Congenital primary adrenal insufficiency and selective aldosterone defects presenting as salt-wasting in infancy: a single center 10-year experience
Author:
Funder
Institutional funds
Publisher
Springer Science and Business Media LLC
Subject
General Medicine
Link
http://link.springer.com/content/pdf/10.1186/s13052-016-0282-3
Reference25 articles.
1. Hsieh S, White PC. Presentation of primary adrenal insufficiency in childhood. J Clin Endocrinol Metab. 2011;96(6):E925–8.
2. Lin L, Hindmarsh P, Metherell L, Alzyoud M, Al-Ali M, Brain C, et al. Severe loss-of-function mutations in the adrenocorticotropin receptor (ACTHR, MC2R) can be found in patients diagnosed with salt-losing adrenal hypoplasia. Clin Endocrinol (Oxf). 2007;66(2):205–10.
3. Geller DS. Mineralocorticoid resistance. Clin Endocrinol (Oxf). 2005;62(5):513–20.
4. Sopfe J, Simmons JH. Failure to thrive, hyponatremia, and hyperkalemia in a neonate. Pediatr Ann. 2013;42(5):74–9.
5. Furgeson SB, Linas S. Mechanisms of type I and type II pseudohypoaldosteronism. J Am Soc Nephrol. 2012;21(11):1842–5.
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