Salbutamol treatment in a patient with hyperkalaemic periodic paralysis due to a mutation in the skeletal muscle sodium channel gene (SCN4A).
A 35 year old woman with clinical features of hyperkalaemic periodic paralysis confirmed on provocative exercise testing was investigated. DNA sequence analysis of the gene for the alpha-subunit of the skeletal muscle voltage gated sodium channel (SCN4A) on chromosome 17q23 identified a point mutation at nucleotide position 2188. This results in a threonine to methionine substitution at amino acid position 704. The patient was intolerant of diuretic medication but showed a striking clinical and electrophysiological improvement with salbutamol therapy. Treatment with beta-adrenergic agents should be considered in patients with hyperkalaemic periodic paralysis who are intolerant of, or resistant to, diuretic medications.
Department of Clinical Neurology, Institute of Neurology, London, UK. mhanna@ion.ucl.ac.uk
M G
MG
Hanna
J
J
Stewart
A H
AH
Schapira
N W
NW
Wood
J A
JA
Morgan-Hughes
N M
NM
Murray
D000318:Adrenergic beta-Agonists / Q000627:therapeutic use*; D000328:Adult; D000420:Albuterol / Q000627:therapeutic use*; D002886:Chromosomes, Human, Pair 17; D004252:DNA Mutational Analysis; D004576:Electromyography / Q000187:drug effects; D005080:Exercise Test / Q000187:drug effects; D005260:Female; D006801:Humans; D006947:Hyperkalemia / Q000188:drug therapy / Q000235:genetics*; D062553:NAV1.4 Voltage-Gated Sodium Channel; D010245:Paralyses, Familial Periodic / Q000188:drug therapy / Q000235:genetics*; D017354:Point Mutation / Q000235:genetics*; D015222:Sodium Channels / Q000235:genetics*
D000318:Adrenergic beta-Agonists; D062553:NAV1.4 Voltage-Gated Sodium Channel; C106251:SCN4A protein, human; D015222:Sodium Channels; D000420:Albuterol