Apparent mineralocorticoid excess in a brazilian kindred: Hypertension in the heterozygote state

Journal of Hypertension

Volumn 15, Issue 12, 1997, Pages 1397-1402

  Li, Airong ^a   Li, Kevin X Z ^a   Marui, Suemi ^a   Krozowski, Zygmunt S ^a   Batista, Marcelo C ^a   Whorwood, Christopher B ^a   Arnhold, Ive J P ^a   Shackleton, Cedric H L ^a   Mendonca, Berenice B ^a   Stewart, Paul M ^a  

^a UNIVERSITY DEPARTMENT OF MEDICINE   (United Kingdom)

Author keywords

11 hydroxysteroid dehydrogenase; Cortisol; Cortisone; Glucocorticoid; Hypertension; Mineralocorticoid; Molecular genetics

Indexed keywords

11BETA HYDROXYSTEROID DEHYDROGENASE; ALANINE; ALDOSTERONE; CORTISONE; HYDROCORTISONE; ISOENZYME; MINERALOCORTICOID; POTASSIUM; RENIN; VALINE;

ADULT; ALDOSTERONE BLOOD LEVEL; AMINO ACID SUBSTITUTION; ARTICLE; BRAZIL; CASE REPORT; CLINICAL FEATURE; CODON; DNA SEQUENCE; ENZYME ACTIVITY; EXON; FEMALE; GENE AMPLIFICATION; GENE MUTATION; GENETIC POLYMORPHISM; HETEROZYGOTE; HUMAN; HYDROCORTISONE URINE LEVEL; HYPERTENSION; HYPOKALEMIA; MALE; PHENOTYPE; PLASMA RENIN ACTIVITY; POINT MUTATION; POLYMERASE CHAIN REACTION; POTASSIUM BLOOD LEVEL; PRIORITY JOURNAL; SCHOOL CHILD; SCREENING TEST;

EID: 6844237653     PISSN: 02636352     EISSN: 14735598     Source Type: Journal    
DOI: 10.1097/00004872-199715120-00005     Document Type: Article

References (28)

1. Ulick S, Levine S, Gunczler P, Zanconato G, Ramirez LC, Rauh W, et al.: A syndrome of apparent mineralocorticoid excess associated with defects in the peripheral metabolism of cortisol. J Clin Endocrinol Metab 1979, 49:747-764.
2. Monder C, Shackleton CHL, Bradlow HL, New MI, Stoner E, Iohan F, et al.: The syndrome of apparent mineralocorticoid excess: its association with 11β-dehydrogenase and 5 α-reductase deficiency and some consequences for corticosteroid metabolism. J Clin Endocrinol Metab 1986, 63:550-557.
3. Shackleton CHL, Stewart PM: The hypertension of apparent mineralocorticoid excess (AME) syndrome. In Endocrine Hypertension. Edited by Biglieri EG, Melby JE. New York: Raven Press Ltd; 1990:155-173.
4. Dimartino-Nardi J, Stoner E, Martin K, Balfe JW, Jose PA, New MI: New findings in apparent mineralocorticoid excess. Clin Endocrinol 1987, 27:49-52.
5. Stewart PM, Corrie JET, Shackleton CHL, Edwards CRW: Syndrome of apparent mineralocorticoid excess: a defect in the cortisol-cortisone shuffle. J Clin Invest 1988, 82:340-349.
6. Edwards CRW, Stewart PM, Burt D, Brett L, McIntyre MA, Sutano WS, et al.: Localization of 11β-hydroxysteroid dehydrogenase-tissue specific protector of the mineralocorticoid receptor. Lancet 1988, ii:986-989.
7. Funder JW, Pearce PT, Smith R, Smith AI: Mineralocorticoid action: target tissue specificity is enzyme, not receptor, mediated. Science 1988, 242:583-585.
8. Nikkilä H, Tannin GM, New MI, Taylor NF, Kalaitzoglou G, Monder C, et al.: Defects in the HSD11 gene encoding 11β-hydroxysteroid dehydrogenase are not found in patients with apparent mineralocorticoid excess or 11β-oxoreductase deficiency. J Clin Endocrinol Metab 1993, 77:687-691.
9. Wilson RC, Krozowski ZS, Li K, Obeyesekere VR, Razzaghy-Azar M, Harbison MD, et al.: A mutation in the HSD11β2 gene in a family with apparent mineralocorticoid excess. J Clin Endocrinol Metab 1995, 80:2263-2266.
10. Mune T, Rogerson FM, Nikkila H, Agarwal AK, White PC: Human hypertension caused by mutations in the kidney isozyme of 11β-hydroxysteroid dehydrogenase. Nature Genet 1995, 10:394-399.
11. Stewart PM, Krozowski ZS, Gupta A, Milford DV, Howie AJ, Sheppard MC, et al.: Hypertension in the syndrome of apparent mineralocorticoid excess due to mutation of the 11β-hydroxysteroid dehydrogenase type 2 gene. Lancet 1996, 347:88-91.
12. Wilson RC, Harbison MD, Krozowski ZS, Funder JW, Shackleton CHL, Hanauske-Abel HM, et al.: Several homozygous mutations in the gene for 11β-hydroxysteroid dehydrogenase type 2 in patients with apparent mineralocorticoid excess. J Clin Endocrinol Metab 1995, 80:3145-3150.
13. Albiston AL, Obeyesekere VR, Smith RE, Krozowski ZS: Cloning and tissue distribution of the human 11β-hydroxysteroid dehydrogenase type 2 enzyme. Mol Cell Endocrinol 1994, 105:R11-R17.
14. Whorwood CB, Mason JI, Ricketts ML, Howie AJ, Stewart PM: Detection of human 11β-hydroxysteroid dehydrogenase isoforms using reverse transcriptase-polymerase chain reaction and localization of the type 2 isoform to renal collecting ducts. Mol Cell Endocrinol 1995, 110:R7-R12.
15. Batista MC, Mendonca BB, Kater C, Arnhold IJP, Rocha A, Nicolau W, et al.: Spironolactone-reversible ricketts associated with 11β-hydroxysteroid dehydrogenase syndrome. J Pediatr 1986, 109:989-993.
16. Agarwal AK, Rogerson FM, Mune T, White PC: Gene structure and chromosomal localization of the human HSD11K gene encoding the kidney (type 2) isozyme of 11β-hydroxysteroid dehydrogenase. Genomics 1995, 29:195-199.
17. Ferrari P, Obeyesekere VR, Li K, Wilson RC, New MI, Funder JW, et al.: Point mutations abolish 11β-hydroxysteroid dehydrogenase type II activity in three families with the congenital syndrome of apparent mineralocorticoid excess. Mol Cell Endocrinol 1996, 119:21-24.
18. Krozowski ZS, Maguire JA, Stein-Oakley AN, Dowling J, Smith RE, Andrews RK: Immunohistochemical localization of the 11β-hydroxysteroid dehydrogenase type II enzyme in human kidney and placenta. J Clin Endocrinol Metab 1995, 80:2203-2209.
19. m 11β-hydroxysteroid dehydrogenase type 2 enzyme in a family with apparent mineralocorticoid excess. J Clin Endocrinol Metab 1995, 80:3381-3383.
20. Mune T, White PC: Apparent mineralocorticoid excess. Genotype is correlated with biochemical phenotype. Hypertension 1996, 27:1193-1199.
21. Ferrari P, Obeyesekere VR, Li K, Andrews RK, Krozowski ZS: The 11β-hydroxysteroid dehydrogenase type II enzyme: biochemical consequences of the congenital R337C mutation. Steroids 1996, 61:197-200.
22. Escher G, Meyer KV, Vishwanath BS, Frey BM, Frey FJ: Furosemide inhibits 11β-hydroxysteroid dehydrogenase in vitro and in vivo. Endocrinology 1995, 136:1759-1765.
23. Rich GM, Ulick S, Cook S, Wang J, Lifton RP, Dluhy RG: Glucocorticoidremediable aldosteronism in a large kindred: clinical spectrum and diagnosis using a characteristic biochemical phenotype. Ann Intern Med 1992, 116:813-820.
24. Botero-Velaz M, Curtis JJ, Warnock DG: Liddle's syndrome revisited: a disorder of sodium reabsorption in the distal tubule [brief report]. N Engl J Med 1994, 330:178-181.
25. Gordon RD: Heterogenous hypertension. Nature Genet 1995, 11: 6-9.
26. Walker BR, Stewart PM, Shackleton CHL, Padfield PL, Edwards CRW: Deficient inactivation of cortisol by 11β-hydroxysteroid dehydrogenase in essential hypertension. Clin Endocrinol 1993, 39:221-227.
27. Soro A, Ingram MC, Tonolo G, Glorioso N, Fraser R: Evidence of coexisting changes in 11β-hydroxysteroid dehydrogenase and 5α-reductase activity in patients with untreated essential hypertension. Hypertension 1995, 25:67-70.
28. Watson B, Bergman SM, Myracle A, Callen DF, Acton RT, Warnock DG: Genetic association of 11β-hydroxysteroid dehydrogenase type 2 (HSD11B2) flanking microsatellites with essential hypertension in blacks. Hypertension 1996, 28:478-482.