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Horm Metab Res 2016; 48(12): 865-868
DOI: 10.1055/s-0042-121494
Letter to the Editor
© Georg Thieme Verlag KG Stuttgart · New York

Evaluation of a Recently Established Test for Familial Hyperaldosteronism Type 1

T. Dringenberg
1   Division for Specific Endocrinology, Medical Faculty, University of Düsseldorf, Düsseldorf, Germany
,
M. Sorokina
1   Division for Specific Endocrinology, Medical Faculty, University of Düsseldorf, Düsseldorf, Germany
,
M. Ehlers
1   Division for Specific Endocrinology, Medical Faculty, University of Düsseldorf, Düsseldorf, Germany
,
G. Dekomien
2   Human Genetics, Ruhr University Bochum, Bochum
,
M. Haase
1   Division for Specific Endocrinology, Medical Faculty, University of Düsseldorf, Düsseldorf, Germany
3   Department of Medicine III, University Hospital Carl Gustav Carus, Dresden, Germany
,
E. Schulze
4   Endocrine Practice, Molecular Laboratory, Brueckenstrasse Heidelberg, Germany
,
M. Quinkler
5   Endocrinology in Charlottenburg, Stuttgarter Platz Berlin, Germany
,
L. C. Rump
6   Department of Nephrology, Medical Faculty, University of Düsseldorf, Düsseldorf, Germany
,
M. Schott
1   Division for Specific Endocrinology, Medical Faculty, University of Düsseldorf, Düsseldorf, Germany
,
H. S. Willenberg
1   Division for Specific Endocrinology, Medical Faculty, University of Düsseldorf, Düsseldorf, Germany
7   Division of Endocrinology and Metabolism, Rostock University Medical Center, Rostock, Germany
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Publikationsverlauf

received 14. November 2016

accepted 15. November 2016

Publikationsdatum:
06. Dezember 2016 (online)

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Key words

renin-angiotensin-aldosterone system - aldosterone - adrenal cortex
 

  • References

  • 1 Korah HE, Scholl UI. An Update on Familial Hyperaldosteronism. Horm Metab Res 2015; 47: 941-946
    Thieme ConnectPubMedSuche in Google Scholar
  • 2 Zennaro MC, Fernandes-Rosa F, Boulkroun S, Jeunemaitre X. Bilateral Idiopathic Adrenal Hyperplasia: Genetics and Beyond. Horm Metab Res 2015; 47: 947-952
    Suche in Google Scholar
  • 3 Funder JW, Carey RM, Mantero F, Murad MH, Reincke M, Shibata H, Stowasser M, Young Jr WF. The Management of Primary Aldosteronism: Case Detection, Diagnosis, and Treatment: An Endocrine Society Clinical Practice Guideline. J Clin Endocrinol Metab 2016; 101: 1889-1916
    CrossrefPubMedSuche in Google Scholar
  • 4 Zennaro MC, Jeunemaitre X. SFE/SFHTA/AFCE consensus on primary aldosteronism, part 5: Genetic diagnosis of primary aldosteronism. Ann Endocrinol 2016; 77: 214-219
    CrossrefPubMedSuche in Google Scholar
  • 5 Mulatero P, Tizzani D, Viola A, Bertello C, Monticone S, Mengozzi G, Schiavone D, Williams TA, Einaudi S, La Grotta A, Rabbia F, Veglio F. Prevalence and Characteristics of Familial Hyperaldosteronism: The PATOGEN Study (Primary Aldosteronism in TOrino-GENetic forms). Hypertension 2011; 58: 797-803
    Suche in Google Scholar
  • 6 Pizzolo F, Trabetti E, Guarini P, Mulatero P, Ciacciarelli A, Blengio GS, Corrocher R, Olivieri O. Glucocorticoid remediable aldosteronism (GRA) screening in hypertensive patients from a primary care setting. J Hum Hypertens 2005; 19: 325-327
    CrossrefPubMedSuche in Google Scholar
  • 7 Mckenzie CA, Keavney B, Forrester T, Julier C, Ratcliffe PJ. Screening for the GRA mutation in Jamaica. J Hum Hypertens 2000; 14: 157-158
    CrossrefPubMedSuche in Google Scholar
  • 8 Fardella CE, Mosso L, Gómez-Sánchez C, Cortés P, Soto J, Gómez L, Pinto M, Huete A, Oestreicher E, Foradori A, Montero J. Primary hyperaldosteronism in essential hypertensives: prevalence, biochemical profile, and molecular biology. J Clin Endocrinol Metab 2000; 85: 1863-1867
    CrossrefPubMedSuche in Google Scholar
  • 9 Strauch B, Zelinka T, Hampf M, Bernhardt R, Widimsky Jr J. Prevalence of primary hyperaldosteronism in moderate to severe hypertension in the Central Europe region. J Hum Hypertens 2003; 17: 349-352
    CrossrefPubMedSuche in Google Scholar
  • 10 Lee IS, Kim SY, Jang HW, Kim MK, Lee JH, Lee YH, Jo YS. Genetic analyses of the chimeric CYP11B1/CYP11B2 gene in a Korean family with glucocorticoid-remediable aldosteronism. J Korean Med Sci 2010; 25: 1379-1383
    CrossrefPubMedSuche in Google Scholar
  • 11 Yokota K, Ogura T, Kishida M, Suzuki J, Otsuka F, Mimura Y, Oishi T, Hirata M, Tobe K, Makino H. Japanese family with glucocorticoid-remediable aldosteronism diagnosed by long-polymerase chain reaction. Hypertens Res 2001; 24: 589-594
    CrossrefPubMedSuche in Google Scholar
  • 12 Sutherland DJ, Ruse JL, Laidlaw JC. Hypertension, increased aldosterone secretion and low plasma renin activity relieved by dexamethasone. Can Med Assoc J 1966; 95: 1109-1119
    Suche in Google Scholar
  • 13 New MI, Peterson RE. A new form of congenital adrenal hyperplasia. J Clin Endocrinol Metab 1967; 27: 300-305
    CrossrefPubMedSuche in Google Scholar
  • 14 Lifton RP, Dluhy RG, Powers M, Rich GM, Gutkin M, Fallo F, Gill JR, Feld L, Ganguly A, Laidlaw JC. Hereditary hypertension caused by chimaeric gene duplications and ectopic expression of aldosterone synthase. Nat Genet 1992; 2: 66-74
    CrossrefPubMedSuche in Google Scholar
  • 15 Quack I, Vonend O, Rump LC. Familial hyperaldosteronism I-III. Horm Metab Res 2010; 42: 424-428
    Thieme ConnectPubMedSuche in Google Scholar
  • 16 Dringenberg T, Schwitalla M, Haase M, Scherbaum WA, Willenberg HS. Control of CYP11B2/CYP11B1 expression ratio and consequences for the zonation of the adrenal cortex. Horm Metab Res 2013; 45: 81-85
    Thieme ConnectPubMedSuche in Google Scholar
  • 17 Stowasser M, Bachmann AW, Huggard PR, Rossetti TR, Gordon RD. Treatment of familial hyperaldosteronism type I: only partial suppression of adrenocorticotropin required to correct hypertension. J Clin Endocrinol Metab 2000; 85: 3313-3318
    Suche in Google Scholar
  • 18 Litchfield WR, New MI, Coolidge C, Lifton RP, Dluhy RG. Evaluation of the dexamethasone suppression test for the diagnosis of glucocorticoid-remediable aldosteronism. J Clin Endocrinol Metab 1997; 82: 3570-3573
    CrossrefPubMedSuche in Google Scholar
  • 19 Mulatero P. Diagnosis of glucocorticoid-remediable aldosteronism in primary aldosteronism: aldosterone response to dexamethasone and long polymerase chain reaction for chimeric gene. J Clin Endocrinol Metab 1998; 83: 2573-2575
    CrossrefPubMedSuche in Google Scholar
  • 20 Fardella CE, Mosso L, Gómez-Sánchez C, Cortés P, Soto J, Gómez L, Pinto M, Huete A, Oestreicher E, Foradori A, Montero J. Primary hyperaldosteronism in essential hypertensives: prevalence, biochemical profile, and molecular biology. J Clin Endocrinol Metab 2000; 85: 1863-1867
    CrossrefPubMedSuche in Google Scholar
  • 21 Moors M, Williams TA, Deinum J, Eisenhofer G, Reincke M, Lenders JW. Steroid Hormone Production in Patients with Aldosterone Producing Adenomas. Horm Metab Res 2015; 47: 967-972
    Suche in Google Scholar
  • 22 Choi M, Scholl U, Yue P, Björklund P, Zhao B, Nelson-Williams C, Jil W, Cho Y, Patel A, Men CJ, Lolis E, Wisgerhof MV, Geller DS, Mane S, Hellman P, Westin G, Akerström G, Wang W, Carling T, Lifton RP. K+ Channel Mutations in Adrenal Aldosterone-Producing Adenomas and Hereditary Hypertension. Science 2011; 331: 768-772
    Suche in Google Scholar
  • 23 Willenberg HS, Späth M, Maser-Gluth C, Engers R, Anlauf M, Dekomien G, Schott M, Schinner S, Cupisti K, Scherbaum WA. Sporadic solitary aldosterone- and cortisol-cosecreting adenomas – endocrine function tests, histological and genetic findings in a subtype of primary aldosteronism. Hypertens Res 2010; 33: 467-472
    Suche in Google Scholar
  • 24 Späth M, Korovkin S, Antke C, Anlauf M, Willenberg HS. Aldosterone- and cortisol-co-secreting adrenal tumors: the lost subtype of primary aldosteronism. Eur J Endocrinol 2011; 164: 447-455
    Suche in Google Scholar
  • 25 Åkerström T, Crona J, Delgado Verdugo A, Starker LF, Cupisti K, Willenberg HS, Knoefel WT, Saeger W, Feller A, Ip J, Soon P, Anlauf M, Alesina PF, Schmid KW, Decaussin M, Levillain P, Wängberg B, Peix JL, Robinson B, Zedenius J, Bäckdahl M, Caramuta S, Iwen KA, Botling J, Stålberg P, Kraimps JL, Dralle H, Hellman P, Sidhu S, Westin G, Lehnert H, Walz MK, Åkerström G, Carling T, Choi M, Lifton RP, Björklund P. Comprehensive re-sequencing of adrenal aldosterone producing lesions reveal 3 somatic mutations near the KCNJ5 potassium channel selectivity filter. PLoS One 2012; 7: e41926
    Suche in Google Scholar
  • 26 Funder JW. Primary Aldosteronism: New Answers, New Questions. Horm Metab Res 2015; 47: 935-940
    Suche in Google Scholar
  • 27 Willenberg HS, Vonend O, Schott M, Gao X, Blondin D, Saleh A, Rump LC, Scherbaum WA. Comparison of the saline infusion test and the fludrocortisone suppression test for the diagnosis of primary aldosteronism. Horm Metab Res 2012; 44: 527-532
    Thieme ConnectPubMedSuche in Google Scholar
  • 28 Vonend O, Altenhenne C, Büchner NJ, Dekomien G, Maser-Gluth C, Weiner SM, Sellin L, Hofebauer S, Epplen JT, Rump LC. A German family with glucocorticoid-remediable aldosteronism. Nephrol Dial Transplant 2007; 22: 1123-1130
    CrossrefPubMedSuche in Google Scholar
  • 29 Kamrath C, Maser-Gluth C, Haag C, Schulze E. Diagnosis of glucocorticoid-remediable aldosteronism in hypertensive children. J Horm Res Paediatr 2011; 76: 93-98
    PubMedSuche in Google Scholar
  • 30 Jonsson JR, Klemm SA, Tunny TJ, Stowasser M, Gordon RD. A new genetic test for familial hyperaldosteronism type I aids in the detection of curable hypertension. Biochem Biophys Res Commun 1996; 207: 565-571
    PubMedSuche in Google Scholar
  • 31 Halperin F, Dluhy RG. Glucocorticoid-remediable aldosteronism. Endocrinol Metab Clin North Am 2011; 40: 333-341
    CrossrefPubMedSuche in Google Scholar
  • 32 Macconnachie AA, Kelly KF, Mcnamara A, Loughlin S, Gates LJ, Inglis GC, Jamieson A, Connel JMC, Haites NE. Rapid Diagnosis and Identification of Cross-Over Sites in patients with Glucocorticoid Remediable Aldosteronism. J Clin Endocrinol Metab 1998; 83: 4328-4331
    CrossrefPubMedSuche in Google Scholar
  • 33 Mulatero P, di Cella SM, Williams TA, Milan A, Mengozzi G, Bonelli S, Chiandussi L, Gomez-Sanchez CE, Veglio F. Glucocorticoid remediable Aldosteronism. Low morbidity and mortality in a four-generation italian pedigree. J Clin Endocrinol Metab 2002; 87: 3187-3191
    CrossrefPubMedSuche in Google Scholar
  • 34 Prejbisz A, Warchoł-Celińska E, Lenders JW, Januszewicz A. Cardiovascular Risk in Primary Hyperaldosteronism. Horm Metab Res 2015; 47: 973-980
    Suche in Google Scholar
  • 35 Stowasser M, Bachmann AW, Huggard PR, Rossetti TR, Gordon RD. Treatment of familial hyperaldosteronism type I: only partial suppression of adrenocorticotropin required to correct hypertension. J Clin Endocrinol Metab 2000; 85: 3313-3318
    Suche in Google Scholar
  • 36 Carvajal CA, Campino C, Martinez-Aguayo A, Tichauer JE, Bancalari R, Valdivia C, Trejo P, Aglony M, Baudrand R, Lagos CF, Mellado C, Garcia H, Fardella CE. A New Presentation of the Chimeric CYP11B1/CYP11B2 Gene with Low Prevalence of Primary Aldosteronism and Atypical Gene Segregation Pattern. Hypertension 2011; 59: 85-91
    PubMedSuche in Google Scholar
  • 37 Pilz S, Kienreich K, Gaksch M, Grübler M, Verheyen N, Bersuch LA, Schmid J, Drechsler C, Ritz E, Moosbrugger A, Stepan V, Pieber TR, Meinitzer A, März W, Tomaschitz A. Aldosterone to Active Renin Ratio as Screening Test for Primary Aldosteronism: Reproducibility and Influence of Orthostasis and Salt Loading. Horm Metab Res 2014; 46: 427-443
    Suche in Google Scholar
  • 38 Pallauf A, Schirpenbach C, Zwermann O, Fischer E, Morak M, Holinski-Feder E, Hofbauer L, Beuschlein F, Reincke M. The prevalence of familial hyperaldosteronism in apparently sporadic primary aldosteronism in Germany: a single center experience. Horm Metab Res 2012; 44: 215-220
    Thieme ConnectPubMedSuche in Google Scholar
  • 39 Gordon RD, Stowasser M, Tunny TJ, Klemm SA, Finn WL, Krek AL. Clinical and pathological diversity of primary aldosteronism, including a new familial variety. Clin Exp Pharmacol Physiol 1991; 18: 283-286
    Suche in Google Scholar
  • 40 Fogari R, Preti P, Zoppi A, Rinaldi A, Fogari E, Mugellini A. Prevalence of primary aldosteronism among unselected hypertensives patients: a prospective study based on the use of an aldosterone/renin ratio above 25 as a screening test. Hypertens Res 2007; 30: 111-117
    CrossrefPubMedSuche in Google Scholar
  • 41 Aglony M, Martínez-Aguayo A, Carvajal C, Campino C, Garcia H, Bancalari R, Bolte L, Avalos C, Loureiro C, Trejo P, Brinkmann K, Giadrosich V, Mericq V, Rocha A, Avila A, Perez V, Inostroza A, Fardella C. Frequency of familial hyperaldosteronism type I in a hypertensive pediatric population: clinical and biochemical presentation. Hypertension 2011; 57: 1117-1121
    CrossrefPubMedSuche in Google Scholar