Primary aldosteronism and ARMC5 variants

Journal of Clinical Endocrinology and Metabolism

Volumn 100, Issue 6, 2015, Pages E900-E909

  Zilbermint, Mihail ^a   Xekouki, Paraskevi ^a   Faucz, Fabio R ^a   Berthon, Annabel ^a   Gkourogianni, Alexandra ^a   Schernthaner Reiter, Marie Helene ^a   Batsis, Maria ^a   Sinaii, Ninet ^b   Quezado, Martha M ^c   Merino, Maria ^c   Hodes, Aaron ^d   Abraham, Smita B ^a   Libé, Rossella ^e   Assié, Guillaume ^e   Espiard, Stéphanie ^a   Drougat, Ludivine ^e   Ragazzon, Bruno ^e   Davis, Adam ^f   Gebreab, Samson Y ^f   Neff, Ryan ^f   Kebebew, Electron ^c   Bertherat, Jérôme ^f   Lodish, Maya B ^a   Stratakis, Constantine A ^a   more..

^a EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENT   (United States)

^b NATIONAL INSTITUTES OF HEALTH   (United States)

^c NATIONAL CANCER INSTITUTE   (United States)

^d CASE WESTERN RESERVE UNIVERSITY   (United States)

^e NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^f INSTITUT COCHIN   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ALDOSTERONE; HYDROCORTISONE; MINERALOCORTICOID ANTAGONIST; ARMC5 PROTEIN, HUMAN; GLUCOCORTICOID; TUMOR SUPPRESSOR PROTEIN;

ADRENALECTOMY; ADULT; AFRICAN AMERICAN; ALDOSTERONE BLOOD LEVEL; ALTERNATIVE RNA SPLICING; ARMC5 GENE; ARTICLE; COHORT ANALYSIS; COMPUTER MODEL; CONTROLLED STUDY; EMBRYO; FEMALE; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC VARIABILITY; HUMAN; HUMAN CELL; HUMAN TISSUE; HYDROCORTISONE RELEASE; IN VITRO STUDY; MAJOR CLINICAL STUDY; MALE; MIDDLE AGED; PLASMA RENIN ACTIVITY; PREDICTION; PRIMARY HYPERALDOSTERONISM; PRIORITY JOURNAL; RETROSPECTIVE STUDY; SINGLE NUCLEOTIDE POLYMORPHISM; TUMOR SUPPRESSOR GENE; GENE FREQUENCY; GENETIC PREDISPOSITION; GENETICS; GERMLINE MUTATION; HYPERALDOSTERONISM; METABOLISM; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; SECRETION (PROCESS);

ADULT; ALTERNATIVE SPLICING; DNA MUTATIONAL ANALYSIS; FEMALE; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; GERM-LINE MUTATION; GLUCOCORTICOIDS; HUMANS; HYPERALDOSTERONISM; MALE; MIDDLE AGED; MUTATION, MISSENSE; POLYMORPHISM, SINGLE NUCLEOTIDE; RETROSPECTIVE STUDIES; TUMOR SUPPRESSOR PROTEINS;

EID: 84930801502     PISSN: 0021972X     EISSN: 19457197     Source Type: Journal    
DOI: 10.1210/jc.2014-4167     Document Type: Article

References (54)

1. Finegold JA, Asaria P, Francis DP. Mortality from ischaemic heart disease by country, region, and age: statistics from World Health Organisation and United Nations. Int J Cardiol. 2013;168:934-945.
2. Mulatero P, Stowasser M, Loh KC, et al. Increased diagnosis of primary aldosteronism, including surgically correctable forms, in centers from five continents. J Clin Endocrinol Metab. 2004;89:1045-1050.
3. Rossi GP, Bernini G, Caliumi C, et al. A prospective study of the prevalence of primary aldosteronism in 1,125 hypertensive patients. J Am Coll Cardiol. 2006;48:2293-2300.
4. Schirpenbach C, Reincke M. Primary aldosteronism: current knowledge and controversies in Conn's syndrome. Nat Clin Pract Endocrinol Metab. 2007;3:220-227.
5. Torpy DJ, Stratakis CA, Gordon RD. Linkage analysis of familial hyperaldosteronism type II-absence of linkage to the gene encoding the angiotensin II receptor type 1. J Clin Endocrinol Metab. 1998;83:1046.
6. Xekouki P, Hatch MM, Lin L, et al. KCNJ5 mutations in the National Institutes of Health cohort of patients with primary hyperaldosteronism: an infrequent genetic cause of Conn's syndrome. Endocr Relat Cancer. 2012;19:255-260.
7. Choi M, Scholl UI, Yue P, et al. K+ channel mutations in adrenal aldosterone-producing adenomas and hereditary hypertension. Science. 2011;331:768-772.
8. Boulkroun S, Beuschlein F, Rossi GP, et al. Prevalence, clinical, and molecular correlates of KCNJ5 mutations in primary aldosteronism. Hypertension. 2012;59:592-598.
9. Charmandari E, Sertedaki A, Kino T, et al. A novel point mutation in the KCNJ5 gene causing primary hyperaldosteronism and early-onset autosomal dominant hypertension. J Clin Endocrinol Metab. 2012;97:E1532-E1539.
10. Scholl UI, Goh G, Stölting G, et al. Somatic and germline CACNA1D calcium channel mutations in aldosterone-producing adenomas and primary aldosteronism. Nat Genet. 2013;45:1050-1054.
11. Scholl UI, Nelson-Williams C, Yue P, et al. Hypertension with or without adrenal hyperplasia due to different inherited mutations in the potassium channel KCNJ5. Proc Natl Acad Sci USA. 2012;109:2533-2538.
12. Funder JW. Genetics of primary aldosteronism. Front Horm Res. 2014;43:70-78.
13. Monticone S, Bandulik S, Stindl J, et al. A case of severe hyperaldosteronism caused by a de novo mutation affecting a critical salt bridge Kir3.4 residue. J Clin Endocrinol Metab. 2015;100:E114-E118.
14. Lafferty AR, Torpy DJ, Stowasser M, et al. A novel genetic locus for low renin hypertension: familial hyperaldosteronism type II maps to chromosome 7 (7p22). J Med Genet. 2000;37:831-835.
15. Stowasser M, Gordon RD, Tunny TJ, Klemm SA, Finn WL, Krek AL. Familial hyperaldosteronism type II: five families with a new variety of primary aldosteronism. Clin Exp Pharmacol Physiol. 1992;19:319-322.
16. Gordon RD, Klemm SA, Tunny TJ, Stowasser M. Primary aldosteronism: hypertension with a genetic basis. Lancet. 1992;340:159-161.
17. Gordon RD, Stowasser M, Klemm SA, Tunny TJ. Primary aldosteronism-some genetic, morphological, and biochemical aspects of subtypes. Steroids. 1995;60:35-41.
18. 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.
19. Adachi J, Hirai Y, Terui K, et al. A report of 7 cases of adrenal tumors secreting both cortisol and aldosterone. Intern Med. 2003;42:714-718.
20. Willenberg HS, Späth M, Maser-Gluth C, et al. Sporadic solitary aldosterone- and cortisol-co-secreting adenomas: endocrine, histological and genetic findings in a subtype of primary aldosteronism. Hypertens Res. 2010;33:467-472.
21. Allan CA, Kaltsas G, Perry L, et al. Concurrent secretion of aldosterone and cortisol from an adrenal adenoma - value of MRI in diagnosis. Clin Endocrinol (Oxf). 2000;53:749-753.
22. Fujii H, Kamide K, Miyake O, et al. Primary aldosteronism combined with preclinical Cushing's syndrome in an elderly patient. Circ J. 2005;69:1425-1427.
23. Guthrie GP Jr, Kotchen TA. Hypertension and aldosterone overproduction without renin suppression in Cushing's syndrome from an adrenal adenoma. Am J Med. 1979;67:524-528.
24. Honda T, Nakamura T, Saito Y, Ohyama Y, Sumino H, Kurabayashi M. Combined primary aldosteronism and preclinical Cushing's syndrome: an unusual case presentation of adrenal adenoma. Hypertens Res. 2001;24:723-726.
25. Assié G, Libé R, Espiard S, et al. ARMC5 mutations in macronodular adrenal hyperplasia with Cushing's syndrome. N Engl J Med. 2013;369:2105-2114.
26. Faucz FR, Zilbermint M, Lodish MB, et al. Macronodular adrenal hyperplasia due to mutations in an armadillo repeat containing 5 (ARMC5) gene: a clinical and genetic investigation. J Clin Endocrinol Metab. 2014;99:E1113-E1119.
27. Berthon A, Stratakis CA. From beta-catenin to ARM-repeat proteins in adrenocortical disorders. Horm Metabol Res. 2014;46:889-896.
28. Gagliardi L, Schreiber AW, Hahn CN, et al. Armc5 mutations are common in familial bilateral macronodular adrenal hyperplasia. J Clin Endocrinol Metab. 2014;99:E1784-E1792.
29. Elbelt U, Trovato A, Kloth M, et al. Molecular and clinical evidence for an ARMC5 tumor syndrome: concurrent inactivating germline and somatic mutations are associated with both primary macronodular adrenal hyperplasia and meningioma. J Clin Endocrinol Metab. 2015;100:E119-E128.
30. Funder JW, Carey RM, Fardella C, et al. Case detection, diagnosis, and treatment of patients with primary aldosteronism: an Endocrine Society Clinical Practice Guideline. J Clin Endocrinol Metab. 2008;93:3266-3281.
31. Rossi GP, Belfiore A, Bernini G, et al. Prospective evaluation of the saline infusion test for excluding primary aldosteronism due to aldosterone-producing adenoma. J Hypertens. 2007;25:1433-1442.
32. Webb R, Mathur A, Chang R, et al. What is the best criterion for the interpretation of adrenal vein sample results in patients with primary hyperaldosteronism? Ann Surg Oncol. 2012;19:1881-1886.
33. Papanicolaou DA, Yanovski JA, Cutler GB Jr, Chrousos GP, Nieman LK. A single midnight serum cortisol measurement distinguishes Cushing's syndrome from pseudo-Cushing states. J Clin Endocrinol Metab. 1998;83:1163-1167.
34. Gomez MT, Malozowski S, Winterer J, Vamvakopoulos NC, Chrousos GP. Urinary free cortisol values in normal children and adolescents. J Pediatr. 1991;118:256-258.
35. Hsiao HP, Kirschner LS, Bourdeau I, et al. Clinical and genetic heterogeneity, overlap with other tumor syndromes, and atypical glucocorticoid hormone secretion in adrenocorticotropin-independent macronodular adrenal hyperplasia compared with other adrenocortical tumors. J Clin Endocrinol Metab. 2009;94:2930-2937.
36. Liddle GW. Tests of pituitary-adrenal suppressibility in the diagnosis of Cushing's syndrome. J Clin Endocrinol Metab. 1960;20:1539-1560.
37. MacArthur DG, Manolio TA, Dimmock DP, et al. Guidelines for investigating causality of sequence variants in human disease. Nature. 2014;508:469-476.
38. 1000 Genomes Project Consortium, Abecasis GR, Auton A, Brooks LD, et al. An integrated map of genetic variation from 1,092 human genomes. Nature. 2012;491:56-65.
39. Beuschlein F, Boulkroun S, Osswald A, et al. Somatic mutations in ATP1A1 and ATP2B3 lead to aldosterone-producing adenomas and secondary hypertension. Nat Genet. 2013;45:440-444, 444e1-e2.
40. Carvajal CA, Stehr CB, González PA, et al. A de novo unequal cross-over mutation between CYP11B1 and CYP11B2 genes causes familial hyperaldosteronism type I. J Endocrinol Invest. 2011;34:140-144.
41. Chomette G, Malki B, Auriol M, Karkouche B. Pregnancy toxemia and hyperplasia of the juxtaglomerular apparatus [in French]. Arch Anat Cytol Pathol. 1985;33:175-178.
42. Jeske YW, So A, Kelemen L, et al. Examination of chromosome 7p22 candidate genes RBaK, PMS2 and GNA12 in familial hyperaldosteronism type II. Clin Exp Pharmacol Physiol. 2008;35:380-385.
43. Zilbermint M, Faucz FR, Lodish MB, et al. Macronodular adrenal hyperplasia due to mutations in an armadillo repeat containing 5 (ARMC5) gene: a clinical and genetic investigation. In: Proceedings from the Annual Meeting and Expo of The Endocrine Society; June 21-24, 2014; Chicago, IL. Abstract OR14-1.
44. Tu W, Eckert GJ, Hannon TS, et al. Racial differences in sensitivity of blood pressure to aldosterone. Hypertension. 2014;63:1212-1218.
45. Spence JD. Lessons from Africa: the importance of measuring plasma renin and aldosterone in resistant hypertension. Can J Cardiol. 2012;28:254-257.
46. Kidambi S, Kotchen JM, Grim CE, et al. Association of adrenal steroids with hypertension and the metabolic syndrome in blacks. Hypertension. 2007;49:704-711.
47. Grim CE, Cowley AW Jr, Hamet P, et al. Hyperaldosteronism and hypertension: ethnic differences. Hypertension. 2005;45:766-772.
48. Weder AB, Gleiberman L, Sachdeva A. Whites excrete a water load more rapidly than blacks. Hypertension. 2009;53:715-718.
49. Peppa M, Pikounis V, Papaxoinis G, et al. Adrenocortical carcinoma secreting cortisol, androgens and aldosterone: a case report. Cases J. 2009;2:8951.
50. Yamada M, Nakajima Y, Taguchi R, et al. KCNJ5 mutations in aldosterone- and cortisol-co-secreting adrenal adenomas. Endocr J. 2012;59:735-741.
51. Goodfriend TL, Egan BM, Kelley DE. Aldosterone in obesity. Endocr Res. 1998;24:789-796.
52. Rocchini AP, Katch VL, Grekin R, Moorehead C, Anderson J. Role for aldosterone in blood pressure regulation of obese adolescents. Am J Cardiol. 1986;57:613-618.
53. Chang SP, Morrison HD, Nilsson F, Kenyon CJ, West JD, Morley SD. Cell proliferation, movement and differentiation during maintenance of the adult mouse adrenal cortex. PLoS One. 2013;8:e81865.
54. Freedman BD, Kempna PB, Carlone DL, et al. Adrenocortical zonation results from lineage conversion of differentiated zona glomerulosa cells. Dev Cell. 2013;26:666-673.