Padmanabhan S, Dominiczak AF (2021) Genomics of hypertension: the road to precision medicine. Nat Rev Cardiol 18:235–250

CAS  PubMed  Article  Google Scholar 

Rossi GM, Regolisti G, Peyronel F, Fiaccadori E (2020) Recent insights into sodium and potassium handling by the aldosterone-sensitive distal nephron: a review of the relevant physiology. J Nephrol 33:431–445

CAS  PubMed  Article  Google Scholar 

Simonetti GD, Mohaupt MG, Bianchetti MG (2012) Monogenic forms of hypertension. Eur J Pediatr 171:1433–1439

CAS  PubMed  Article  Google Scholar 

Vehaskari VM (2009) Heritable forms of hypertension. Pediatr Nephrol 24:1929–1937

PubMed  PubMed Central  Article  Google Scholar 

Fernandes-Rosa FL, Daniil G, Orozco IJ, Goppner C, El Zein R, Jain V, Boulkroun S, Jeunemaitre X, Amar L, Lefebvre H, Schwarzmayr T, Strom TM, Jentsch TJ, Zennaro MC (2018) A gain-of-function mutation in the CLCN2 chloride channel gene causes primary aldosteronism. Nat Genet 50:355–361

CAS  PubMed  Article  Google Scholar 

Scholl UI, Stolting G, Schewe J, Thiel A, Tan H, Nelson-Williams C, Vichot AA, Jin SC, Loring E, Untiet V, Yoo T, Choi J, Xu S, Wu A, Kirchner M, Mertins P, Rump LC, Onder AM, Gamble C, McKenney D, Lash RW, Jones DP, Chune G, Gagliardi P, Choi M, Gordon R, Stowasser M, Fahlke C, Lifton RP (2018) CLCN2 chloride channel mutations in familial hyperaldosteronism type II. Nat Genet 50:349–354

Pons Fernandez N, Moreno F, Morata J, Moriano A, Leon S, De Mingo C, Zuniga A, Calvo F (2019) Familial hyperaldosteronism type III a novel case and review of literature. Rev Endocr Metab Disord 20:27–36

CAS  PubMed  Article  Google Scholar 

Scholl UI, Stolting G, Nelson-Williams C, Vichot AA, Choi M, Loring E, Prasad ML, Goh G, Carling T, Juhlin CC, Quack I, Rump LC, Thiel A, Lande M, Frazier BG, Rasoulpour M, Bowlin DL, Sethna CB, Trachtman H, Fahlke C, Lifton RP (2015) Recurrent gain of function mutation in calcium channel CACNA1H causes early-onset hypertension with primary aldosteronism. Elife 4:e06315

PubMed  PubMed Central  Article  Google Scholar 

Daniil G, Fernandes-Rosa FL, Chemin J, Blesneac I, Beltrand J, Polak M, Jeunemaitre X, Boulkroun S, Amar L, Strom TM, Lory P, Zennaro MC (2016) CACNA1H mutations are associated with different forms of primary aldosteronism. EBioMedicine 13:225–236

Wulczyn K, Perez-Reyes E, Nussbaum RL, Park M (2019) Primary aldosteronism associated with a germline variant in CACNA1H. BMJ Case Rep 12:e229031

PubMed  PubMed Central  Article  Google Scholar 

Sutherland DJ, Ruse JL, Laidlaw JC (1966) Hypertension, increased aldosterone secretion and low plasma renin activity relieved by dexamethasone. Can Med Assoc J 95:1109–1119

CAS  PubMed  PubMed Central  Google Scholar 

Stowasser M, Gunasekera TG, Gordon RD (2001) Familial varieties of primary aldosteronism. Clin Exp Pharmacol Physiol 28:1087–1090

CAS  PubMed  Article  Google Scholar 

Lifton RP, Dluhy RG, Powers M, Rich GM, Cook S, Ulick S, Lalouel JM (1992) A chimaeric 11 beta-hydroxylase/aldosterone synthase gene causes glucocorticoid-remediable aldosteronism and human hypertension. Nature 355:262–265

CAS  PubMed  Article  Google Scholar 

Chu MD, Ulick S (1982) Isolation and identification of 18-hydroxycortisol from the urine of patients with primary aldosteronism. J Biol Chem 257:2218–2224

CAS  PubMed  Article  Google Scholar 

Dluhy RG, Anderson B, Harlin B, Ingelfinger J, Lifton R (2001) Glucocorticoid-remediable aldosteronism is associated with severe hypertension in early childhood. J Pediatr 138:715–720

CAS  PubMed  Article  Google Scholar 

Fallo F, Pilon C, Williams TA, Sonino N, Morra Di Cella S, Veglio F, De Iasio R, Montanari P, Mulatero P (2004) Coexistence of different phenotypes in a family with glucocorticoid-remediable aldosteronism. J Hum Hypertens 18:47–51

CAS  PubMed  Article  Google Scholar 

Litchfield WR, Anderson BF, Weiss RJ, Lifton RP, Dluhy RG (1998) Intracranial aneurysm and hemorrhagic stroke in glucocorticoid-remediable aldosteronism. Hypertension 31:445–450

CAS  PubMed  Article  Google Scholar 

Litchfield WR, Coolidge C, Silva P, Lifton RP, Fallo F, Williams GH, Dluhy RG (1997) Impaired potassium-stimulated aldosterone production: a possible explanation for normokalemic glucocorticoid-remediable aldosteronism. J Clin Endocrinol Metab 82:1507–1510

CAS  PubMed  Google Scholar 

McMahon GT, Dluhy RG (2004) Glucocorticoid-remediable aldosteronism. Arq Bras Endocrinol Metabol 48:682–686

PubMed  Article  Google Scholar 

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 (2012) A new presentation of the chimeric CYP11B1/CYP11B2 gene with low prevalence of primary aldosteronism and atypical gene segregation pattern. Hypertension 59:85–91

CAS  PubMed  Article  Google Scholar 

Litchfield WR, New MI, Coolidge C, Lifton RP, Dluhy RG (1997) Evaluation of the dexamethasone suppression test for the diagnosis of glucocorticoid-remediable aldosteronism. J Clin Endocrinol Metab 82:3570–3573

CAS  PubMed  Google Scholar 

Mosso L, Gomez-Sanchez CE, Foecking MF, Fardella C (2001) Serum 18-hydroxycortisol in primary aldosteronism, hypertension, and normotensives. Hypertension 38:688–691

CAS  PubMed  Article  Google Scholar 

McMahon GT, Dluhy RG (2004) Glucocorticoid-remediable aldosteronism. Cardiol Rev 12:44–48

PubMed  Article  Google Scholar 

Lenders JWM, Williams TA, Reincke M, Gomez-Sanchez CE (2018) Diagnosis of endocrine disease: 18-oxocortisol and 18-hydroxycortisol: is there clinical utility of these steroids? Eur J Endocrinol 178:R1–R9

CAS  PubMed  Article  Google Scholar 

Fardella CE, Pinto M, Mosso L, Gomez-Sanchez C, Jalil J, Montero J (2001) Genetic study of patients with dexamethasone-suppressible aldosteronism without the chimeric CYP11B1/CYP11B2 gene. J Clin Endocrinol Metab 86:4805–4807

CAS  PubMed  Article  Google Scholar 

Mulatero P, Veglio F, Pilon C, Rabbia F, Zocchi C, Limone P, Boscaro M, Sonino N, Fallo F (1998) Diagnosis of glucocorticoid-remediable aldosteronism in primary aldosteronism: aldosterone response to dexamethasone and long polymerase chain reaction for chimeric gene. J Clin Endocrinol Metab 83:2573–2575

CAS  PubMed  Article  Google Scholar 

Stowasser M, Gartside MG, Gordon RD (1997) A PCR-based method of screening individuals of all ages, from neonates to the elderly, for familial hyperaldosteronism type I. Aust NZ J Med 27:685–690

CAS  Article  Google Scholar 

Dluhy RG, Lifton RP (1999) Glucocorticoid-remediable aldosteronism. J Clin Endocrinol Metab 84:4341–4344

CAS  PubMed  Article  Google Scholar 

Halperin F, Dluhy RG (2011) Glucocorticoid-remediable aldosteronism. Endocrinol Metab Clin N Am 40:333–341 viii

CAS  Article  Google Scholar 

Yang T, He M, Hu C (2018) Regulation of aldosterone production by ion channels: from basal secretion to primary aldosteronism. Biochim Biophys Acta Mol Basis Dis 1864:871–881

CAS  PubMed  Article  Google Scholar 

Choi M, Scholl UI, Yue P, Bjorklund P, Zhao B, Nelson-Williams C, Ji W, Cho Y, Patel A, Men CJ, Lolis E, Wisgerhof MV, Geller DS, Mane S, Hellman P, Westin G, Akerstrom G, Wang W, Carling T, Lifton RP (2011) K+ channel mutations in adrenal aldosterone-producing adenomas and hereditary hypertension. Science 331:768–772

CAS  PubMed  PubMed Central  Article  Google Scholar 

Scholl UI, Goh G, Stolting G, de Oliveira RC, Choi M, Overton JD, Fonseca AL, Korah R, Starker LF, Kunstman JW, Prasad ML, Hartung EA, Mauras N, Benson MR, Brady T, Shapiro JR, Loring E, Nelson-Williams C, Libutti SK, Mane S, Hellman P, Westin G, Akerstrom G, Bjorklund P, Carling T, Fahlke C, Hidalgo P, Lifton RP (2013) Somatic and germline CACNA1D calcium channel mutations in aldosterone-producing adenomas and primary aldosteronism. Nat Genet 45:1050–1054

CAS  PubMed  PubMed Central  Article  Google Scholar 

Scholl UI (2019) CLCN2 clicks with aldosterone-producing adenomas, too! Eur J Endocrinol 181:C21–C22

CAS  PubMed  Article  Google Scholar 

Nanba K, Blinder AR, Rege J, Hattangady NG, Else T, Liu CJ, Tomlins SA, Vats P, Kumar-Sinha C, Giordano TJ, Rainey WE (2020) Somatic CACNA1H mutation as a cause of aldosterone-producing adenoma. Hypertension 75:645–649

CAS  PubMed  Article  Google Scholar 

Seidel E, Schewe J, Scholl UI (2019) Genetic causes of primary aldosteronism. Exp Mol Med 51:1–12

CAS  PubMed  Article  Google Scholar 

Reimer EN, Walenda G, Seidel E, Scholl UI (2016) CACNA1H(M1549V) mutant calcium channel causes autonomous aldosterone production in HAC15 cells and is inhibited by mibefradil. Endocrinology 157:3016–3022

CAS  PubMed  Article  Google Scholar 

Mune T, Rogerson FM, Nikkila H, Agarwal AK, White PC (1995) Human hypertension caused by mutations in the kidney isozyme of 11 beta-hydroxysteroid dehydrogenase. Nat Genet 10:394–399

CAS  PubMed  Article  Google Scholar 

Yau M, Haider S, Khattab A, Ling C, Mathew M, Zaidi S, Bloch M, Patel M, Ewert S, Abdullah W, Toygar A, Mudryi V, Al Badi M, Alzubdi M, Wilson RC, Al Azkawi HS, Ozdemir HN, Abu-Amer W, Hertecant J, Razzaghy-Azar M, Funder JW, Al Senani A, Sun L, Kim SM, Yuen T, Zaidi M, New MI (2017) Clinical, genetic, and structural basis of apparent mineralocorticoid excess due to 11beta-hydroxysteroid dehydrogenase type 2 deficiency. Proc Natl Acad Sci U S A 114:E11248–E11256

CAS  PubMed  PubMed Central  Article  Google Scholar 

Nimkarn S (2011) Apparent mineralocorticoid excess - update. Adv Exp Med Biol 707:47–48