In familial hyperaldosteronism type I, hybrid gene-induced aldosterone production dominates that induced by wild-type genes

Journal of Clinical Endocrinology and Metabolism

Volumn 82, Issue 11, 1997, Pages 3670-3676

  Stowasser, Michael ^a   Gartside, Michael G ^a   Taylor, Wendy L ^a   Tunny, Terry J ^a   Gordon, Richard D ^a  

^a UNIVERSITY OF QUEENSLAND   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

ALDOSTERONE; ANGIOTENSIN; CORTICOTROPIN; DEXAMETHASONE; GLUCOCORTICOID; HYDROCORTISONE; POTASSIUM; PREDNISONE; RENIN; STEROID 11BETA MONOOXYGENASE; SYNTHETASE;

ADOLESCENT; ADULT; AGED; ALDOSTERONE RELEASE; ARTICLE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; FEMALE; HUMAN; HYBRID GENE; HYPERALDOSTERONISM; HYPERTENSION; HYPOKALEMIA; MALE; PLASMA RENIN ACTIVITY; PRIORITY JOURNAL;

EID: 0030698380     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.82.11.3670     Document Type: Article

References (37)

1. Gill JR, Bartter FC. 1981 Overproduction of sodium-retaining steroids by the zona giomerulosa is adrenocorticotropin-dependent and mediates hypertension in dexamethasone-suppressible aldosteronism. J Clin Endocrinol Metab. 53:331-337.
2. Woodland E, Tunny TJ, Hamlet SM, Gordon RD. 1985 Hypertension corrected and aldosterone responsiveness to renin-angiotensin restored by long-term dexamethasone in glucocorticoid-suppressible hyperaldosteronism. Clin Exp Pharmacol Physiol. 12:245-248.
3. Fallo F, Sonino N, Armanini D, et al. 1985 A new family with dexamethasone-suppressible hyperaldosteronism: aldosterone unresponsiveness to angiotensin II. Clin Endocrinol. 22:777-785.
4. Connell JMC, Kenyon CJ, Corrie JET, Fraser R, Watt R, Lever AF. 1986 Dexamethasone-suppressible hyperaldosteronism: adrenal transitional cell hyperplasia? Hypertension. 8:669-676.
5. Ganguly A, Grim CE, Weinberger MH. 1981 Anomalous postural aldosterone response in glucocorticoid-suppressible hyperaldosteronism. N Engl J Med 305:991-993.
6. Stowasser M, Gordon RD, Klemm SA, Tunny TJ. 1993 Renin-aldosterone-response to dexamethasone in glucocorticoid-suppressible hyperaldosteronism is altered by coexistent renal artery stenosis. J Clin Endocrinol Metab. 77:800-804.
7. Newton MA, Laragh JH. 1968 Effects of corticotropin on aldosterone excretion and plasma renin in normal subjects, in essential hypertension and in primary aldosteronism. J Clin Endocrinol Metab. 28:1007-1013.
8. Ganguly A, Chavarri M, Luetscher JA, Dowdy AJ. 1977 Transient fall and subsequent return of high aldosterone secretion by adrenal adenoma during continued dexamethasone administration. J Clin Endocrinol Metab. 44.775-779.
9. Lifton RP, Dluhy RG, Powers M, et al. 1992 A chimaeric 11β-hydroxylase/aldosterone synthase gene causes glucocorticoid-remeditible aldosteronism and human hypertension. Nature. 355:262-265.
10. Lifton RP, Dluhy RG, Powers M, et al. 1992 Hereditary hypertension caused by chimaeric gene duplications and ectopic expression of aldosterone synthase. Nat Genet. 2:66-74.
11. Miyahara K, Kawamoto T, Mitsuuchi Y, et al. 1992 The chimeric gene linked to glucocorticoid-suppressible hyperaldosteronism encodes A fused P-450 protein possessing aldosterone synthase activity. Biochem Biophys Res Commun. 189:885-891.
12. Pascoe L, Curnow KM, Slutsker L, et al. 1992 Glucocorticoid-suppressible hyperaldosteronism results from hybrid genes created by unequal crossovers between CYP11B1 and CYP11B2. Proc Natl Acad Sci USA. 89:8327-8331.
13. Stowasser M, Bachmann AW, Jonsson JR, Tunny TJ, Klemm SA, Gordon RD. 1995 Clinical, biochemical and genetic approaches to the detection of familial hyperaldosteronism type I. J Hypertens. 13:1610-1613.
14. Jonsson JR, Klemm SA, Tunny TJ, Stowasser M, Gordon RD. 1995 A new genetic test for familial hyperaldosteronism type I aids in the detection of curable hypertension. Biochem Biophys Res Comm. 207:565-571.
15. Mayes D, Furuyama S, Kem DC, Nugent CA. 1970 A radioimmunoassay for plasma aldosterone. J Clin Endocrinol Metab. 30:682-685.
16. Haber E, Koerner T, Page LB, Kliman B, Purnode A. 1969 Application of a radioimmunoassay for angiotensin I to the physiologic measurement of plasma renin activity in normal human subjects. J Clin Endocrinol Metab. 29:1349-1355.
17. Stowasser M, Bachmann AT, Jonsson JR, Tunny TJ, Klemm SA, Gordon RD. 1995 Hybrid gene or hybrid steroids in the detection and screening for familial hyperaldosteronism type I. Clin Exp Pharmacol Physiol. 22:444-446.
18. Michelakis AM, Horton R. 1970 The relationship between plasma renin and aldosterone in normal man. Circ Res. [Suppl 1]26-27:185-202.
19. Katz FH, Romfh P, Smith JA. 1975 Diurnal variation of plasma aldosterone, cortisol and renin activity in supine man. J Clin Invest. 40:125-134.
20. Takeda R, Miyamori I, Masatoshi I, et al. 1984 Circadian rhythm of plasma aldosterone and time dependent alterations of aldosterone regulators. J Steroid Biochem Mol Biol. 20:321-323.
21. Ney RL, Shimizu N, Nicholson WE, Island DP, Liddle GW. 1963 Correlation of plasma ACTH concentration and adrenocortical response in normal human subjects, surgical patients and patients with Cushing's disease. J Clin Invest. 42:1669-1742.
22. Veldhuis JD, Iranmanesh A, Johnson ML, Lizarralde G. 1940 Amplitude, but not frequency, modulation of ACTH secretory bursts gives rise to the nyctohemeral rhythm of the corticotropic axis in man. J Clin Endocrinol Metab. 71:452-463.
23. Gordon RD, Wolfe KW, Island DP, Liddle GW. 1966 A diurnal rhythm in plasma renin activity in man. J Clin Invest. 45:1587-1592.
24. Williams GH, Cain JP, Dluhy RG, Underwood RH. 1972 Studies of the control of plasma aidosterone concentration in normal man. J Clin Invest. 51:1731-1742.
25. Viewig WVR, Veldhuis JD, Carey RM. 1992 Temporal pattern of renin and aidosterone secretion in men: effects of sodium balance. Am J Physiol. 262:F871-F877.
26. Vagnucci AH, McDonald Jr RH, Drash AL, Wong AKC. 1974 Intradiem changes of plasma aidosterone, Cortisol, corticosterone and growth hormone in sodium restriction. J Clin Endocrinol Metab. 38:761-776.
27. Kem DC, Weinberger MH, Gomez-Sanchez C, et al. 1973 Circadian rhythm of plasma aldosterone concentration in patients with primary aldosteronism. J Clin Invest. 52.2272-2277.
28. Vetter H, Berger M, Armbruster H, Siegenthaler W, Werning C, Vetter W. 1974 Episodic secretion of aldosterone in primary aldosteronism: relationship to Cortisol. Clin Endocrinol (Oxf). 3:41-48.
29. Curnow KM, Tusie-Luna T, Pascoe L, et al. 1991 The product of the CYP11B2 gene is required for aldosterone biosynthesis in the human adrenal cortex. Mol Endocrinol. 5:1513-1522.
30. Ulick S, Chan CK, Gill Jr JR, et al. 1990 Defective fasciculata zone function as the mechanism of glucocorticoid-remediable aldosteronism. J Clin Endocrinol Metab. 71:1151-1157.
31. Pascoe L, Jeunemaitre X, Lebrethon MC, et al. 1995 Glucocorticoid-suppressible hyperaldosteronism and adrenal tumors occurring in a single pedigree. J Clin Invest. 96:2236-2246.
32. Stowasser M, Taylor WL, Gartside MG, Tunny TJ, Gordon RD. Evidence for persistent wild-type aldosterone synthase gene dysfunction in glucocorticoid-treated familial hyperaldosteronism type I. J Hypertens. In press.
33. Biglieri EG, Slaton Jr PE, Silen WS, Galante M, Forsham PH. 1966 Postoperative studies of adrenal function in primary aldosteronism. J Clin Endocrinol Metab. 26:553-558.
34. Tunny TJ, Klemm SA, Stowasser M, Gordon RD. 1993 Angiotensin-responsive aldosterone-producing adenomas: postoperative disappearance of aldosterone response to angiotensin. Clin Exp Pharmacol Physiol. 20:306-309.
35. Hamilton BP, Zadik Z, Edwin CA, Hamilton JH, Kowarski AA. 1979 Effect of adrenal suppression with dexamethasone in essential hypertension. J Clin Endocrinol Metab. 48:848-853.
36. Fallo F, Kuhnle U, Boscaro M, Sonino N. 1994 Abnormality of aldosterone and Cortisol late pathways in glucocorticoid-remediable aldosteronism. J Clin Endocrinol Metab. 79:772-774.
37. Jamieson A, Ingram MC, Inglis GC, Davies E, Fraser R, Connell JMC. 1996 Altered 11β-hydroxylase activity in glucocorticoid-suppressible hyperaldosteronism. J Clin Endocrinol Metab. 81:2298-2302.