyroidism metabolic disorders hormone disorders fat metabolism problems colostomy and kidney dysfunctions. 

Excess mineralocorticoid activity Hyperaldosteronism Cushing s syndrome Bartter s syndrome Gitelman s syndrome Excessive black licorice intake Profound potassium depletion Magnesium deficiency Liddle s syndrome Unclassified Alkali administration Milk-alkali syndrome... 

Hene RJ, Koomans HA, Dorhout Mees EJ, et al. Correction of hypokalemia in Bartter s syndrome by enalapril. Am J Kidney Dis 1987 9 200-205. 

Vinci JM, Gill JR Jr, Bowden RE, et al. The kallikrein-kinin system in Bartter s syndrome andits response to prostaglandin synthetase inhibition. J Clin Invest 1987 61 1671-1682. 

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