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Review

Overview of the genetic determinants of primary aldosteronism

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Pages 67-79 | Published online: 08 Apr 2014

References

  • FunderJWCareyRMFardellaCEndocrine SocietyCase detection, diagnosis, and treatment of patients with primary aldosteronism: an endocrine society clinical practice guidelineJ Clin Endocrinol Metab20089393266328118552288
  • RossiGPSecciaTMPessinaACPrimary aldosteronism: part II: subtype differentiation and treatmentJ Nephrol200821445546218651533
  • FunderJWThe genetics of primary aldosteronism: chapter twoHypertension201259353753822275537
  • ConnJWPresidential address. I. Painting background. II. Primary aldosteronism, a new clinical syndromeJ Lab Clin Med195545131713233623
  • RossiGPBerniniGCaliumiCPAPY Study InvestigatorsA prospective study of the prevalence of primary aldosteronism in 1,125 hypertensive patientsJ Am Coll Cardiol200648112293230017161262
  • RossiGPSecciaTMPessinaACPrimary aldosteronism – part I: prevalence, screening, and selection of cases for adrenal vein samplingJ Nephrol200821444745418651532
  • FagugliRMTaglioniCChanges in the perceived epidemiology of primary hyperaldosteronismInt J Hypertens2011201116280421837271
  • AmarLPlouinPFSteichenOAldosterone-producing adenoma and other surgically correctable forms of primary aldosteronismOrphanet J Rare Dis20105920482833
  • MossoLCarvajalCGonzálezAPrimary aldosteronism and hypertensive diseaseHypertension200342216116512796282
  • ZennaroMCPrimary aldosteronism takes (KCNJ) five!Endocrinology201215341575157722447911
  • MilliezPGirerdXPlouinPFBlacherJSafarMEMouradJJEvidence for an increased rate of cardiovascular events in patients with primary aldosteronismJ Am Coll Cardiol20054581243124815837256
  • StowasserMUpdate in primary aldosteronismJ Clin Endocrinol Metab200994103623363019737921
  • MulateroPMonticoneSBertelloCLong-term cardio- and cerebrovascular events in patients with primary aldosteronismJ Clin Endocrinol Metab201398124826483324057288
  • YoungWFPrimary aldosteronism: renaissance of a syndromeClin Endocrinol (Oxf)200766560761817492946
  • ChoiMSchollUIYuePK+ channel mutations in adrenal aldosterone-producing adenomas and hereditary hypertensionScience2011331601876877221311022
  • McMahonGTDluhyRGGlucocorticoid-remediable aldosteronismArq Bras Endocrinol Metabol200448568268615761539
  • CareyRMRole of K(+) channels in the pathophysiology of primary aldosteronismHypertension201259353453622252399
  • Velarde-MirandaCGomez-SanchezEPGomez-SanchezCERegulation of aldosterone biosynthesis by the Kir3.4 (KCNJ5) potassium channelClin Exp Pharmacol Physiol2013401289590123829355
  • HattangadyNGOlalaLOBollagWBRaineyWEAcute and chronic regulation of aldosterone productionMol Cell Endocrinol2012350215116221839803
  • BeuschleinFRegulation of aldosterone secretion: from physiology to diseaseEur J Endocrinol20131686R85R9323568484
  • GuagliardoNAYaoJHuCBarrettPQMinireview: aldosterone biosynthesis: electrically gated for our protectionEndocrinology201215383579358622689262
  • BassettMHSuzukiTSasanoHWhitePCRaineyWEThe orphan nuclear receptors NURR1 and NGFIB regulate adrenal aldosterone productionMol Endocrinol200418227929014645496
  • Gomez-SanchezCEGomez-SanchezEPMutations of the potassium channel KCNJ5 causing aldosterone-producing adenomas: one or two hits?Hypertension201259219619722203746
  • YangYYangYLiangBIdentification of a Kir3.4 mutation in congenital long QT syndromeAm J Hum Genet201086687288020560207
  • MonticoneSHattangadyNGNishimotoKEffect of KCNJ5 mutations on gene expression in aldosterone-producing adenomas and adrenocortical cellsJ Clin Endocrinol Metab2012978E1567E157222628608
  • WilliamsTAMonticoneSCrudoVWarthRVeglioFMulateroPVisinin-like 1 is upregulated in aldosterone-producing adenomas with KCNJ5 mutations and protects from calcium-induced apoptosisHypertension201259483383922331379
  • MulateroPTauberPZennaroMCKCNJ5 mutations in European families with nonglucocorticoid remediable familial hyperaldosteronismHypertension201259223524022203740
  • AzizanEAMurthyMStowasserMSomatic mutations affecting the selectivity filter of KCNJ5 are frequent in 2 large unselected collections of adrenal aldosteronomasHypertension201259358759122252394
  • ÅkerströmTCronaJDelgado VerdugoAComprehensive re-sequencing of adrenal aldosterone producing lesions reveal three somatic mutations near the KCNJ5 potassium channel selectivity filterPLoS One201277e4192622848660
  • AzizanEAPoulsenHTulucPSomatic mutations in ATP1A1 and CACNA1D underlie a common subtype of adrenal hypertensionNat Genet20134591055106023913004
  • WilliamsTAMonticoneSSchackVRSomatic ATP1A1, ATP2B3, and KCNJ5 Mutations in Aldosterone-Producing AdenomasHypertension201463118819524082052
  • BoulkrounSBeuschleinFRossiGPPrevalence, clinical, and molecular correlates of KCNJ5 mutations in primary aldosteronismHypertension201259359259822275527
  • StowasserMPrimary aldosteronism and potassium channel mutationsCurr Opin Endocrinol Diabetes Obes201320317017923426162
  • XekoukiPHatchMMLinLKCNJ5 mutations in the National Institutes of Health cohort of patients with primary hyperaldosteronism: an infrequent genetic cause of Conn’s syndromeEndocr Relat Cancer201219325526022323562
  • TaguchiRYamadaMNakajimaYExpression and mutations of KCNJ5 mRNA in Japanese patients with aldosterone-producing adenomasJ Clin Endocrinol Metab20129741311131922278422
  • ZennaroMCJeunemaitreXBoulkrounSIntegrating genetics and genomics in primary aldosteronismHypertension201260358058822802222
  • Al-SalamehACohenRChansonPPlouinPFUpdate on endocrine hypertensionAnn Endocrinol (Paris)201273Suppl 1S26S35 French23089379
  • AzizanEALamBYNewhouseSJMicroarray, qPCR, and KCNJ5 sequencing of aldosterone-producing adenomas reveal differences in genotype and phenotype between zona glomerulosa- and zona fasciculata-like tumorsJ Clin Endocrinol Metab2012975E819E82922442279
  • BoulkrounSGolib DzibJFSamson-CouterieBKCNJ5 mutations in aldosterone producing adenoma and relationship with adrenal cortex remodelingMol Cell Endocrinol20133711–222122723376008
  • BeuschleinFBoulkrounSOsswaldASomatic mutations in ATP1A1 and ATP2B3 lead to aldosterone-producing adenomas and secondary hypertensionNat Genet2013454440444444e1–223416519
  • Kumar DuttaRWelanderJBrauckhoffMComplementary somatic mutations in sporadic aldosterone producing adrenal adenomasEndocr Relat Cancer2014211L1L424179102
  • BaigSMKoschakALiebALoss of Ca(v)1.3 (CACNA1D) function in a human channelopathy with bradycardia and congenital deafnessNat Neurosci2011141778421131953
  • SchollUIGohGStöltingGSomatic and germline CACNA1D calcium channel mutations in aldosterone-producing adenomas and primary aldosteronismNat Genet20134591050105423913001
  • BrownMJIns and outs of aldosterone-producing adenomas of the adrenal: from channelopathy to common curable cause of hypertensionHypertension2014631242624082060
  • ZennaroMCRickardAJBoulkrounSGenetics of mineralocorticoid excess: an update for cliniciansEur J Endocrinol20131691R15R2523610123
  • SutherlandDJRuseJLLaidlawJCHypertension, increased aldosterone secretion and low plasma renin activity relieved by dexamethasoneCan Med Assoc J19669522110911194288576
  • McMahonGTDluhyRGGlucocorticoid-remediable aldosteronismCardiol Rev2004121444814667264
  • LiftonRPDluhyRGPowersMA chimaeric 11 beta-hydroxylase/aldosterone synthase gene causes glucocorticoid-remediable aldosteronism and human hypertensionNature199235563572622651731223
  • StowasserMGordonRDTunnyTJKlemmSAFinnWLKrekALFamilial hyperaldosteronism type II: five families with a new variety of primary aldosteronismClin Exp Pharmacol Physiol19921953193221521363
  • Hassan-SmithZStewartPMInherited forms of mineralo-corticoid hypertensionCurr Opin Endocrinol Diabetes Obes201118317718521494136
  • MulateroPTizzaniDViolaAPrevalence and characteristics of familial hyperaldosteronism: the PATOGEN study (Primary Aldosteronism in TOrino-GENetic forms)Hypertension201158579780321876069
  • GellerDSZhangJWisgerhofMVShackletonCKashgarianMLiftonRPA novel form of human mendelian hypertension featuring nonglucocorticoid-remediable aldosteronismJ Clin Endocrinol Metab20089383117312318505761
  • OkiKPlonczynskiMWLuis LamMGomez-SanchezEPGomez-SanchezCEPotassium channel mutant KCNJ5 T158A expression in HAC-15 cells increases aldosterone synthesisEndocrinology201215341774178222315453
  • SchollUINelson-WilliamsCYuePHypertension with or without adrenal hyperplasia due to different inherited mutations in the potassium channel KCNJ5Proc Natl Acad Sci U S A201210972533253822308486
  • CharmandariESertedakiAKinoTA novel point mutation in the KCNJ5 gene causing primary hyperaldosteronism and early-onset autosomal dominant hypertensionJ Clin Endocrinol Metab2012978E1532E153922628607
  • MonticoneSHattangadyNGPentonDA Novel Y152C KCNJ5 Mutation Responsible for Familial Hyperaldosteronism Type IIIJ Clin Endocrinol Metab20139811E1861E186524037882
  • SchollUILiftonRPNew insights into aldosterone-producing adenomas and hereditary aldosteronism: mutations in the K+ channel KCNJ5Curr Opin Nephrol Hypertens201322214114723318698
  • GoetzLBethelKTopolEJRebooting cancer tissue handling in the sequencing era: toward routine use of frozen tumor tissueJAMA20133091373823280221
  • MurthyMXuSMassimoGRole for germline mutations and a rare coding single nucleotide polymorphism within the KCNJ5 potassium channel in a large cohort of sporadic cases of primary aldosteronismHypertension201463478378924420545
  • LiNFLiHJZhangDLGenetic variations in the KCNJ5 gene in primary aldosteronism patients from Xinjiang, ChinaPLoS One201381e5405123382865