Co-Existence of Congenital Adrenal Hyperplasia and Familial Hypokalemic Periodic Paralysis due to CYP21A2 and SCN4A Pathogenic Variants
نویسندگان
چکیده
منابع مشابه
SCN4A-associated hypokalemic periodic paralysis merits a trial of acetazolamide.
Neurology S. L. Venance, K. Jurkat-Rott, F. Lehmann-Horn and R. Tawil SCN4A-associated hypokalemic periodic paralysis merits a trial of acetazolamide This information is current as of November 24, 2007 http://www.neurology.org/cgi/content/full/63/10/1977 located on the World Wide Web at: The online version of this article, along with updated information and services, is All rights reserved. Pri...
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Hypokalemic periodic paralysis (HypoPP) is an autosomal dominant disorder characterized by episodic attacks of muscle weakness associated with a decrease in blood potassium levels. Recently, mutations in the gene coding for the skeletal muscle voltage-gated sodium channel alpha subunit (SCN4A) have been reported. We detected the R672H mutation in one HypoPP Turkish family.
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Although acute onset hypokalaemic paralysis is an uncommon cause of acute weakness, morbidity and mortality may occur due to respiratory failure and cardiac arrhythmias. Therefore it is important for a physician to have an idea regarding the underlying causes and its prompt management. To the best of our knowledge, this is the first case of congenital adrenal hyperplasia (11 beta hydroxylase de...
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Mutations in CACNA1S (calcium channel, voltage‑dependent, L type, alpha 1S subunit) and SCN4A (sodium channel, voltage‑gated, type IV, alpha subunit) are associated with hypokalemic periodic paralysis (HPP). The aim of the current study was to investigate CACNA1S and SCN4A mutations in patients with HPP. Mutations in CACNA1S and SCN4A were detected in three familial hypokalemic periodic paralys...
متن کاملPrimary hypokalemic periodic paralysis.
Primary hypokalemic periodic paralysis (PHPP) is a rare entity first described by Shakanowitch in 1882. Only a few cases of PHPP have been reported in Indian literature in adults(l). In children hypokalemic paralysis secondary to gastroenteritis and chronic renal disease is much more common than primary disease(2). We hereby report a case of PHPP in a child, successfully managed with acetazolam...
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ژورنال
عنوان ژورنال: Journal of Clinical Research in Pediatric Endocrinology
سال: 2020
ISSN: 1308-5727,1308-5735
DOI: 10.4274/jcrpe.galenos.2020.2020.0219