Genetic, biochemical, and clinical studies of patients with A328V or R213C mutations in 11βHSD2 causing apparent mineralocorticoid excess

Hypertension

Volumn 34, Issue 3, 1999, Pages 435-441

  Morineau, Gilles ^f   Marc, Jean Michel ^a   Boudi, Ahmed ^b   Galons, Herve ^b   Gourmelen, Micheline ^c   Corvol, Pierre ^d   Pascoe, Leigh ^e   Fiet, Jean ^b  

^a CHG   (France)

^b Faculte de Pharmacie   (France)

^c ARMAND TROUSSEAU HOSPITAL   (France)

^d Centre de Recherche Interdisciplinaire en Biologie   (France)

^e FONDATION JEAN DAUSSET CEPH   (France)

^f SAINT LOUIS HOSPITAL   (France)

Author keywords

Hemodialysis; Hydroxysteroid; Hypertension, genetic; Mutation; Tetrahydrocortisone

Indexed keywords

CORTISONE; HYDROCORTISONE; HYDROXYSTEROID; MINERALOCORTICOID; TETRAHYDROCORTISONE;

ARTICLE; CASE REPORT; CHRONIC KIDNEY FAILURE; FEMALE; GAS CHROMATOGRAPHY; GENE MUTATION; GENETIC RISK; HEMODIALYSIS; HOMOZYGOTE; HUMAN; HYDROCORTISONE BLOOD LEVEL; HYPERTENSION; MALE; PRIORITY JOURNAL; SODIUM BALANCE;

EID: 0032886113     PISSN: 0194911X     EISSN: None     Source Type: Journal    
DOI: 10.1161/01.HYP.34.3.435     Document Type: Article

References (30)

1. New MI, Levine LS, Biglieri EG, Pareira J, Ulick S. Evidence for an unidentified steroid in a child with apparent mineralocorticoid hypertension. J Clin Endocrinol Metab. 1977;44:924-933.
2. Ulick S, Levine LS, Gunczler P, Zanconato G, Ramirez LC, Rauh W, Rosler A, Bradlow HL, New MI. A syndrome of apparent mineralocorticoid excess associated with defects in the peripheral metabolism of cortisol. J Clin Endocrinol Metab. 1979;49:757-764.
3. Shackleton CH, Rodriguez, J, Arteaga E, Lopez JM, Winter JS. Congenital 11β-hydroxysteroid dehydrogenase deficiency associated with juvenile hypertension: corticosteroid metabolite profiles of four patients and their families. Clin Endocrinol (Oxf). 1985;22:701-712.
4. Wilson RC, Krozowski ZS, Li K, Obeyesekere VR, Razzaghy-Azar M, Harbison MD, Wei JQ, Shackleton CH, Funder JW, New MI. A mutation in the HSD11B2 gene in a family with apparent mineralocorticoid excess. J Clin Endocrinol Metab. 1995;80:2263-2266.
5. Mune T, Rogerson FM, Nikkila H, Agarwal AK, White PC. Human hypertension caused by mutations in the kidney isozyme of 11-βhydroxysteroid dehydrogenase. Nat Genet. 1995;10:394-399.
6. Kenouch S, Alfaidy N, Bonvalet JP, Farman N. Expression of 11β-OHSD along the nephron of mammals and humans. Steroids. 1994;59:100-104.
7. Krozowski ZS, Funder JW. Renal mineralocorticoid receptors and hippocampal corticosterone-binding species have identical intrinsic steroid specificity. Proc Natl Acad Sci U S A. 1983;80:6056-6060.
8. Ulick S, Ramirez LC, New MI. An abnormality in steroid reductive metabolism in a hypertensive syndrome. J Clin Endocrinol Metab. 1977; 44:799-802.
9. Monder C, Shackleton CH, Bradlow HL, New MI, Stoner E, Iohan F, Lakshmi V. 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;63:550-557.
10. Li A, Tedde R, Krozowski ZS, Pala A, Li KX, Shackleton CH, Mantero F, Palermo M, Stewart PM. Molecular basis for hypertension in the 'type II variant' of apparent mineralocorticoid excess. Am J Hum Genet. 1998; 63:370-379.
11. Ulick S, Chan CK, Rao KN, Edassery J, Mantero F. A new form of the syndrome of apparent mineralocorticoid excess. J Steroid Biochem. 1989; 32:209-212.
12. 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;74:593-599.
13. Gourmelen M, Saint-Jacques I, Morineau G, Soliman H, Julien R, Fiet J. 11β-Hydroxysteroid dehydrogenase deficit: a rare cause of arterial hypertension: diagnosis and therapeutic approach in two young brothers. Eur J Endocrinol. 1996;135:238-244.
14. Sann L, Revol A, Zachmann M, Legrand JC, Bethenod M. Unusual low plasma renin hypertension in a child. J Clin Endocrinol Metab. 1976;43: 265-271.
15. Morineau G, Pascoe L, Krozowski ZS. Mutations R213C et A328V du gène de la 11β-HSD2 responsables du syndrome d'excès apparent de minéralocorticoïdes. Ann Endocrinol. 1997;58:2S-128. Abstract.
16. Curnow KM, Slutsker L, Vitek J, Cole T, Speiser PW, New MI, White PC, Pascoe L. Mutations in the CYP11B1 gene causing congenital adrenal hyperplasia and hypertension cluster in exons 6, 7, and 8. Proc Natl Acad Sci U S A. 1993;90:4552-4556.
17. Cheng S, Fockler C, Barnes WM, Higuchi R. Effective amplification of long targets from cloned inserts and human genomic DNA. Proc Natl Acad Sci U S A. 1994;91:5695-5699.
18. Morineau G, Boudi A, Barka A, Gourmelen M, Degeilh F, Hardy N, al-Halnak A, Soliman H, Gosling JP, Julien R, Brerault JL, Boudou P, Aubert P, Villette JM, Pruna A, Galons H, Fiet J. Radioimmunoassay of cortisone in serum, urine, and saliva to assess the status of the cortisol-cortisone shuttle. Clin Chem. 1997;43:1397-1407.
19. Shackleton CH. Mass spectrometry in the diagnosis of steroid-related disorders and in hypertension research. J Steroid Biochem Mol Biol. 1993;45:127-140.
20. Weykamp CW, Penders TJ, Schmidt NA, Borburgh AJ, van de Calseyde JF, Wolthers BJ. Steroid profile for urine: reference values. Clin Chem. 1989;35:2281-2284.
21. Soro A, Ingram MC, Tonolo G, Glorioso N, Fraser R. Evidence of coexisting changes in 11β-hydroxysteroid dehydrogenase and 5β-reductase activity in subjects with untreated essential hypertension. Hypertension. 1995;25:67-70.
22. Obeyesekere VR, Ferrari P, Andrews RK, Wilson RC, New MI, Funder JW, Krozowski ZS. 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;80:3381-3383.
23. Mune T, White PC. Apparent mineralocorticoid excess: genotype is correlated with biochemical phenotype. Hypertension. 1996;27:1193-1199.
24. Li A, Li KX, Marui S, Krozowski ZS, Batista MC, Whorwood CB, Arnhold IJ, Shackleton CH, Mendonca BB, Stewart PM. Apparent mineralocorticoid excess in a Brazilian kindred: hypertension in the heterozygote state. J Hypertens. 1997;15:1397-1402.
25. Rogoff D, Smolenicka Z, Bergada I, Vallejo G, Barontini M, Heinrich JJ, Ferrari P. The codon 213 of the 11β-hydroxysteroid dehydrogenase type 2 gene is a hot spot for mutations in apparent mineralocorticoid excess. J Clin Endocrinol Metab. 1998;83:4391-4393.
26. Flood C, Layne DS, Ramcharan SE, Tait JF, Tait SAS. An investigation of the urinary metabolites and secretion rates of aldosterone and cortisol in man and a description of methods for their measurement. Acta Endocrinol (Copenh). 1961;36:237-264.
27. Vierhapper H, Nowotny P, Waldhausl W, Frisch H. Capillary gas chromatography as a tool for characterization of urinary steroid excretion in patients with congenital adrenal hyperplasia. J Steroid Biochem. 1985; 22:363-369.
28. Fiselier TJW, Otten BJ, Monnens LA, Honour JW, van Munster PJ. Low-renin, low-aldosterone hypertension and abnormal cortisol metabolism in a 19-month-old child. Horm Res. 1982;16:107-114.
29. Dave-Sharma S, Wilson RC, Harbison MD, Newfield R, Azar MR, Krozowski ZS, Funder JW, Shackleton CH, Bradlow HL, Wei JQ, Hertecant J, Moran A, Neiberger RE, Balfe JW, Fattah A, Daneman D, Akkurt HI, De Santis C, New MI. Examination of genotype and phenotype relationships in 14 patients with apparent mineralocorticoid excess. J Clin Endocrinol Metab. 1998;83:2244-2254.
30. Stewart PM, Murry BA, Mason JI. Type 2 11β-hydroxysteroid dehydrogenase in human fetal tissues. J Clin Endocrinol Metab. 1994;78: 1529-1532.