Confirming Genetic Abnormalities of Hypokalemic Periodic Paralysis Using Next-Generation Sequencing: A Case Report and Literature Review.
Arrhythmia
Genetic diseases
Hypokalemic periodic paralysis
Journal
Electrolyte & blood pressure : E & BP
ISSN: 1738-5997
Titre abrégé: Electrolyte Blood Press
Pays: Korea (South)
ID NLM: 101249217
Informations de publication
Date de publication:
Jun 2021
Jun 2021
Historique:
received:
23
03
2021
revised:
12
05
2021
accepted:
13
05
2021
entrez:
22
7
2021
pubmed:
23
7
2021
medline:
23
7
2021
Statut:
ppublish
Résumé
Hypokalemic periodic paralysis (hypoPP) is a disorder characterized by episodic, short-lived, and hypo-reflexive skeletal muscle weakness. HypoPP is a rare disease caused by genetic mutations related to expression of sodium or calcium ion channels. Most mutations are associated with autosomal dominant inheritance, but some are found in patients with no relevant family history. A 28-year-old man who visited the emergency room for paralytic attack was assessed in this study. He exhibited motor weakness in four limbs. There was no previous medical history or family history. The initial electrocardiogram showed a flat T wave and QT prolongation. His blood test was delayed, and sudden hypotension and bradycardia were observed. The blood test showed severe hypokalemia. After correcting hypokalemia, his muscle paralysis recovered without any neurological deficits. The patient's thyroid function and long exercise test results were normal. However, because of the history of high carbohydrate diet and exercise, hypoPP was suspected. Hence, next-generation sequencing (NGS) was performed, and a mutation of Arg669His was noted in the
Identifiants
pubmed: 34290819
doi: 10.5049/EBP.2021.19.1.10
pmc: PMC8267070
doi:
Types de publication
Case Reports
Langues
eng
Pagination
10-14Informations de copyright
Copyright © 2021 Korean Society for Electrolyte and Blood Pressure Research.
Références
QJM. 2001 Mar;94(3):133-9
pubmed: 11259688
Curr Cardiol Rep. 2014 Jul;16(7):507
pubmed: 24893940
Neurology. 2004 Nov 9;63(9):1647-55
pubmed: 15534250
Adv Genet. 2008;63:3-23
pubmed: 19185183
J Korean Med Sci. 2007 Dec;22(6):946-51
pubmed: 18162704
JAMA Intern Med. 2021 Mar 1;181(3):374-376
pubmed: 33315059
Muscle Nerve. 2018 Apr;57(4):522-530
pubmed: 29125635
Channels (Austin). 2015;9(2):82-7
pubmed: 25839108
Electrolyte Blood Press. 2012 Dec;10(1):18-25
pubmed: 23508689
Brain. 2006 Jan;129(Pt 1):8-17
pubmed: 16195244
N Engl J Med. 1998 Aug 13;339(7):451-8
pubmed: 9700180