Familial or genetic primary aldosteronism and gordon syndrome

Endocrinology and Metabolism Clinics of North America

Volumn 40, Issue 2, 2011, Pages 343-368

  Stowasser, Michael ^a   Pimenta, Eduardo ^a   Gordon, Richard D ^a  

^a UNIVERSITY OF QUEENSLAND   (Australia)

Author keywords

Familial; Familial hyperaldosteronism type II; Familial hypertension and hyperkalemia; Genetics; Gordon syndrome; Primary aldosteronism; Pseudohypoaldosteronism type II

Indexed keywords

18 HYDROXYHYDROCORTISONE; 18 OXOHYDROCORTISONE; ALDOSTERONE ANTAGONIST; AMILORIDE; BETA ARRESTIN 1; DEXAMETHASONE; EPLERENONE; GLUCOCORTICOID; LITHIUM; POTASSIUM CHANNEL HERG; PROTEIN KINASE WNK1; PROTEIN KINASE WNK4; SODIUM; SPIRONOLACTONE; THIAZIDE DIURETIC AGENT;

CHROMOSOME 7P; FAMILIAL DISEASE; FAMILIAL HYPERALDOSTERONISM TYPE 1; FAMILIAL HYPERALDOSTERONISM TYPE 2; GENE EXPRESSION; GENE SEQUENCE; GENETIC HETEROGENEITY; GENETIC SCREENING; GORDON SYNDROME; HEREDITY; HUMAN; HYPERALDOSTERONISM; HYPERKALEMIA; HYPERTENSION; ION TRANSPORT; KIDNEY CLEARANCE; KIDNEY TUBULE; LINKAGE ANALYSIS; LOW DRUG DOSE; NONHUMAN; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL; REVIEW; SODIUM ABSORPTION; SODIUM URINE LEVEL;

ANIMALS; ARTHROGRYPOSIS; CLEFT PALATE; CLUBFOOT; DIAGNOSIS, DIFFERENTIAL; DISEASE MODELS, ANIMAL; GENETIC VARIATION; HAND DEFORMITIES, CONGENITAL; HUMANS; HYPERALDOSTERONISM; LITHIUM; METABOLIC CLEARANCE RATE; SODIUM CHLORIDE, DIETARY;

EID: 79955741799     PISSN: 08898529     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ecl.2011.01.007     Document Type: Review

References (148)

1. Conn J.W. The evolution of primary aldosteronism: 1954-1967. Harvey Lect 1966, 62:257-291.
2. Gordon R.D., Klemm S.A., Tunny T.J., et al. Primary aldosteronism: hypertension with a genetic basis. Lancet 1992, 340:159-161.
3. Gordon R.D., Stowasser M., Tunny T.J., et al. High incidence of primary aldosteronism in 199 patients referred with hypertension. Clin Exp Pharmacol Physiol 1994, 21:315-318.
4. Lim P.O., Dow E., Brennan G., et al. High prevalence of primary aldosteronism in the Tayside hypertension clinic population. J Hum Hypertens 2000, 14:311-315.
5. Loh K.C., Koay E.S., Khaw M.C., et al. Prevalence of primary aldosteronism among Asian hypertensive patients in Singapore. J Clin Endocrinol Metab 2000, 85:2854-2859.
6. Mulatero P., Stowasser M., Loh K.C., et al. Increased diagnosis of primary aldosteronism, including surgically correctable forms, in centers from five continents. J Clin Endocrinol Metab 2004, 89:1045-1050.
7. Rossi G.P., Bernini G., Caliumi C., et al. A prospective study of the prevalence of primary aldosteronism in 1,125 hypertensive patients. J Am Coll Cardiol 2006, 48:2293-2300.
8. Young W.F. Primary aldosteronism: update on diagnosis and treatment. Endocrinologist 1997, 7:213-221.
9. Funder J.W., Carey R.M., Fardella C., et al. Case detection, diagnosis, and treatment of patients with primary aldosteronism: an endocrine society clinical practice guideline. J Clin Endocrinol Metab 2008, 93:3266-3281.
10. Stowasser M., Gordon R.D. Primary aldosteronism-careful investigation is essential and rewarding. Mol Cell Endocrinol 2004, 217:33-39.
11. Celen O., O'Brien M.J., Melby J.C., et al. Factors influencing outcome of surgery for primary aldosteronism. Arch Surg 1996, 131:646-650.
12. Rutherford J.C., Taylor W.L., Stowasser M., et al. Success of surgery for primary aldosteronism judged by residual autonomous aldosterone production. World J Surg 1998, 22:1243-1245.
13. Stowasser M., Gordon R.D., Gunasekera T.G., et al. High rate of detection of primary aldosteronism, including surgically treatable forms, after 'non-selective' screening of hypertensive patients. J Hypertens 2003, 21:2149-2157.
14. Sukor N., Kogovsek C., Gordon R.D., et al. Improved quality of life, blood pressure, and biochemical status following unilateral laparoscopic adrenalectomy for unilateral primary aldosteronism. J Clin Endocrinol Metab 2010, 95:1360-1364.
15. Lim P.O., Young W.F., MacDonald T.M. A review of the medical treatment of primary aldosteronism. J Hypertens 2001, 19:353-361.
16. Sukor N., Gordon R.D., Ku Y.K., et al. Role of unilateral adrenalectomy in bilateral primary aldosteronism: a 22-year single center experience. J Clin Endocrinol Metab 2009, 94:2437-2445.
17. Milliez P., Girerd X., Plouin P.F., et al. Evidence for an increased rate of cardiovascular events in patients with primary aldosteronism. J Am Coll Cardiol 2005, 45:1243-1248.
18. Rossi G.P., Bernini G., Desideri G., et al. Renal damage in primary aldosteronism: results of the PAPY Study. Hypertension 2006, 48:232-238.
19. Rossi G.P., Cesari M., Pessina A.C. Left ventricular changes in primary aldosteronism. Am J Hypertens 2003, 16:96-98.
20. Weber K.T., Brilla C.G. Pathological hypertrophy and cardiac interstitium. Fibrosis and renin-angiotensin-aldosterone system. Circulation 1991, 83:1849-1865.
21. Young M.J., Funder J.W. Mineralocorticoid receptors and pathophysiological roles for aldosterone in the cardiovascular system. J Hypertens 2002, 20:1465-1468.
22. Catena C., Colussi G., Nadalini E., et al. Cardiovascular outcomes in patients with primary aldosteronism after treatment. Arch Intern Med 2008, 168:80-85.
23. Neville A.M., O'Hare M.J. Histopathology of the human adrenal cortex. Clin Endocrinol Metab 1985, 14:791-820.
24. Skogseid B., Eriksson B., Lundqvist G., et al. Multiple endocrine neoplasia type 1: a 10-year prospective screening study in four kindreds. J Clin Endocrinol Metab 1991, 73:281-287.
25. Beckers A., Abs R., Willems P.J., et al. Aldosterone-secreting adrenal adenoma as part of multiple endocrine neoplasia type 1 (MEN1): loss of heterozygosity for polymorphic chromosome 11 deoxyribonucleic acid markers, including the MEN1 locus. J Clin Endocrinol Metab 1992, 75:564-570.
26. Vasan R.S., Evans J.C., Larson M.G., et al. Serum aldosterone and the incidence of hypertension in nonhypertensive persons. N Engl J Med 2004, 351:33-41.
27. Newton-Cheh C., Guo C.Y., Gona P., et al. Clinical and genetic correlates of aldosterone-to-renin ratio and relations to blood pressure in a community sample. Hypertension 2007, 49:846-856.
28. Sutherland D.J., Ruse J.L., Laidlaw J.C. Hypertension, increased aldosterone secretion and low plasma renin activity relieved by dexamethasone. Can Med Assoc J 1966, 95:1109-1119.
29. Fallo F., Sonino N., Armanini D., et al. A new family with dexamethasone-suppressible hyperaldosteronism: aldosterone unresponsiveness to angiotensin II. Clin Endocrinol (Oxf) 1985, 22:777-785.
30. Stowasser M., Bachmann A.W., Huggard P.R., et al. Treatment of familial hyperaldosteronism type I: only partial suppression of adrenocorticotropin required to correct hypertension. J Clin Endocrinol Metab 2000, 85:3313-3318.
31. Lifton R.P., Dluhy R.G., Powers M., et al. A chimaeric 11 beta-hydroxylase/aldosterone synthase gene causes glucocorticoid-remediable aldosteronism and human hypertension. Nature 1992, 355:262-265.
32. Lifton R.P., Dluhy R.G., Powers M., et al. Hereditary hypertension caused by chimaeric gene duplications and ectopic expression of aldosterone synthase. Nat Genet 1992, 2:66-74.
33. Pascoe L., Jeunemaitre X., Lebrethon M.C., et al. Glucocorticoid-suppressible hyperaldosteronism and adrenal tumors occurring in a single French pedigree. J Clin Invest 1995, 96:2236-2246.
34. Gomez-Sanchez C.E., Montgomery M., Ganguly A., et al. Elevated urinary excretion of 18-oxocortisol in glucocorticoid-suppressible aldosteronism. J Clin Endocrinol Metab 1984, 59:1022-1024.
35. Stowasser M., Bachmann A.W., Tunny T.J., et al. Production of 18-oxo-cortisol in subtypes of primary aldosteronism. Clin Exp Pharmacol Physiol 1996, 23:591-593.
36. Rich G.M., 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, 116:813-820.
37. Stowasser M., Bachmann A.W., Huggard P.R., et al. Severity of hypertension in familial hyperaldosteronism type I: relationship to gender and degree of biochemical disturbance. J Clin Endocrinol Metab 2000, 85:2160-2166.
38. Fallo F., Pilon C., Williams T.A., et al. Coexistence of different phenotypes in a family with glucocorticoid-remediable aldosteronism. J Hum Hypertens 2004, 18:47-51.
39. Stowasser M., Huggard P.R., Rossetti T.R., et al. Biochemical evidence of aldosterone overproduction and abnormal regulation in normotensive individuals with familial hyperaldosteronism type I. J Clin Endocrinol Metab 1999, 84:4031-4036.
40. Jonsson J.R., Klemm S.A., Tunny T.J., et al. A new genetic test for familial hyperaldosteronism type I aids in the detection of curable hypertension. Biochem Biophys Res Commun 1995, 207:565-571.
41. Mulatero P., Veglio F., Pilon C., et al. Diagnosis of glucocorticoid-remediable aldosteronism in primary aldosteronism: aldosterone response to dexamethasone and long polymerase chain reaction for chimeric gene. J Clin Endocrinol Metab 1998, 83:2573-2575.
42. Stowasser M., Sharman J., Leano R., et al. Evidence for abnormal left ventricular structure and function in normotensive individuals with familial hyperaldosteronism type I. J Clin Endocrinol Metab 2005, 90:5070-5076.
43. Staermose S., Marwick T.H., Gordon R.D., et al. Elevated serum interleukin 6 levels in normotensive individuals with familial hyperaldosteronism type 1. Hypertension 2009, 53:e31-e32.
44. Gordon R.D., Stowasser M., Tunny T.J., et al. Clinical and pathological diversity of primary aldosteronism, including a new familial variety. Clin Exp Pharmacol Physiol 1991, 18:283-286.
45. London N., Swales J., Hollinrake K., et al. Familial Conn's syndrome. Postgrad Med J 1992, 68:976-977.
46. Fallo F., Veglio F., Mulatero P., et al. Genetic studies in familial aldosteronism not suppressible by dexamethasone. J Endocr Genet 2000, 1:159-164.
47. Stowasser M., Gordon R.D., Tunny T.J., et al. Familial hyperaldosteronism type II: five families with a new variety of primary aldosteronism. Clin Exp Pharmacol Physiol 1992, 19:319-322.
48. Stowasser M., Gordon R.D. Familial hyperaldosteronism. J Steroid Biochem Mol Biol 2001, 78:215-229.
49. Stowasser M., Gordon R.D. Primary aldosteronism: from genesis to genetics. Trends Endocrinol Metab 2003, 14:310-317.
50. Gordon R.D., Stowasser M. Familial forms broaden horizons in primary aldosteronism. Trends Endocrinol Metab 1998, 9:220-227.
51. Curnow K.M., Mulatero P., Emeric-Blanchouin N., et al. The amino acid substitutions Ser288Gly and Val320Ala convert the cortisol producing enzyme, CYP11B1, into an aldosterone producing enzyme. Nat Struct Biol 1997, 4:32-35.
52. Pilon C., Mulatero P., Barzon L., et al. Mutations in CYP11B1 gene converting 11beta-hydroxylase into an aldosterone-producing enzyme are not present in aldosterone-producing adenomas. J Clin Endocrinol Metab 1999, 84:4228-4231.
53. Ballantine D.M., Klemm S.A., Tunny T.J., et al. PCR-SSCP analysis of the p53 gene in tumours of the adrenal gland. Clin Exp Pharmacol Physiol 1996, 23:582-583.
54. Torpy D.J., Gordon R.D., Lin J.P., et al. Familial hyperaldosteronism type II: description of a large kindred and exclusion of the aldosterone synthase (CYP11B2) gene. J Clin Endocrinol Metab 1998, 83:3214-3218.
55. Torpy D.J., Stratakis C.A., Gordon R.D. Linkage analysis of familial hyperaldosteronism type II-absence of linkage to the gene encoding the angiotensin II receptor type 1. J Clin Endocrinol Metab 1998, 83:1046.
56. Lafferty A.R., Torpy D.J., Stowasser M., et al. A novel genetic locus for low renin hypertension: familial hyperaldosteronism type II maps to chromosome 7 (7p22). J Med Genet 2000, 37:831-835.
57. So A., Duffy D.L., Gordon R.D., et al. Familial hyperaldosteronism type II is linked to the chromosome 7p22 region but also shows predicted heterogeneity. J Hypertens 2005, 23:1477-1484.
58. Sukor N., Mulatero P., Gordon R.D., et al. Further evidence for linkage of familial hyperaldosteronism type II at chromosome 7p22 in Italian as well as Australian and South American families. J Hypertens 2008, 26:1577-1582.
59. Fallo F., Pilon C., Barzon L., et al. Retention of heterozygosity at chromosome 7p22 and 11q13 in aldosterone-producing tumours of patients with familial hyperaldosteronism not remediable by glucocorticoids. J Hum Hypertens 2004, 18:829-830.
60. Elphinstone M.S., Gordon R.D., So A., et al. Genomic structure of the human gene for protein kinase A regulatory subunit R1-beta (PRKAR1B) on 7p22: no evidence for mutations in familial hyperaldosteronism type II in a large affected kindred. Clin Endocrinol (Oxf) 2004, 61:716-723.
61. Jeske Y.W., So A., Kelemen L., et al. Examination of chromosome 7p22 candidate genes RBaK, PMS2 and GNA12 in familial hyperaldosteronism type II. Clin Exp Pharmacol Physiol 2008, 35:380-385.
62. So A., Jeske Y.W., Gordon R.D., et al. No evidence for coding region mutations in the retinoblastoma-associated Kruppel-associated box protein gene (RBaK) causing familial hyperaldosteronism type II. Clin Endocrinol (Oxf) 2006, 65:829-831.
63. Warnock D.G. Liddle syndrome: genetics and mechanisms of Na+ channel defects. Am J Med Sci 2001, 322:302-307.
64. Cope G., Golbang A., O'Shaughnessy K.M. WNK kinases and the control of blood pressure. Pharmacol Ther 2005, 106:221-231.
65. Geller D.S., Zhang J., Wisgerhof M.V., et al. A novel form of human mendelian hypertension featuring nonglucocorticoid-remediable aldosteronism. J Clin Endocrinol Metab 2008, 93:3117-3123.
66. + channel mutations in adrenal aldosterone-producing adenomas and hereditary hypertension. Science 2011, 331:768-772.
67. Mulatero P. A new form of hereditary primary aldosteronism: familial hyperaldosteronism type III. J Clin Endocrinol Metab 2008, 93:2972-2974.
68. Quack I., Vonend O., Rump L.C. Familial hyperaldosteronism I-III. Horm Metab Res 2010, 42:424-428.
69. Stowasser M., Gordon R.D. Primary aldosteronism: learning from the study of familial varieties. J Hypertens 2000, 18:1165-1176.
70. Greco R.G., Carroll J.E., Morris D.J., et al. Familial hyperaldosteronism, not suppressed by dexamethasone. J Clin Endocrinol Metab 1982, 55:1013-1016.
71. Malagon-Rogers M. Non-glucocorticoid-remediable aldosteronism in an infant with low-renin hypertension. Pediatr Nephrol 2004, 19:235-236.
72. Davies E., Holloway C.D., Ingram M.C., et al. Aldosterone excretion rate and blood pressure in essential hypertension are related to polymorphic differences in the aldosterone synthase gene CYP11B2. Hypertension 1999, 33:703-707.
73. Lim P.O., Macdonald T.M., Holloway C., et al. Variation at the aldosterone synthase (CYP11B2) locus contributes to hypertension in subjects with a raised aldosterone-to-renin ratio. J Clin Endocrinol Metab 2002, 87:4398-4402.
74. Inglis G.C., Plouin P.F., Friel E.C., et al. Polymorphic differences from normal in the aldosterone synthase gene (CYP11B2) in patients with primary hyperaldosteronism and adrenal tumour (Conn's syndrome). Clin Endocrinol (Oxf) 2001, 54:725-730.
75. Nicod J., Bruhin D., Auer L., et al. A biallelic gene polymorphism of CYP11B2 predicts increased aldosterone to renin ratio in selected hypertensive patients. J Clin Endocrinol Metab 2003, 88:2495-2500.
76. Komiya I., Yamada T., Takara M., et al. Lys(173)Arg and -344T/C variants of CYP11B2 in Japanese patients with low-renin hypertension. Hypertension 2000, 35:699-703.
77. Mulatero P., Schiavone D., Fallo F., et al. CYP11B2 gene polymorphisms in idiopathic hyperaldosteronism. Hypertension 2000, 35:694-698.
78. Pojoga L., Gautier S., Blanc H., et al. Genetic determination of plasma aldosterone levels in essential hypertension. Am J Hypertens 1998, 11:856-860.
79. Connell J.M., MacKenzie S.M., Freel E.M., et al. A lifetime of aldosterone excess: long-term consequences of altered regulation of aldosterone production for cardiovascular function. Endocr Rev 2008, 29:133-154.
80. Davies E., Holloway C.D., Ingram M.C., et al. An influence of variation in the aldosterone synthase gene (CYP11B2) on corticosteroid responses to ACTH in normal human subjects. Clin Endocrinol (Oxf) 2001, 54:813-817.
81. Barr M., MacKenzie S.M., Wilkinson D.M., et al. Functional effects of genetic variants in the 11beta-hydroxylase (CYP11B1) gene. Clin Endocrinol (Oxf) 2006, 65:816-825.
82. Carroll J., Dluhy R., Fallo F., et al. Aldosterone-producing adenomas do not contain glucocorticoid-remediable aldosteronism chimeric gene duplications. J Clin Endocrinol Metab 1996, 81:4310-4312.
83. Takeda Y., Furukawa K., Inaba S., et al. Genetic analysis of aldosterone synthase in patients with idiopathic hyperaldosteronism. J Clin Endocrinol Metab 1999, 84:1633-1637.
84. Hampf M., Widimsky J., Bernhardt R. Aldosterone synthase gene in patients suffering from hyperaldosteronism. Endocr Res 1998, 24:877-880.
85. Klemm S.A., Ballantine D.M., Tunny T.J., et al. PCR-SSCP analysis of the angiotensin II type 1 receptor gene in patients with aldosterone-producing adenomas. Clin Exp Pharmacol Physiol 1995, 22:457-459.
86. Davies E., Bonnardeaux A., Plouin P.F., et al. Somatic mutations of the angiotensin II (AT1) receptor gene are not present in aldosterone-producing adenoma. J Clin Endocrinol Metab 1997, 82:611-615.
87. Iida A., Blake K., Tunny T., et al. Allelic losses on chromosome band 11q13 in aldosterone-producing adrenal tumors. Genes Chromosomes Cancer 1995, 12:73-75.
88. Gordon R., Gartside M., Tunny T., et al. Different allelic patterns at chromosome 11q13 in paired aldosterone-producing tumours and blood DNA. Clin Exp Pharmacol Physiol 1996, 23:594-596.
89. Charpentier F., Merot J., Loussouarn G., et al. Delayed rectifier K(+) currents and cardiac repolarization. J Mol Cell Cardiol 2010, 48:37-44.
90. Wymore R.S., Gintant G.A., Wymore R.T., et al. Tissue and species distribution of mRNA for the IKr-like K+ channel, erg. Circ Res 1997, 80:261-268.
91. Sarzani R., Pietrucci F., Corinaldesi C., et al. The functional HERG variant 897T is associated with Conn's adenoma. J Hypertens 2006, 24:479-487.
92. Williams T.A., Monticone S., Morello F., et al. Teratocarcinoma-derived growth factor-1 is upregulated in aldosterone-producing adenomas and increases aldosterone secretion and inhibits apoptosis in vitro. Hypertension 2010, 55:1468-1475.
93. Giuliani L., Lenzini L., Antonello M., et al. Expression and functional role of urotensin-II and its receptor in the adrenal cortex and medulla: novel insights for the pathophysiology of primary aldosteronism. J Clin Endocrinol Metab 2009, 94:684-690.
94. Billet S., Bardin S., Verp S., et al. Gain-of-function mutant of angiotensin II receptor, type 1A, causes hypertension and cardiovascular fibrosis in mice. J Clin Invest 2007, 117:1914-1925.
95. Sausbier M., Arntz C., Bucurenciu I., et al. Elevated blood pressure linked to primary hyperaldosteronism and impaired vasodilation in BK channel-deficient mice. Circulation 2005, 112:60-68.
96. Grimm P.R., Irsik D.L., Settles D.C., et al. Hypertension of Kcnmb1-/- is linked to deficient K secretion and aldosteronism. Proc Natl Acad Sci U S A 2009, 106:11800-11805.
97. Lymperopoulos A., Rengo G., Zincarelli C., et al. An adrenal beta-arrestin 1-mediated signaling pathway underlies angiotensin II-induced aldosterone production in vitro and in vivo. Proc Natl Acad Sci U S A 2009, 106:5825-5830.
98. Doi M., Takahashi Y., Komatsu R., et al. Salt-sensitive hypertension in circadian clock-deficient Cry-null mice involves dysregulated adrenal Hsd3b6. Nat Med 2010, 16:67-74.
99. Davies L.A., Hu C., Guagliardo N.A., et al. TASK channel deletion in mice causes primary hyperaldosteronism. Proc Natl Acad Sci U S A 2008, 105:2203-2208.
100. Bhandaru M., Kempe D.S., Rotte A., et al. Hyperaldosteronism, hypervolemia, and increased blood pressure in mice expressing defective APC. Am J Physiol Regul Integr Comp Physiol 2009, 297:R571-R575.
101. Makhanova N., Hagaman J., Kim H.S., et al. Salt-sensitive blood pressure in mice with increased expression of aldosterone synthase. Hypertension 2008, 51:134-140.
102. Paver W.K., Pauline G.J. Hypertension and hyperpotassaemia without renal disease in a young male. Med J Aust 1964, 2:305-306.
103. Arnold J.E., Healy J.K. Hyperkalemia, hypertension and systemic acidosis without renal failure associated with a tubular defect in potassium excretion. Am J Med 1969, 47:461-472.
104. Gordon R.D., Geddes R.A., Pawsey C.G., et al. Hypertension and severe hyperkalaemia associated with suppression of renin and aldosterone and completely reversed by dietary sodium restriction. Australas Ann Med 1970, 4:287-294.
105. Barrter F.C., Pronove P., Gill J.R., et al. Hyperplasia of the juxtaglomerular complex with hyperaldosteronism and hypokalemic alkalosis: a new syndrome. Am J Med 1962, 33:811-828.
106. de Wardener H.E., Mills I.H., Clapham W.F., et al. Studies on the efferent mechanism of the sodium diuresis which follows the administration of intravenous saline in the dog. Clin Sci 1961, 21:249-258.
107. de Wardener H.E. Selective defects of tubular function. The kidney: an outline of normal and abnormal structure and function 1973, 230-243. Churchill Livingstone, London. 4th edition.
108. DeBold A.J., Borenstein H.B., Veress A.T., et al. A rapid and potent natriuretic response to intravenous injection of atrial myocardial extracts in rats. Life Sci 1981, 28:89-94.
109. Tunny T.J., Gordon R.D. Plasma atrial natriuretic peptide in primary aldosteronism (before and after treatment) and in Bartter's and Gordon's syndromes. Lancet 1986, 1:272-273.
110. Tunny T.J., Higgins B.A., Gordon R.D. Plasma levels of atrial natriuretic peptide in man in primary aldosteronism, in Gordon's syndrome and in Bartter's syndrome. Clin Exp Pharmacol Physiol 1986, 13:341-345.
111. Gordon R.D., Tunny T.J., Klemm S.A. Indomethacin and atrial natriuretic peptide in Barrter's syndrome. N Engl J Med 1986, 315:459.
112. Valimaki M., Pelkonen R., Tikkanen I., et al. A deficient response of atrial natriuretic peptide to volume overload in Gordon's syndrome. Acta Endocrinol (Copenh) 1989, 120:331-336.
113. Gordon R.D., Ravenscroft P.J., Klemm S.A., et al. A new Australian kindred with the syndrome of hypertension and hyperkalemia has dysregulation of atrial natriuretic factor. J Hypertens 1988, 8(Suppl 4):s323-s326.
114. Ader J.L., Waeber B., Suc J.M., et al. [Arterial hypertension with hyperkalemia, tubular acidosis and normal renal function: Gordon syndrome and/or pseudohypoaldosteronism type II?], Arch Mal Coeur Vaiss 1988, 81(Spec No):193-197. [in French].
115. Semmekrot B., Monnens L., Theelen B.G., et al. The syndrome of hypertension and hyperkalaemia with normal glomerular function (Gordon's syndrome). A pathophysiological study. Pediatr Nephrol 1987, 1:473-478.
116. Tormey W.P., Morgan D.B. Etiological considerations in Gordon's syndrome: possible role of prostaglandins. Prostaglandins Med 1980, 4:107-112.
117. Stiefel P., Garcia-Morillo S., Miranda M.L., et al. Gordon's syndrome: increased maximal rate of the Na-K-Cl cotransport and erythrocyte membrane replacement of sphingomyelin by phosphatidylethanolamine. J Hypertens 2000, 18:1327-1330.
118. Farfel Z., Iaina A., Rosenthal T., et al. Familial hyperpotassemia and hypertension accompanied by normal plasma aldosterone levels: possible cell membrane defect. Arch Intern Med 1978, 138:1828-1832.
119. Disse-Nicodeme S., Desitter I., Fiquet-Kempf B., et al. Genetic heterogeneity of familial hyperkalaemic hypertension. J Hypertens 2001, 19:1957-1964.
120. Gordon R.D., Klemm S.A., Tunny T.J. Gordon's syndrome and Liddle's syndrome. Handbook of hypertension, vol. 15 (Robertson JIS, editor. Clinical hypertension.) 1992, 461-493. Elsevier, Amsterdam. W.J. Birkenhager, J.L. Reid (Eds.).
121. Gordon R.D. Syndrome of hypertension and hyperkalemia with normal glomerular filtration rate. Hypertension 1986, 8:93-102.
122. Gordon R.D., Tunny T.J., Klemm S.A., et al. The syndrome of hypertension with hyperkalemia and normal glomerular filtration rate. A rare form of hypertension. Hypertension: pathophysiology, diagnosis and management 1990, 1625-1638. Raven Press, New York. J.H. Laragh, B.M. Brenner (Eds.).
123. Gordon R.D., Klemm S.A., Tunny T.J., et al. Gordon's syndrome: a sodium-volume-dependent form of hypertension with a genetic basis. Hypertension: pathophysiology, diagnosis and treatment 1995, 2111-2123. Raven Press, New York. 2nd edition. J.H. Laragh, B.M. Brenner (Eds.).
124. Sanjad S.A., Mansour F.M., Hernandez R.H., et al. Severe hypertension, hyperkalemia and renal tubular acidosis responding to dietary sodium restriction. Pediatrics 1982, 69:317-324.
125. Klemm S.A., Gordon R.D., Tunny T.J., et al. Biochemical correction in the syndrome of hypertension and hyperkalaemia by severe dietary salt restriction suggests renin-aldosterone suppression critical in pathophysiology. Clin Exp Pharmacol Physiol 1990, 17:191-195.
126. Schambelan M., Sebastian A., Rector F.C. Mineralocorticoid-resistant renal hyperkalemia without salt wasting (type II pseudohypoaldosteronism): role of increased renal chloride reabsorption. Kidney Int 1981, 19:716-727.
127. Mayan H., Mouallem M., Sharharabany M., et al. Resolution of hypertension during pregnancy in familial hyperkalemia and hypertension with the WNK4Q565E mutation. Am J Obstet Gynecol 2005, 192:598-603.
128. Mansfield T.A., Simon D.B., Farfel Z., et al. Multilocus linkage of familial hyperkalaemia and hypertension, pseudohypoaldosteronism type II, to chromosomes 1q31-42 and 17p11-q21. Nat Genet 1997, 16:202-205.
129. O'Shaughnessy K.M., Fu B., Johnson A., et al. Linkage of Gordon's syndrome to the long arm of chromosome 17 in a region recently linked to familial essential hypertension. J Hum Hypertens 1998, 12:675-678.
130. Disse-Nicodeme S., Achard J.M., Desitter I., et al. A new locus on chromosome 12p13.3 for pseudohypoaldosteronism type II, an autosomal dominant form of hypertension. Am J Hum Genet 2000, 67:302-310.
131. Wilson F.H., Disse-Nicodeme S., Choate K.A., et al. Human hypertension caused by mutations in WNK kinases. Science 2001, 293:1107-1112.
132. Hadchouel J., Delaloy C., Faure S., et al. Familial hyperkalemic hypertension. J Am Soc Nephrol 2006, 17:208-217.
133. Simon D.B., Nelson-Williams C., Bia M.J., et al. Gitelman's variant of Barrter's syndrome, inherited hypokalemic alkalosis, is caused by mutations in the thiazide-sensitive Na-Cl cotransporter. Nat Genet 1996, 12:24-30.
134. Mayan H., Vered I., Mouallem M., et al. Pseudohypoaldosteronism type II: marked sensitivity to thiazides, hypercalciuria, normomagnesemia, and low bone mineral density. J Clin Endocrinol Metab 2002, 87:3248-3254.
135. Mayan H., Melnikov S., Novikov I., et al. Familial hyperkalemia and hypertension: pathogenetic insights based on lithium clearance. J Clin Endocrinol Metab 2009, 94:3010-3016.
136. Weinstein S.F., Allen D.M., Mendoza S.A. Hypertension, acidosis, and short stature associated with a defect in renal potassium excretion. J Pediatr 1974, 85:353-358.
137. Rodriguez-Soriano J., Vallo A., Dominguez M.J. " Chloride-shunt" syndrome: an overlooked cause of renal hypercalciuria. Pediatr Nephrol 1989, 3:113-121.
138. Klemm S.A., Gordon R.D., Tunny T.J., et al. The syndrome of hypertension and hyperkalemia with normal GFR (Gordon's syndrome): is there increased proximal sodium reabsorption?. Clin Invest Med 1991, 14:551-558.
139. Thomsen K., Shirley D.G. A hypothesis linking sodium and lithium reabsorption in the distal nephron. Nephrol Dial Transplant 2006, 21:869-880.
140. Mayan H., Attar-Hertzberg D., Sharharabany M., et al. Increased urinary Na-Cl cotransporter protein in familial hyperkalemia and hypertension. Nephrol Dial Transplant 2008, 23:492-496.
141. Choate K.A., Kahle K.T., Wilson F.H., et al. WNK1, a kinase mutated in inherited hypertension with hyperkalemia, localizes to diverse Cl- -transporting epithelia. Proc Natl Acad Sci U S A 2003, 100:663-668.
142. Kahle K.T., Gimenez I., Hassan H., et al. WNK4 regulates apical and basolateral Cl- flux in extrarenal epithelia. Proc Natl Acad Sci U S A 2004, 101:2064-2069.
143. Farfel Z., Mayan H., Yaacov Y., et al. WNK4 regulates airway Na+ transport: study of familial hyperkalaemia and hypertension. Eur J Clin Invest 2005, 35:410-415.
144. Kerem E., Bistritzer T., Hanukoglu A., et al. Pulmonary epithelial sodium-channel dysfunction and excess airway liquid in pseudohypoaldosteronism. N Engl J Med 1999, 341:156-162.
145. Delaloy C., Hadchouel J., Imbert-Teboul M., et al. Cardiovascular expression of the mouse WNK1 gene during development and adulthood revealed by a BAC reporter assay. Am J Pathol 2006, 169:105-118.
146. Levy D., DeStefano A.L., Larson M.G., et al. Evidence for a gene influencing blood pressure on chromosome 17. Genome scan linkage results for longitudinal blood pressure phenotypes in subjects from the Framingham Heart Study. Hypertension 2000, 36:477-483.
147. Zhang H., Staessen J.A. Association of blood pressure with genetic variation in WNK kinases in a white European population. Circulation 2005, 112:3371-3372.
148. Glover M., Zuber A.M., O'Shaughnessy K.M. Hypertension, dietary salt intake, and the role of the thiazide-sensitive sodium chloride transporter NCCT. Cardiovasc Ther 2011, 29(1):68-76.