메뉴 건너뛰기




Volumn 135, Issue 2, 1996, Pages 238-244

11β-Hydroxysteroid dehydrogenase deficit: A rare cause of arterial hypertension. Diagnosis and therapeutic approach in two young brothers

Author keywords

[No Author keywords available]

Indexed keywords

11BETA HYDROXYSTEROID DEHYDROGENASE; DEXAMETHASONE; SPIRONOLACTONE; TETRACOSACTIDE; TETRAHYDROCORTICOSTERONE; TETRAHYDROCORTISOL; TETRAHYDROCORTISONE; UNCLASSIFIED DRUG;

EID: 0029790677     PISSN: 08044643     EISSN: None     Source Type: Journal    
DOI: 10.1530/eje.0.1350238     Document Type: Article
Times cited : (12)

References (50)
  • 1
    • 0017711792 scopus 로고
    • Evidence for an unidentified steroid in a child with apparent mineralocorticoid hypertension
    • New MI, Levine LS, Biglieri EG, Pariera J, Ulick S. Evidence for an unidentified steroid in a child with apparent mineralocorticoid hypertension. J Clin Endocrinol 1977;44:924-33
    • (1977) J Clin Endocrinol , vol.44 , pp. 924-933
    • New, M.I.1    Levine, L.S.2    Biglieri, E.G.3    Pariera, J.4    Ulick, S.5
  • 2
    • 0018598286 scopus 로고
    • A syndrome of apparent mineralocorticoid excess associated with defects in the peripheral metabolism of cortisol
    • Ulick S, Levine LS, 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;49:757-64
    • (1979) J Clin Endocrinol Metab , vol.49 , pp. 757-764
    • Ulick, S.1    Levine, L.S.2    Gunczler, P.3    Zanconato, G.4    Ramirez, L.C.5    Rauh, W.6
  • 3
    • 0023572392 scopus 로고
    • Equivalent affinity of aldosterone and corticosterone for type I receptor in kidney and hippocampus direct binding studies
    • Sheppard KE, Funder HJW. Equivalent affinity of aldosterone and corticosterone for type I receptor in kidney and hippocampus direct binding studies. J Steroid Biochem 1987;28:737-42
    • (1987) J Steroid Biochem , vol.28 , pp. 737-742
    • Sheppard, K.E.1    Funder, H.J.W.2
  • 4
    • 0023221667 scopus 로고
    • Cloning of human mineralocorticoid receptor complementary DNA: Structural and functional kindship with the glucocorticoid receptor
    • Arriza JL, Weinberger C, Cerelli G, Glaser TM, Handelin B, Housman DE, et al. Cloning of human mineralocorticoid receptor complementary DNA: structural and functional kindship with the glucocorticoid receptor. Science 1987;237:268-75
    • (1987) Science , vol.237 , pp. 268-275
    • Arriza, J.L.1    Weinberger, C.2    Cerelli, G.3    Glaser, T.M.4    Handelin, B.5    Housman, D.E.6
  • 5
    • 0022489562 scopus 로고
    • The syndrome of apparent mineralocorticoid excess: Its association with 11β-dehydrogenase and 5β-reductase deficiency and some consequences for corticosteroid metabolism
    • Monder C, Shakleton CHL, Bradlow HL, New MI, Stoner E, Iohan F, et al. The syndrome of apparent mineralocorticoid excess: its association with 11β-dehydrogenase and 5β-reductase deficiency and some consequences for corticosteroid metabolism. J Clin Endocrinol Metab 1986;63:550-7
    • (1986) J Clin Endocrinol Metab , vol.63 , pp. 550-557
    • Monder, C.1    Shakleton, C.H.L.2    Bradlow, H.L.3    New, M.I.4    Stoner, E.5    Iohan, F.6
  • 6
    • 0016332341 scopus 로고
    • A direct determination of plasma aldosterone
    • Pham-Huu-Trung MT, Corvol P. A direct determination of plasma aldosterone. Steroid 1974;24:587-98
    • (1974) Steroid , vol.24 , pp. 587-598
    • Pham-Huu-Trung, M.T.1    Corvol, P.2
  • 7
    • 0028574206 scopus 로고
    • Hirsutism and acne in women: Coordinated radioimmunoassays for eight relevant plasma steroid
    • Fiet J, Gosling JP, Soliman H, Galons H, Boudou Ph, Aubin Ph, et al. Hirsutism and acne in women: coordinated radioimmunoassays for eight relevant plasma steroid. Clin Chem 1994;40:2296-305
    • (1994) Clin Chem , vol.40 , pp. 2296-2305
    • Fiet, J.1    Gosling, J.P.2    Soliman, H.3    Galons, H.4    Boudou, Ph.5    Aubin, Ph.6
  • 9
    • 0014584257 scopus 로고
    • Application of a radioimmunoassay for angiotensin 1 to the physiologic measurements of plasma renin activity in normal subjects
    • Haber E, Koerner T, Page LB. Application of a radioimmunoassay for angiotensin 1 to the physiologic measurements of plasma renin activity in normal subjects. J Clin Endocrinol 1969;19: 1349-55
    • (1969) J Clin Endocrinol , vol.19 , pp. 1349-1355
    • Haber, E.1    Koerner, T.2    Page, L.B.3
  • 11
    • 0014541509 scopus 로고
    • Conversion of steroids to trimethyl derivatives for gas phase analytical studies: Reactions of silytating reagents
    • Chambaz EM, Horning EC. Conversion of steroids to trimethyl derivatives for gas phase analytical studies: reactions of silytating reagents Anal Biochem 1969;30:7-24
    • (1969) Anal Biochem , vol.30 , pp. 7-24
    • Chambaz, E.M.1    Horning, E.C.2
  • 12
    • 9444286554 scopus 로고
    • Determination par Chromatographie gaz-liquide sur colonnes capillaires en verre å haute performance des stéroides urinaires
    • Lavoué G, editor. Lab. France Paris
    • Chebroux P, Rigaud M, Soustre A, Breton JC. Determination par Chromatographie gaz-liquide sur colonnes capillaires en verre å haute performance des stéroides urinaires. In: Lavoué G, editor. Les nouvelles dimensions de la Chromatographie en phase gazeuse. Lab. France Paris, 1982
    • (1982) Les Nouvelles Dimensions de la Chromatographie en Phase Gazeuse
    • Chebroux, P.1    Rigaud, M.2    Soustre, A.3    Breton, J.C.4
  • 15
    • 0026585716 scopus 로고
    • Defective ring A reduction of cortisol as the major metabolic error in the syndrome of apparent mineralocorticoid excess
    • Ulick S, Tedde R, Wang JZ. Defective ring A reduction of cortisol as the major metabolic error in the syndrome of apparent mineralocorticoid excess. J Clin Endocrinol Metab 1992;74:593-9
    • (1992) J Clin Endocrinol Metab , vol.74 , pp. 593-599
    • Ulick, S.1    Tedde, R.2    Wang, J.Z.3
  • 16
    • 0029160972 scopus 로고
    • Human hypertension caused by mutations in the kidney isoenzyme of 11β-hydroxysteroid dehydrogenase
    • Mune T, Rogerson FM, Nikkilä H, Agarwal AK, White PC. Human hypertension caused by mutations in the kidney isoenzyme of 11β-hydroxysteroid dehydrogenase. Nature Genet 1995;10: 394-9
    • (1995) Nature Genet , vol.10 , pp. 394-399
    • Mune, T.1    Rogerson, F.M.2    Nikkilä, H.3    Agarwal, A.K.4    White, P.C.5
  • 17
    • 0027444885 scopus 로고
    • Defects in the HSD gene encoding 11β-hydroxysteroid dehydrogenase are not found in patients with apparent mineralocorticoid excess or 11-oxoreductase deficiency
    • Nikkilä H, Tannin GM, New MI, Taylor NF, Kalaitzoglou G, Monder C, et al. Defects in the HSD gene encoding 11β-hydroxysteroid dehydrogenase are not found in patients with apparent mineralocorticoid excess or 11-oxoreductase deficiency. J Clin Endocrinol Metab 1993;77:687-91
    • (1993) J Clin Endocrinol Metab , vol.77 , pp. 687-691
    • Nikkilä, H.1    Tannin, G.M.2    New, M.I.3    Taylor, N.F.4    Kalaitzoglou, G.5    Monder, C.6
  • 18
    • 0028169395 scopus 로고
    • Human kidney 11β-hydroxysteroid dehydrogenase is a high affinity nicotinamide adenine dinucleotide dependent enzyme and differs from the cloned type I isoform
    • Stewart PM, Murry BA, Mason JI. Human kidney 11β-hydroxysteroid dehydrogenase is a high affinity nicotinamide adenine dinucleotide dependent enzyme and differs from the cloned type I isoform. J Clin Endocrinol Metab 1994;79:480-4
    • (1994) J Clin Endocrinol Metab , vol.79 , pp. 480-484
    • Stewart, P.M.1    Murry, B.A.2    Mason, J.I.3
  • 19
    • 0029126696 scopus 로고
    • Localisation of the gene for human 11β hydroxysteroid dehydrogenase type 2 (HSD11β2) to chromosome band 16q22
    • Krozowski Z, Baker E, Obeyesekere V, Callen DF. Localisation of the gene for human 11β hydroxysteroid dehydrogenase type 2 (HSD11β2) to chromosome band 16q22. Cytogenet Cell Genet 1995;71:124-5
    • (1995) Cytogenet Cell Genet , vol.71 , pp. 124-125
    • Krozowski, Z.1    Baker, E.2    Obeyesekere, V.3    Callen, D.F.4
  • 20
    • 0029598448 scopus 로고
    • Analysis of the human gene encoding the kidney isoenzyme of 11β hydroxysteroid dehydrogenase
    • Agarwal AK, Rogerson FM, Mune T, White PC. Analysis of the human gene encoding the kidney isoenzyme of 11β hydroxysteroid dehydrogenase. J Steroid Biochem Mol Biol 1995;55:473-9
    • (1995) J Steroid Biochem Mol Biol , vol.55 , pp. 473-479
    • Agarwal, A.K.1    Rogerson, F.M.2    Mune, T.3    White, P.C.4
  • 22
    • 0028785017 scopus 로고
    • Several homozygous mutations in the gene for 11β hydroxysteroid dehydrogenase type 2 in patients with apparent mineralocorticoid excess
    • 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;80:3145-50
    • (1995) J Clin Endocrinol Metab , vol.80 , pp. 3145-3150
    • Wilson, R.C.1    Harbison, M.D.2    Krozowski, Z.S.3    Funder, J.W.4    Shackleton, C.H.L.5    Hanauske-Abel, H.M.6
  • 23
    • 0028856350 scopus 로고
    • The R337C mutation generates a high Km 11β hydroxysteroid dehydrogenase type II enzyme in a family with apparent mineralocorticoid excess
    • Obeyesekere VR, Ferrari P, Andrews RK, Wilson RC, New MI. The R337C mutation generates a high Km 11β hydroxysteroid dehydrogenase type II enzyme in a family with apparent mineralocorticoid excess. J Clin Endocrinol Metab 1995;80: 3381-3
    • (1995) J Clin Endocrinol Metab , vol.80 , pp. 3381-3383
    • Obeyesekere, V.R.1    Ferrari, P.2    Andrews, R.K.3    Wilson, R.C.4    New, M.I.5
  • 24
    • 0017600677 scopus 로고
    • An abnormality in steroid reductive metabolism in a hypertensive syndrome
    • Ulick S, Ramirez LC, New MI. An abnormality in steroid reductive metabolism in a hypertensive syndrome. J Clin Endocrinol Metab 1977;44:799-802
    • (1977) J Clin Endocrinol Metab , vol.44 , pp. 799-802
    • Ulick, S.1    Ramirez, L.C.2    New, M.I.3
  • 25
    • 0025136771 scopus 로고
    • Pathogenesis of the type 2 variant of the syndrome of apparent mineralocorticoid excess
    • Ulick S, Tedde R, Mantero F. Pathogenesis of the type 2 variant of the syndrome of apparent mineralocorticoid excess. J Clin Endocrinol Metab 1990;70:200-6
    • (1990) J Clin Endocrinol Metab , vol.70 , pp. 200-206
    • Ulick, S.1    Tedde, R.2    Mantero, F.3
  • 26
    • 0028373673 scopus 로고
    • Apparent mineralocorticoid excess: A personal history
    • New Mi. Apparent mineralocorticoid excess: a personal history. Steroids 1994;59:66-8
    • (1994) Steroids , vol.59 , pp. 66-68
    • New, M.I.1
  • 27
    • 0020658534 scopus 로고
    • Metabolic and blood pressure responses to hydrocortisone in the syndrome of apparent mineralocorticoid excess
    • Oberfield SE, Levine LS, Carey RM, Greig F, Ulick S, New MI. Metabolic and blood pressure responses to hydrocortisone in the syndrome of apparent mineralocorticoid excess. J Clin Endocrinol Metab 1983;56:332-9
    • (1983) J Clin Endocrinol Metab , vol.56 , pp. 332-339
    • Oberfield, S.E.1    Levine, L.S.2    Carey, R.M.3    Greig, F.4    Ulick, S.5    New, M.I.6
  • 28
    • 0027209953 scopus 로고
    • Investigation of the mechanism of hypertension in apparent mineralocorticoid excess
    • Speiser PW, Riddick LM, Martin K, New MI. Investigation of the mechanism of hypertension in apparent mineralocorticoid excess. Metabolism 1993;42:843-5
    • (1993) Metabolism , vol.42 , pp. 843-845
    • Speiser, P.W.1    Riddick, L.M.2    Martin, K.3    New, M.I.4
  • 29
    • 7844249459 scopus 로고
    • A syndrome of low-renin hypertension in children
    • New MI, Levine LS, editors
    • Winter JSD. A syndrome of low-renin hypertension in children. In: New MI, Levine LS, editors. Juvenile hypertension. 1977; 123-33
    • (1977) Juvenile Hypertension , pp. 123-133
    • Winter, J.S.D.1
  • 30
    • 0021883201 scopus 로고
    • Congenital 11β hydroxysteroid dehydrogenase deficiency associated with juvenile hypertension: Corticosteroid metabolites profiles of four patients and their families
    • Shackleton CHL, Rodriguez J, Arteaga E, Lopez JM, Winter JSD. Congenital 11β hydroxysteroid dehydrogenase deficiency associated with juvenile hypertension: corticosteroid metabolites profiles of four patients and their families. Clin Endocrinol 1985;22:701-12
    • (1985) Clin Endocrinol , vol.22 , pp. 701-712
    • Shackleton, C.H.L.1    Rodriguez, J.2    Arteaga, E.3    Lopez, J.M.4    Winter, J.S.D.5
  • 31
    • 0029095135 scopus 로고
    • Mineralocorticoid hypertension and congenital deficiency of 11β hydroxysteroid dehydrogenase in a family with the syndrome of "apparent" mineralocorticoid excess
    • Milford DV, Shackeleton CHL, Stewart PM. Mineralocorticoid hypertension and congenital deficiency of 11β hydroxysteroid dehydrogenase in a family with the syndrome of "apparent" mineralocorticoid excess. Clin Endocrinol 1994;43:241-6
    • (1994) Clin Endocrinol , vol.43 , pp. 241-246
    • Milford, D.V.1    Shackeleton, C.H.L.2    Stewart, P.M.3
  • 35
    • 0027742529 scopus 로고
    • Steroid hormones and hypertension: The cortisol-cortisone shuttle
    • Stewart PM, Whorwood CB, Walker BR. Steroid hormones and hypertension: the cortisol-cortisone shuttle. Steroids 1993; 58:614-20
    • (1993) Steroids , vol.58 , pp. 614-620
    • Stewart, P.M.1    Whorwood, C.B.2    Walker, B.R.3
  • 38
    • 85047677780 scopus 로고
    • Fatal, low-renin hypertension associated with a disturbance of cortisol metabolism
    • Honour JW, Dillon MJ, Levin M, Shah V. Fatal, low-renin hypertension associated with a disturbance of cortisol metabolism. Arch Dis Child 1983;58:1018-20
    • (1983) Arch Dis Child , vol.58 , pp. 1018-1020
    • Honour, J.W.1    Dillon, M.J.2    Levin, M.3    Shah, V.4
  • 39
    • 0021679173 scopus 로고
    • Apparent mineralocorticoid excess and deficient 11β oxidation of cortisol in a young female
    • Harinck HIJ, Van Brummelen P, Van Seters AP, Moolenaar AJ. Apparent mineralocorticoid excess and deficient 11β oxidation of cortisol in a young female. Clin Endocrinol 1984;21:505-14
    • (1984) Clin Endocrinol , vol.21 , pp. 505-514
    • Harinck, H.I.J.1    Van Brummelen, P.2    Van Seters, A.P.3    Moolenaar, A.J.4
  • 41
    • 0023002861 scopus 로고
    • Spironolactone-reversible rickets associated with 11β hydroxysteroid dehydrogenase deficiency syndrome
    • Batista MC, Mendonça BB, Kater CE, Arnhold IJP, Rocha A, Nicolau W, et al. Spironolactone-reversible rickets associated with 11β hydroxysteroid dehydrogenase deficiency syndrome. J Pediatr 1986;109:989-93
    • (1986) J Pediatr , vol.109 , pp. 989-993
    • Batista, M.C.1    Mendonça, B.B.2    Kater, C.E.3    Arnhold, I.J.P.4    Rocha, A.5    Nicolau, W.6
  • 43
    • 0029670759 scopus 로고    scopus 로고
    • Apparent mineralocorticoid excess due to 11β hydroxysteroid dehydrogenase deficiency: A possible cause of intrauterine growth retardation
    • Kitanaka S, Tanae A, Hibi I. Apparent mineralocorticoid excess due to 11β hydroxysteroid dehydrogenase deficiency: a possible cause of intrauterine growth retardation. Clin Endocrinol 1996;44:353-9
    • (1996) Clin Endocrinol , vol.44 , pp. 353-359
    • Kitanaka, S.1    Tanae, A.2    Hibi, I.3
  • 44
    • 0018617071 scopus 로고
    • Studies on the metabolic abnormality of cortisol and corticosterone in a case of dexamethasone responsive mineralocorticoid excess
    • in Japanese
    • Igarashi Y, Egi S, Takehiro A, Ohzeki T, Kawaguchi H. Studies on the metabolic abnormality of cortisol and corticosterone in a case of dexamethasone responsive mineralocorticoid excess. Folia Endocrinol Jpn 1979;55:1341-57 (in Japanese)
    • (1979) Folia Endocrinol Jpn , vol.55 , pp. 1341-1357
    • Igarashi, Y.1    Egi, S.2    Takehiro, A.3    Ohzeki, T.4    Kawaguchi, H.5
  • 45
    • 9444222113 scopus 로고
    • Déficit en 11β hydroxysteroide deshydrogénase à l'origine d'une HTA sévère chez 2 frères
    • Gourmelen M, Saint-Jacques I, Julien R. Déficit en 11β hydroxysteroide deshydrogénase à l'origine d'une HTA sévère chez 2 frères [abstract]. Ann Endocrinol Suppl 1993;144:123
    • (1993) Ann Endocrinol Suppl , vol.144 , pp. 123
    • Gourmelen, M.1    Saint-Jacques, I.2    Julien, R.3
  • 47
    • 0001002616 scopus 로고
    • The hypertension of apparent mineralocorticoid excess (AME) syndrome
    • Biglieri EG, Melby JC, editors
    • Shackleton CHL, Stewart PM. The hypertension of apparent mineralocorticoid excess (AME) syndrome. In: Biglieri EG, Melby JC, editors. Endocrine hypertension. 1990;155-73
    • (1990) Endocrine Hypertension , pp. 155-173
    • Shackleton, C.H.L.1    Stewart, P.M.2
  • 49
    • 0026767928 scopus 로고
    • Evidence for cortisol as the mineralocorticoid in the syndrome of apparent mineralocorticoid excess
    • Tedde R, Pala A, Melis A, Ulick S. Evidence for cortisol as the mineralocorticoid in the syndrome of apparent mineralocorticoid excess. J Endorcrinol Invest 1992;15:471-4
    • (1992) J Endorcrinol Invest , vol.15 , pp. 471-474
    • Tedde, R.1    Pala, A.2    Melis, A.3    Ulick, S.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.