Bartter's syndrome. Liddle's Gitelman's syndrome. (Chloride channel) Bartter's syndrome. [9] Gitelman's syndrome. Gitelman's Bartter's

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1 Bartter's syndrome [5] Gitelman's Bartter's Liddle's Gitelman's syndrome Glucocorticoid remediable aldosteronism ( [2] ) Apparent mineralocorticoid excess (AME) (congenital adrenal hyperplasia CYP11B1 CYP17 ) [6] [7] 50 80% Bartter's syndrome Gitelman's syndrome (Chloride channel) thiazide-sensitive Na-Cl cotransporter Bartter's syndrome Bartter's syndrome [8] (hyperreninemia) (hyperaldosteronism) (prostaglandin) Bartter's Juxtaglomerular apparatus syndrome [1] [1,2] [9] Gitelman's syndrome (medullary thick ascending limb of the loop of Henle) [2] loop diuretics thiazide diuretic Bart- [10] renin-angiotensin-aldosterone system [3] ter's Gitelman's Na-K-2Cl cotransporter Loop diuretic (Potassium channel) 20 meq/l [4]

2 Liddle's syndrome Liddle's syndrome Bartter's syndrome Gitelman's GRA (hemorrhagic Liddle's syndrome stroke) 18% 70% (mineralocorticoid) 61% 32 GRA (MRA) Na channel Na [15] ( z o n a Liddle's syndrome triad glomerulosa) 17-hydroxylase cortisol (zona fasciculate) corticosterone 18-carbon syndrome Apparent mineralocorticoid excess (AME lico- 40 meq/l rice ingestion) DOC (deoxycorticoid)-producing Bartter's syndrome Gitelman's syndrome spironolactone [12] (NSAID) (spironolactone amiloride) mg/day spironolactone amiloride GRA ( ) Na channel (ACE) angiotensin II aldosterone [11] (familial hyperaldosteronism type 1) (primary Bartter's syndrome hyperaldosteronism) (adrenal adenoma) (medullary thick ascending limb of the loop of Henle) Na-K-2Cl cotransporter (aldosterone) GRA amiloride ACEI ACTH ACTH Liddle's syndrome (Congenital Adrenal Hyperplasia) Amiloride triamterene Na channels Glucocorticorid-remediable aldosteronism (GRA) [13,14] thiazide [14]

3 11-beta-hydroxylase (isoenzymes) 11β -HSD spironolactone cortisol dexamethasone CYP11B2 (aldosterone synthase) ACTH cortisol deoxycortocosterone corticosterone 18-hydroxycorticosterone (nephrocalcinosis) thiazide isozyme CYP11B1 11-deoxycortisol cortisol GRA CYP11B1 promotor region CYP11B2 coding sequences (ACTH) corticosterone cortisol precursors 18-oxocortisol 18- hydroxycortisol [13,15] [21] [14] cortisol Dexamethasone suppression test cortisol 18-carbon oxida- (androgenic hormone) deoxy- tion 18-hydroxylcortisol 18-oxocortisol corticosterone [13] CYP11B1 (11-betahydroxylase) CYP17 (17-alpha-hydroxylase) (chimeric gene) [16] [17] CYP11B1 dexamethasone 5 8% [22] prednisolone [23] [18] (renin-angiotensin system) 8 chromosone 8q21-q22 Apparent mineralocorticoid excess (AME) Apparent mineralocorticoid excess (AME) deoxycorticos- [19] terone 11β -hydroxysteroid dehydrogenase (11β - AME (congenital adrenal hyperplasia) cortisol (late onset) HSD) 11β -HSD cortisol cortisone cortisol CYP11B1 CYP21A2 (21-hydroxylase deficiency)

4 CYP17 deoxycortisol deoxycorticosterone (DOC) (androgens) hydroxylase progesterone cortisol deoxycortisol deoxycorticosterone lyase 11-deoxycortisol ACTH 11-deoxysteroids 17-ketoster- estrogenic C18 oids steroids 17-hydroxylase cortisol tetra-hydro deoxycorticosterone 18-hydroxy- deoxycortisol 11-deoxdeoxycorticosterone ycortisol (glucocorticoid) (aeromatized) CYP17 11-deoxycorticosterone Hydrocortisone mg dexamethasone hydroxylase mg cortisol 11-deoxycortisol 17-alpha- hydrocortisone hydroxyprogesterone lyase dehydroepiandrosterone (DHEA) dehydroepiandrosterone (DHEA sulfate) androstenedione 11-deoxycortisol DOC testosterone and estradiol 11-deoxycorticosterone corticosterone spironolactone amiloride [22] 11-deoxycorticosterone renin-angiotensin-aldos- CYP terone axis [24] 35 cortisol pregnanetriol corticosterone deoxycorticosterone 17-hydroxylase lyase lyase CYP17 (DOC) (male pseudohermaphroditism) CYP17 ( 1)

5 1. Gitelman's Bartter's Liddle's GRA AME 11-betahydroxylase deficiency 17-alphahydroxylase deficiency thiazide (low Uosm) loop diuretics amphotericin B mineralocorti- dexamethasone aldos- coids terone cortisol C-18 licorice cortisone to cortisol cortisol deoxycorticosterone (DOC) 11-deoxycortisol deoxycorticosterone (DOC) corticosterone 1. Stein JH: The pathogenetic spectrum of Bartter's syndrome. Kidney Int 1985; Bettinelli A, Bianchetti MG, Girardin E, et al: Use of calcium excretion values to distinguish two forms of primary renal tubular hypokalemic alkalosis: Bartter and Gitelman syndrome. J Pediatr 1992; 120: Jamison RL, Ross JC, Kempson RL, et al: Surreptitious diuretic ingestion and pseudo-bartter's syndrome. Am J Med 1982; 73: Gamba G: Molecular biology of distal nephron sodium transport mechanisms. Kidney Int 1999; 56: Zelikovic I: Hypokalaemic salt-losing tubulopathies: An evolving story. Nephrol Dial Transplant 2003; 18: Monnens L, Bindels R, Grunfeld JP: Gitelman syndrome comes of age (editorial). Nephrol Dial Transplant 1998; 13: Cruz DN, Simon DB, Nelson-Williams C, et al: Mutations in the Na-Cl cotransporter reduce blood pressure in humans. Hypertension 2001; 37: Simon DB, Nelson-Williams C, Bia MJ, et al: Gitelman's variant of Bartter's syndrome, inherited hypokalemic alkalosis, is caused by mutations in the thiazide-sensitive sodiumchloride cotransporter. Nat Genet 1996; 12: Gill JR, Bartter FC: Evidence for a prostaglandin-independent defect in chloride reabsorption in the loop of Henle as a proximal cause of Bartter's syndrome. Am J Med 1978; 65: Patak RV, Fadem SZ, Rosenblatt SG, et al: Diuretic-induced changes in renal blood flow and prostaglandin E excretion in the dog. Am J Physiol 1979; 236: F Hene RJ, Koomans HA, Dorhout Mees EJ, et al: Correction of hypokalemia in Bartter's syndrome by enalapril. Am J Kidney Dis 1987; 9: Botero-Velez M, Curtis JJ, Warnock DG: Brief report: Liddle's syndrome revisited: A disorder of sodium reabsorption in the distal tubule. N Engl J Med 1994; 330: Rich GM, Ulick S, Cook S, et al: Glucocorticoid-remediable aldosteronism in a large kindred: Clinical spectrum and diagnosis using a characteristic biochemical phenotype. Ann Intern Med 1992; 116: Litchfield WR, Coolidge C, Silva P, et al: Impaired potassiumstimulated aldosterone production: A possible explanation for normokalemic glucocorticoid-remediable aldosteronism. J Clin Endocrinol Metab 1997; 82: Litchfield WR, Anderson BF, Weiss RJ, et al: Intracranial aneurysm and hemorrhagic stroke in glucocorticoid-remediable aldosteronism. Hypertension 1998; 31: Jamieson A, Inglis GC, Campbell M, et al: Rapid diagnosis of glucocorticoid suppressibe hyperaldosteronism in infants and adolescents. Arch Dis Child 1994; 71: Dluhy RG, Anderson B, Harlin B, et al: Glucocorticoid-reme

6 diable aldosteronism is associated with severe hypertension in early childhood. J Pediatr 2001; 138: Stowasser M, Bachmann AW, Huggard PR, et al: Treatment of familial hyperaldosteronism type I: only partial suppression of adrenocorticotropin required to correct hypertension. J Clin Endocrinol Metab 2000; 85: Lavery GG, Ronconi V, Draper N, Rabbitt EH: Late-onset apparent mineralocorticoid excess caused by novel compound heterozygous mutations in the HSD11B2 gene. Hypertension 2003; 42: White PC, Mune T, Agarwal AK: 11- ß hydroxysteroid dehydrogenase and the syndrome of apparent mineralocorticoid excess. Endocr Rev 1997; 18: White PC, New MI, Dupont B: Congenital adrenal hyperplasia. N Engl J Med 1987; 316: White PC, Curnow KM, Pascoe L: Disorders of steroid 11- beta-hydroxylase isozymes. Endocr Rev 1994; 15: Ruler A, Leiberman E, Cohen T: High frequency of congenital adrenal hyperplasia (classic 11-beta-hydroxylase deficiency) among Jews from Morocco. Am J Med Genet 1992; 42: Biglieri EG: 17-alpha-hydroxylase deficiency: J Clin Endocrinol Metab 1997; 82:

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