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Aldosterone synthase deficiency type II: an unusual presentation of the first Greek case reported with confirmed genetic analysis Cover

Aldosterone synthase deficiency type II: an unusual presentation of the first Greek case reported with confirmed genetic analysis

Open Access
|Aug 2020

References

  1. Bizzarri C, Olivini N, Pedicelli S, Marini R, Giannone G, Cambiaso P, Cappa M. Congenital primary adrenal insufficiency and selective aldosterone defects presenting as salt-wasting in infancy: a single center 10-year experience. Ital J Pediatr 42, 73, 2016.10.1186/s13052-016-0282-3
  2. Hattangady NG, Olala LO, Bollag WB, Rainey WE. Acute and chronic regulation of aldosterone production. Mol Cell Endocrinol 350, 151–162, 2012.10.1016/j.mce.2011.07.034
  3. Jessen CL, Christensen JH, Birkebaek NH, Rittig S. Homozygosity for a mutation in the CYP11B2 gene in an infant with congenital corticosterone methyloxidase deficiency type II. Acta Pædiatrica 101, e519–e525, 2012.10.1111/j.1651-2227.2012.02823.x
  4. Kayes-Wandover Tannin GM, Shulman D, Peled D, Jones KL, Karaviti L, White PC. Congenital hyperreninemic hypoaldosteronism unlinked to the aldosterone synthase (CYP11B2) gene. J Clin Endocrinol Metab 86, 5379–5382, 2001.10.1210/jcem.86.11.8005
  5. Klomchan T, Supornsilchai V, Wacharasindhu S, Shotelersuk V, Sahakitrungruang T. Novel CYP11B2 mutation causing aldosterone synthase (P450c11AS) deficiency. Eur J Pediatr 171, 1559–1562, 2012.10.1007/s00431-012-1792-7
  6. Miaoa H, Yub Z, Lua L, Zhua H, Auchusc RJ, Liuc J, Jiangd J, Pana H, Gonga F, Chena S, Lua Z. Analysis of novel heterozygous mutations in the CYP11B2 gene causing congenital aldosterone synthase deficiency and literature review. Steroids 150, 108448, 2019.10.1016/j.steroids.2019.108448
  7. Storey C, Dauger S, Deschenes G, Heneau A, Baud O, Carel JC, Martinerie L. Hyponatremia in children under 100 days old: incidence and etiologies. Eur J Pediatr 178, 1353–1361, 2019.10.1007/s00431-019-03406-8
  8. Turan I, Κotana D, Tastana M, Gurbuza F, Topaloglua AK, Yuksela B. Molecular genetic studies in a case series of isolated hypoaldosteronism due to biosynthesis defects or aldosterone resistance. Clin Endocrinol (Oxf) 88, 799–805, 2018.10.1111/cen.13603
DOI: https://doi.org/10.2478/enr-2020-0025 | Journal eISSN: 1336-0329 | Journal ISSN: 1210-0668
Language: English
Page range: 227 - 229
Published on: Aug 27, 2020
Published by: Slovak Academy of Sciences, Institute of Experimental Endocrinology
In partnership with: Paradigm Publishing Services
Publication frequency: 1 issue per year

© 2020 Stayroula Papailiou, Elpis Athina Vlachopapadopoulou, Amalia Sertedaki, Despoina Maritsi, Nikolaos Syggelos, Angeliki Syggelou, published by Slovak Academy of Sciences, Institute of Experimental Endocrinology
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.