Journal of Internal Medicine Concepts & Practice >
Evolution of understanding of primary bilateral macronodular adrenal hyperplasia
ZHOU Weiwei, WANG Weiqing . Evolution of understanding of primary bilateral macronodular adrenal hyperplasia[J]. Journal of Internal Medicine Concepts & Practice, 2023 , 18(04) : 239 -241 . DOI: 10.16138/j.1673-6087.2023.04.005
[1] | Bertherat J, Bourdeau I, Bouys L, et al. Clinical, pathophysiologic, genetic, and therapeutic progress in primary bilateral macronodular adrenal hyperplasia[J]. Endocr Rev, 2023, 44(4): 567-628. |
[2] | Cavalcante IP, Berthon A, Fragoso MC, et al. Primary bilateral macronodular adrenal hyperplasia: definitely a genetic disease[J]. Nat Rev Endocrinol, 2022, 18(11): 699-711. |
[3] | Bouys L, Chiodini I, Arlt W, et al. Update on primary bilateral macronodular adrenal hyperplasia(PBMAH)[J]. Endocrine, 2021, 71(3): 595-603. |
[4] | Vassiliadi DA, Tsagarakis S. Diagnosis and management of primary bilateral macronodular adrenal hyperplasia[J]. Endocr Relat Cancer, 2019, 26(10): R567-R581. |
[5] | Louiset E, Duparc C, Young J, et al. Intraadrenal corticotropin in bilateral macronodular adrenal hyperplasia[J]. N Engl J Med, 2013, 369(22): 2115-2125. |
[6] | Assié G, Libé R, Espiard S, et al. ARMC5 mutations in macronodular adrenal hyperplasia with Cushing’s syndrome[J]. N Engl J Med, 2013, 369(22): 2105-2114. |
[7] | Gagliardi L, Schreiber AW, Hahn CN, et al. ARMC5 mutations are common in familial bilateral macronodular adrenal hyperplasia[J]. J Clin Endocrinol Metab, 2014, 99(9): E1784-E1792. |
[8] | 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]. J Clin Endocrinol Metab, 2014, 99(6): E1113-E1119. |
[9] | Espiard S, Drougat L, Libé R, et al. ARMC5 mutations in a large cohort of primary macronodular adrenal hyperplasia: clinical and functional consequences[J]. J Clin Endocrinol Metab, 2015, 100(6): E926-E935. |
[10] | 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]. J Clin Endocrinol Metab, 2015, 100(1): E119-E128. |
[11] | Chasseloup F, Bourdeau I, Tabarin A, et al. Loss of KDM1A in GIP-dependent primary bilateral macronodular adrenal hyperplasia with Cushing’s syndrome: a multicentre, retrospective, cohort study[J]. Lancet Diabetes Endocrinol, 2021, 9(12): 813-824. |
[12] | Vaczlavik A, Bouys L, Violon F, et al. KDM1A inactivation causes hereditary food-dependent Cushing syndrome[J]. Genet Med, 2022, 24(2): 374-383. |
[13] | Violon F, Bouys L, Berthon A, et al. Impact of morphology in the genotype and phenotype correlation of bilateral macronodular adrenocortical disease(BMAD)[J]. Endocr Pathol, 2023, 34(2): 179-199. |
[14] | Lacroix A. Extensive expertise in endocrinology: glucose-dependent insulinotropic peptide-dependent Cushing’s syndrome[J]. Eur J Endocrinol, 2023, 188(3): R56-R72. |
[15] | Meloche-Dumas L, Mercier F, Lacroix A. Role of unilateral adrenalectomy in bilateral adrenal hyperplasias with Cushing’s syndrome[J]. Best Pract Res Clin Endocrinol Metab, 2021, 35(2): 101486. |
[16] | Rubinstein G, Osswald A, Braun LT, et al. The role of adrenal venous sampling(AVS) in primary bilateral macronodular adrenocortical hyperplasia (PBMAH): a study of 16 patients[J]. Endocrine, 2022, 76(2): 434-445. |
[17] | Zhang R, Rubinstein G, Vetrivel S, et al. Steroid profiling using liquid chromatography mass spectrometry during adrenal vein sampling in patients with primary bilateral macronodular adrenocortical hyperplasia[J]. Front Endocrinol (Lausanne), 2022, 13: 1079508. |
[18] | Debillon E, Velayoudom-Cephise FL, Salenave S, et al. Unilateral adrenalectomy as a first-line treatment of Cushing’s syndrome in patients with primary bilateral macronodular adrenal hyperplasia[J]. J Clin Endocrinol Metab, 2015, 100(12): 4417-4424. |
[19] | Osswald A, Quinkler M, Di Dalmazi G, et al. Long-term outcome of primary bilateral macronodular adrenocortical hyperplasia after unilateral adrenalectomy[J]. J Clin Endocrinol Metab, 2019, 104(7): 2985-2993. |
[20] | Lacroix A, Tremblay J, Rousseau G, et al. Propranolol therapy for ectopic beta-adrenergic receptors in adrenal Cushing’s syndrome[J]. N Engl J Med, 1997, 337(20): 1429-1434. |
[21] | St-Jean M, Bourdeau I, Martin M, et al. Aldosterone is aberrantly regulated by various stimuli in a high proportion of patients with primary aldosteronism[J]. J Clin Endocrinol Metab, 2021, 106(1): e45-e60. |
/
〈 |
|
〉 |