Apparent mineralocorticoid excess: Report of six new cases and extensive personal experience

Journal of the American Society of Nephrology

Volumn 17, Issue 11, 2006, Pages 3176-3184

  Morineau, Gilles ^a   Sulmont, Véronique ^e   Salomon, Remi ^b   Fiquet Kempf, Beatrice ^c   Jeunemaître, Xavier ^c,d   Nicod, Jérôme ^f   Ferrari, Paolo ^g  

^a HÔPITAL SAINT ANTOINE   (France)

^b HÔPITAL NECKER ENFANTS MALADES   (France)

^c HÔPITAL EUROPÉEN GEORGES POMPIDOU   (France)

^d UNIVERSITÉ PARIS DESCARTES   (France)

^e AMERICAN MEMORIAL HOSPITAL   (France)

^f UNIVERSITY OF BERN   (Switzerland)

^g UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

11BETA HYDROXYSTEROID DEHYDROGENASE; 11BETA HYDROXYSTEROID DEHYDROGENASE TYPE 2; ALDOSTERONE; DEXAMETHASONE; MINERALOCORTICOID; SPIRONOLACTONE; TETRAHYDROCORTISOL; TETRAHYDROCORTISONE; UNCLASSIFIED DRUG;

ADOLESCENT; ALDOSTERONE BLOOD LEVEL; AMINO ACID SEQUENCE; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; ENZYME MECHANISM; FEMALE; FRAMESHIFT MUTATION; GENE; GENE DISRUPTION; GENE MUTATION; GENETIC ANALYSIS; HETEROZYGOTE; HORMONE RECEPTOR INTERACTION; HSD11B2 GENE; HUMAN; HUMAN CELL; HUMAN TISSUE; HYPERALDOSTERONISM; HYPERTENSION; HYPOKALEMIA; MALE; PLASMA RENIN ACTIVITY; POINT MUTATION; PRIORITY JOURNAL;

EID: 33750697604     PISSN: 10466673     EISSN: None     Source Type: Journal    
DOI: 10.1681/ASN.2006060570     Document Type: Article

References (41)

1. Werder EA, Zachmann M, Vollmin JA, Veyrat R, Prader A: Unusual steroid excretion in a child, with low renin hypertension. Res Steroids 6: 385-389, 1974
2. 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 44: 924-933, 1977
3. 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 49: 757-764, 1979
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 80: 2263-2266, 1995
5. Obeyesekere VR, Ferrari P, Andrews RK, Wilson RC, New MI, Funder JW, Krozowski ZS: The R337C mutation generates a high Km 11beta-hydroxysteroid dehydrogenase type II enzyme in a family with apparent mineralocorticoid excess. J Clin Endocrinol Metab 80: 3381-3383, 1995
6. Mune T, Rogerson FM, Nikkila H, Agarwal AK, White PC: Human hypertension caused by mutations in the kidney isozyme of 11beta-hydroxysteroid dehydrogenase. Nat Genet 10: 394-399, 1995
7. Ferrari P, Obeyesekere VR, Li K, Wilson RC, New MI, Funder JW, Krozowski ZS: Point mutations abolish 11beta-hydroxysteroid dehydrogenase type II activity in three families with the congenital syndrome of apparent mineralocorticoid excess. Mol Cell Endocrinol 119: 21-24, 1996
8. Ferrari P, Obeyesekere VR, Li K, Andrews RK, Krozowski ZS: The 11beta-hydroxysteroid dehydrogenase type II enzyme: Biochemical consequences of the congenital R337C mutation. Steroids 61:197-200, 1996
9. Stewart PM, Krozowski ZS, Gupta A, Milford DV, Howie AJ, Sheppard MC, Whorwood CB: Hypertension in the syndrome of apparent mineralocorticoid excess due to mutation of the 11beta-hydroxysteroid dehydrogenase type 2 gene. Lancet 347: 88-91, 1996
10. Kitanaka S, Katsumata N, Tanae A, Hibi I, Takeyama K, Fuse H, Kato S, Tanaka T: A new compound heterozygous mutation in the 11beta-hydroxysteroid dehydrogenase type 2 gene in a case of apparent mineralocorticoid excess. J Clin Endocrinol Metab 82: 4054-4058, 1997
11. Krozowski ZS, Stewart PM, Obeyesekere VR, Li K, Ferrari P: Mutations in the 11beta-hydroxysteroid dehydrogenase type II enzyme associated with hypertension and possibly stillbirth. Clin Exp Hypertens 19: 519-529, 1997
12. 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 15: 1397-1402, 1997
13. Rogoff D, Smolenicka Z, Bergada I, Vallejo G, Barontini M, Heinrich JJ, Ferrari P: The codon 213 of the llbeta-hydroxysteroid dehydrogenase type 2 gene is a hot spot for mutations in apparent mineralocorticoid excess. J Clin Endocrinol Metab 83: 4391-4393, 1998
14. Wilson RC, Dave-Sharma S, Wei JQ, Obeyesekere VR, Li K, Ferrari P, Krozowski ZS, Shackleton CH, Bradlow L, Wiens T, New MI: A genetic defect resulting in mild low-renin hypertension. Proc Natl Acad Sci USA 95: 10200-10205, 1998
15. 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 83: 2244-2254, 1998
16. 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 63: 370-379, 1998
17. Morineau G, Marc JM, Boudi A, Galons H, Gourmelen M, Corvol P, Pascoe L, Fiet J: Genetic, biochemical, and clinical studies of patients with A328V or R213C mutations in 11betaHSD2 causing apparent mineralocorticoid excess. Hypertension 34: 435-441, 1999
18. Odermatt A, Dick B, Arnold P, Zaehner T, Plueschke V, Deregibus MN, Repetto H, Frey BM, Frey FJ, Ferrari P: A mutation in the cofactor-binding domain of 11beta-hydroxysteroid dehydrogenase type 2 associated with mineralocorticoid hypertension. J Clin Endocrinol Metab 86: 1247-1252, 2001
19. Carvajal CA, Gonzalez AA, Romero DG, Gonzalez A, Mosso LM, Lagos ET, Hevia Mdel P, Rosati MP, Perez-Acle TO, Gomez-Sanchez CE, Montero JA, Fardella CE: Two homozygous mutations in the 11beta-hydroxysteroid dehydrogenase type 2 gene in a case of apparent mineralocorticoid excess. J Clin Endocrinol Metab 88: 2501-2507, 2003
20. Lavery GG, Ronconi V, Draper N, Rabbitt EH, Lyons V, Chapman KE, Walker EA, McTernan CL, Giacchetti G, Mantero F, Seckl JR, Edwards CR, Connell JM, Hewison M, Stewart PM: Late-onset apparent mineralocorticoid excess caused by novel compound heterozygous mutations in the HSD11B2 gene. Hypertension 42: 123-129, 2003
21. Quinkler M, Bappal B, Draper N, Atterbury AJ, Lavery GG, Walker EA, DeSilva V, Taylor NF, Hala S, Rajendra N, Stewart PM: Molecular basis for the apparent mineralocorticoid excess syndrome in the Oman population. Mol Cell Endocrinol 217: 143-149, 2004
22. Lin-Su K, Zhou P, Arora N, Betensky BP, New MI, Wilson RC: In vitro expression studies of a novel mutation delta299 in a patient affected with apparent mineralocorticoid excess. J Clin Endocrinol Metab 89: 2024-2027, 2004
23. Shackleton CH: Mass spectrometry in the diagnosis of steroid-related disorders and in hypertension research. J Steroid Biochem Mol Biol 45: 127-140, 1993
24. Ferrari P, Sansonnens A, Dick B, Frey FJ: In vivo 11betaHSD-2 activity: Variability, salt-sensitivity, and effect of licorice. Hypertension 38: 1330-1336, 2001
25. Zaehner T, Plueshke V, Frey BM, Frey FJ, Ferrari P: Structural analysis of the 11beta-hydroxysteroid dehydrogenase type 2 gene in end-stage renal disease. Kidney Int 58:1413-1419, 2000
26. Funder J, Myles K: Exclusion of corticosterone from epithelial mineralocorticoid receptors is insufficient for selectivity of aldosterone action: In vivo binding studies. Endocrinology 137: 5264-5268, 1996
27. Ollila J, Lappalainen I, Vihinen M: Sequence specificity in CpG mutation hotspots. FEBS Lett 396: 119-122, 1996
28. el Antri S, Mauffret O, Monnot M, Lescot E, Convert O, Fermandjian S: Structural deviations at CpG provide a plausible explanation for the high frequency of mutation at this site. Phosphorus nuclear magnetic resonance and circular dichroism studies. J Mol Biol 230: 373-378, 1993
29. New MI, Geller DS, Fallo F, Wilson RC: Monogenic low renin hypertension. Trends Endocrinol Metab 16: 92-97, 2005
30. Mantero F, Tedde R, Opocher G, Dessi Fulgheri P, Arnaldi G, Ulick S: Apparent mineralocorticoid excess type II. Steroids 59: 80-83, 1994
31. Simon DB, Karet FE, Hamdan JM, DiPietro A, Sanjad SA, Lifton RP: Bartter's syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2Cl cotransporter NKCC2. Nat Genet 13: 183-188, 1996
32. Syren ML, Tedeschi S, Cesareo L, Bellantuono R, Colussi G, Procaccio M, Ali A, Domenici R, Malberti F, Sprocati M, Sacco M, Miglietti N, Edefonti A, Sereni F, Casari G, Coviello DA, Bettinelli A: Identification of fifteen novel mutations in the SLC12A3 gene encoding the Na-Cl co-transporter in Italian patients with Gitelman syndrome. Hum Mutat 20: 78, 2002
33. Stahl MM, Vaara I: Gitelman versus classic Bartter syndrome. J Pediatr 123: 671-672, 1993
34. Bettinelli A, Bianchetti MG, Girardin E, Caringella A, Cecconi M, Appiani AC, Pavanello L, Gastaldi R, Isimbaldi C, Lama G, et al: Use of calcium excretion values to distinguish two forms of primary renal tubular hypokalemic alkalosis: Bartter and Gitelman syndromes. J Pediatr 120: 38-43, 1992
35. Ferrari P, Bianchetti MG, Sansonnens A, Frey FJ: Modulation of renal calcium handling by 11beta-hydroxysteroid dehydrogenase type 2. J Am Soc Nephrol 13: 2540-2546, 2002
36. Walker BR, Stewart PM, Shackleton CH, Padfield PL, Edwards CR: Deficient inactivation of cortisol by 11beta-hydroxysteroid dehydrogenase in essential hypertension. Clin Endocrinol 39: 221-227, 1993
37. Soro A, Ingram MC, Tonolo G, Glorioso N, Fraser R: Evidence of coexisting changes in 11beta-hydroxysteroid dehydrogenase and 5 beta-reductase activity in subjects with untreated essential hypertension. Hypertension 25: 67-70, 1995
38. Lovati E, Ferrari P, Dick B, Jostarndt K, Frey BM, Frey FJ, Schorr U, Sharma AM: Molecular basis of human salt-sensitivity: The role of the 11beta-hydroxysteroid dehydrogenase type 2. J Clin Endocrinol Metab 84: 3745-3749, 1999
39. Sharma AM: Salt sensitivity as a phenotype for genetic studies of human hypertension. Nephrol Dial Transplant 11: 927-929, 1996
40. Agarwal AK, Giacchetti G, Lavery G, Nikkila H, Palermo M, Ricketts M, McTernan C, Bianchi G, Manunta P, Strazzullo P, Mantero F, White PC, Stewart PM: CA-repeat polymorphism in intron 1 of HSD11B2: Effects on gene expression and salt sensitivity. Hypertension 36: 187-194, 2000
41. Watson B Jr, Bergman SM, Myracle A, Callen DF, Acton RT, Warnock DG: Genetic association of 11beta-hydroxysteroid dehydrogenase type 2 (HSD11B2) flanking microsatellites with essential hypertension in blacks. Hypertension 28: 478-482, 1996