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Volumn 39, Issue 3, 1996, Pages 554-560

Congenital hypoaldosteronism: The Visser-Cost syndrome revisited

Author keywords

[No Author keywords available]

Indexed keywords

ALDOSTERONE;

EID: 0030067680     PISSN: 00313998     EISSN: None     Source Type: Journal    
DOI: 10.1203/00006450-199603000-00027     Document Type: Article
Times cited : (12)

References (36)
  • 3
    • 0000375569 scopus 로고
    • A new hereditary defect in the biosynthesis of aldosterone: Urinary C21-corticosteroid pattern in three related patients with a salt-losing syndrome, suggesting an 18-oxidation defect
    • Visser HKA, Cost WS 1964 A new hereditary defect in the biosynthesis of aldosterone: urinary C21-corticosteroid pattern in three related patients with a salt-losing syndrome, suggesting an 18-oxidation defect. Acta Endocrinol 47:589-612
    • (1964) Acta Endocrinol , vol.47 , pp. 589-612
    • Visser, H.K.A.1    Cost, W.S.2
  • 4
    • 2342642582 scopus 로고
    • Further investigations of a new hereditary defect in the biosynthesis of aldosterone: Evidence for a defect in the 18-hydroxylation of corticosterone
    • Degenhart HJ, Frankena L, Visser HKA, Cost WS, Van Setters AP 1966 Further investigations of a new hereditary defect in the biosynthesis of aldosterone: evidence for a defect in the 18-hydroxylation of corticosterone. Acta Physiol Pharmacol Neerl 14:88-89
    • (1966) Acta Physiol Pharmacol Neerl , vol.14 , pp. 88-89
    • Degenhart, H.J.1    Frankena, L.2    Visser, H.K.A.3    Cost, W.S.4    Van Setters, A.P.5
  • 6
    • 17444433842 scopus 로고
    • Hypoaldostéronisme congénital familial par défaut de la 18-OH-déhydrogénase
    • Rappaport R, Dray F, Legrand JC, Royer P 1968 Hypoaldostéronisme congénital familial par défaut de la 18-OH-déhydrogénase. Pediatr Res 2:456-463
    • (1968) Pediatr Res , vol.2 , pp. 456-463
    • Rappaport, R.1    Dray, F.2    Legrand, J.C.3    Royer, P.4
  • 7
    • 0017112177 scopus 로고
    • Diagnosis and nomenclature of the disorders of the terminal portion of the aldosterone biosynthetic pathway
    • Ulick S 1976 Diagnosis and nomenclature of the disorders of the terminal portion of the aldosterone biosynthetic pathway. J Clin Endocrinol Metab 43:92-96
    • (1976) J Clin Endocrinol Metab , vol.43 , pp. 92-96
    • Ulick, S.1
  • 8
    • 0019615526 scopus 로고
    • Isolated aldosterone deficiency in man: Acquired and inborn errors in the biosynthesis or action of aldosterone
    • Veldhuis JD, Melby JC 1981 Isolated aldosterone deficiency in man: acquired and inborn errors in the biosynthesis or action of aldosterone. Endocr Rev 2:495-517
    • (1981) Endocr Rev , vol.2 , pp. 495-517
    • Veldhuis, J.D.1    Melby, J.C.2
  • 9
    • 0021223924 scopus 로고
    • The natural history of salt-wasting disorders of adrenal origin
    • Rösler A 1984 The natural history of salt-wasting disorders of adrenal origin. J Clin Endocrinol Metab 59:689-700
    • (1984) J Clin Endocrinol Metab , vol.59 , pp. 689-700
    • Rösler, A.1
  • 10
    • 0011185964 scopus 로고
    • Selective defects in the biosynthesis of aldosterone
    • New MI, Levine LS, Laron Z (eds) Karger, Basel
    • Ulick S 1984 Selective defects in the biosynthesis of aldosterone. In: New MI, Levine LS, Laron Z (eds) Adrenal Diseases in Childhood, Vol. 13. Karger, Basel, pp 145-155
    • (1984) Adrenal Diseases in Childhood , vol.13 , pp. 145-155
    • Ulick, S.1
  • 12
    • 0024842845 scopus 로고
    • Characterization of two genes encoding human steroid 11β-hydroxylase (P45011β)
    • Mornet E, Dupont J, Vitek A, White PC 1989 Characterization of two genes encoding human steroid 11β-hydroxylase (P45011β). J Biol Chem 264:20961-20967
    • (1989) J Biol Chem , vol.264 , pp. 20961-20967
    • Mornet, E.1    Dupont, J.2    Vitek, A.3    White, P.C.4
  • 15
    • 0026771282 scopus 로고
    • Mutations in the human CYP11B2 (aldosterone synthase) gene causing corticosterone methyl oxidase II deficiency
    • Pascoe L, Cumow KM, Slutsker L, Rösler A, White PC 1992 Mutations in the human CYP11B2 (aldosterone synthase) gene causing corticosterone methyl oxidase II deficiency. Proc Natl Acad Sci USA 89:4996-5000
    • (1992) Proc Natl Acad Sci USA , vol.89 , pp. 4996-5000
    • Pascoe, L.1    Cumow, K.M.2    Slutsker, L.3    Rösler, A.4    White, P.C.5
  • 18
    • 0017796729 scopus 로고
    • Simultaneous radioimmunoassay of plasma aldosterone, corticosterone, 11-deoxycorticosterone, progesterone, 17-hydroxyprogesterone, 11-deoxycortisol, cortisol and cortisone
    • Sippell WG, Bidlingmaier F, Becker H, Brünig T, Dörr HG, Hahn H, Golder W, Hollmann G, Knorr D 1978 Simultaneous radioimmunoassay of plasma aldosterone, corticosterone, 11-deoxycorticosterone, progesterone, 17-hydroxyprogesterone, 11-deoxycortisol, cortisol and cortisone. J Steroid Biochem 9:63-74
    • (1978) J Steroid Biochem , vol.9 , pp. 63-74
    • Sippell, W.G.1    Bidlingmaier, F.2    Becker, H.3    Brünig, T.4    Dörr, H.G.5    Hahn, H.6    Golder, W.7    Hollmann, G.8    Knorr, D.9
  • 19
    • 0016799514 scopus 로고
    • Automation of multiple Sephadex LH-20 column chromatography for the simultaneous separation of plasma corticosteroids
    • Sippell WG, Lehmann P, Hollmann G 1975 Automation of multiple Sephadex LH-20 column chromatography for the simultaneous separation of plasma corticosteroids. J Chromatogr 108:305-312
    • (1975) J Chromatogr , vol.108 , pp. 305-312
    • Sippell, W.G.1    Lehmann, P.2    Hollmann, G.3
  • 20
    • 0018913182 scopus 로고
    • Plasma levels of aldosterone, corticosterone, 11-deoxycorticosterone, progesterone, 17-hydroxyprogesterone, cortisol, and cortisone during infancy and childhood
    • Sippell WG, Dorr HG, Bidlingmaier F, Knorr D 1980 Plasma levels of aldosterone, corticosterone, 11-deoxycorticosterone, progesterone, 17-hydroxyprogesterone, cortisol, and cortisone during infancy and childhood. Pediatr Res 14:39-46
    • (1980) Pediatr Res , vol.14 , pp. 39-46
    • Sippell, W.G.1    Dorr, H.G.2    Bidlingmaier, F.3    Knorr, D.4
  • 21
    • 0019480690 scopus 로고
    • Effects of short-term ACTH stimulation on plasma levels of 8 corticosteroids and progestins in normal men and women
    • Dorr HG, Sippell WG, Höller W, Bidlingmaier F, Knorr D 1981 Effects of short-term ACTH stimulation on plasma levels of 8 corticosteroids and progestins in normal men and women. Acta Endocrinol 240(suppl):54-55
    • (1981) Acta Endocrinol , vol.240 , Issue.SUPPL. , pp. 54-55
    • Dorr, H.G.1    Sippell, W.G.2    Höller, W.3    Bidlingmaier, F.4    Knorr, D.5
  • 22
    • 0014254149 scopus 로고
    • Familial aldosterone deficiency: Enzyme defect, diagnosis, and clinical course
    • David R, Golan S, Drucker W 1968 Familial aldosterone deficiency: enzyme defect, diagnosis, and clinical course. Pediatrics 41:403-412
    • (1968) Pediatrics , vol.41 , pp. 403-412
    • David, R.1    Golan, S.2    Drucker, W.3
  • 23
    • 0017169207 scopus 로고
    • Hypoaldosteronism in three siblings due to 18-dehydrogenase deficiency
    • Hamilton W, McCandless AE, Ireland JT, Gray CE 1976 Hypoaldosteronism in three siblings due to 18-dehydrogenase deficiency. Arch Dis Child 51:576-583
    • (1976) Arch Dis Child , vol.51 , pp. 576-583
    • Hamilton, W.1    McCandless, A.E.2    Ireland, J.T.3    Gray, C.E.4
  • 24
    • 0017754606 scopus 로고
    • Salt-losing syndrome in 2 infants with defective 18-dehydrogenation in aldosterone biosynthesis
    • Milla PJ, Trompeter R, Dillon MJ, Robbins D, Shackelton C 1977 Salt-losing syndrome in 2 infants with defective 18-dehydrogenation in aldosterone biosynthesis. Arch Dis Child 52:580-586
    • (1977) Arch Dis Child , vol.52 , pp. 580-586
    • Milla, P.J.1    Trompeter, R.2    Dillon, M.J.3    Robbins, D.4    Shackelton, C.5
  • 27
    • 0021665549 scopus 로고
    • Type 2 corticosterone methyloxidase defect in a 2-year-old Iranian Jewish child
    • Buchta RM 1984 Type 2 corticosterone methyloxidase defect in a 2-year-old Iranian Jewish child. Am J Dis Child 138:1154
    • (1984) Am J Dis Child , vol.138 , pp. 1154
    • Buchta, R.M.1
  • 28
    • 0022657306 scopus 로고
    • Biochemical diagnosis and management of corticosterone methyl oxidase type II deficiency
    • Lee PDK, Patterson BD, Hintz RL, Rosenfeld RG 1986 Biochemical diagnosis and management of corticosterone methyl oxidase type II deficiency. J Clin Endocrinol Metab 62:225-229
    • (1986) J Clin Endocrinol Metab , vol.62 , pp. 225-229
    • Lee, P.D.K.1    Patterson, B.D.2    Hintz, R.L.3    Rosenfeld, R.G.4
  • 29
    • 0026097517 scopus 로고
    • Severe hypoaldosteronism due to corticosterone methyl oxidase type II deficiency in two boys: Metabolic and gas chromatography-mass spectrometry studies
    • Hauffa BP, Sólyom J, Gláz E, Shackleton CH, Wambach G, Vecsei P, Stolecke H, Homoki J 1991 Severe hypoaldosteronism due to corticosterone methyl oxidase type II deficiency in two boys: metabolic and gas chromatography-mass spectrometry studies. Eur J Pediatr 150:149-153
    • (1991) Eur J Pediatr , vol.150 , pp. 149-153
    • Hauffa, B.P.1    Sólyom, J.2    Gláz, E.3    Shackleton, C.H.4    Wambach, G.5    Vecsei, P.6    Stolecke, H.7    Homoki, J.8
  • 30
    • 0026547634 scopus 로고
    • Corticosterone methyl oxidase type II deficiency: A cause of failure to thrive and recurrent dehydration in early infancy
    • Picco P, Garibaldi L, Cotellessa M, DiRocco M, Borrone C 1992 Corticosterone methyl oxidase type II deficiency: a cause of failure to thrive and recurrent dehydration in early infancy. Eur J Pediatr 151:170-173
    • (1992) Eur J Pediatr , vol.151 , pp. 170-173
    • Picco, P.1    Garibaldi, L.2    Cotellessa, M.3    DiRocco, M.4    Borrone, C.5
  • 31
    • 0026703632 scopus 로고
    • The biochemical phenotypes of two inborn errors in the biosynthesis of aldosterone
    • Ulick S, Wang JZ, Motion DH 1992 The biochemical phenotypes of two inborn errors in the biosynthesis of aldosterone. J Clin Endocrinol Metab 72:1415-1420
    • (1992) J Clin Endocrinol Metab , vol.72 , pp. 1415-1420
    • Ulick, S.1    Wang, J.Z.2    Motion, D.H.3
  • 33
    • 0024449726 scopus 로고
    • Purification and characterization of two distinct forms of rat adrenal cytochrome P450(11)beta: Functional and structural aspects
    • Lauber M, Müller J 1989 Purification and characterization of two distinct forms of rat adrenal cytochrome P450(11)beta: functional and structural aspects. Arch Biochem Biophys 274:109-119
    • (1989) Arch Biochem Biophys , vol.274 , pp. 109-119
    • Lauber, M.1    Müller, J.2
  • 34
    • 0026748962 scopus 로고
    • Zone specific expression of aldosterone synthase cytochrome P-450 and cytochrome P-45011 beta in rat adrenal cortex: Histochemical basis for the functional zonation
    • Ogishima T, Suzuki H, Hata J, Mitani F, Ishimura Y 1992 Zone specific expression of aldosterone synthase cytochrome P-450 and cytochrome P-45011 beta in rat adrenal cortex: histochemical basis for the functional zonation. Endocrinology 130:2971-2977
    • (1992) Endocrinology , vol.130 , pp. 2971-2977
    • Ogishima, T.1    Suzuki, H.2    Hata, J.3    Mitani, F.4    Ishimura, Y.5
  • 35
    • 0028167769 scopus 로고
    • Disorders of Steroid 11β-hydoxylase isoenzymes
    • White PC, Curnow KM, Pascoe L 1994 Disorders of Steroid 11β-hydoxylase isoenzymes. Endocr Rev 15:421-438
    • (1994) Endocr Rev , vol.15 , pp. 421-438
    • White, P.C.1    Curnow, K.M.2    Pascoe, L.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.