Hiperkaliemiczne porażenie okresowe

Porażenie okresowe
Klasyfikacje
ICD-10

G72.3

Hiperkaliemiczne porażenie okresowe (choroba Gamstorp, ang. hyperkalemic periodic paralysis, HYPP, Gamstorp episodic adynamy) – choroba genetyczna z grupy kanałopatii, spowodowana mutacją w genie kanału sodowego SCN4A w locus 17q23.1-q25.3. Dziedziczona jest autosomalnie dominująco. Objawia się napadami osłabienia mięśni, z początkiem w 1. i 2. dekadzie życia, trwającymi od 30 minut do kilku godzin. W rozpoznaniu stosuje się często test wysiłkowy, prowokujący objawy. Chorobę opisała Ingrid Gamstorp w 1956 roku[1].

Choroba występuje znacznie częściej u koni niż u ludzi; objawy i patomechanizm są te same[2].

Leczenie

Leczenie może polegać na podawaniu[3]:

Zobacz też

Przypisy

  1. ↑ Gamstorp I. Adynamia episodica hereditaria. Acta Paediat. 45 (suppl. 108): 1-126 (1956).
  2. ↑ Rudolph JA, Spier SJ, Byrns G, Hoffman EP. Linkage of hyperkalaemic periodic paralysis in quarter horses to the horse adult skeletal muscle sodium channel gene. „Animal genetics”. 3 (23), s. 241–250, styczeń 1992. PMID: 1323940. 
  3. ↑ MedlinePlus: Hyperkalemic periodic paralysis Aktualizacja: 7/25/2006. Zaktualizowane przez: David M. Charytan, M.D., M.Sc., Department of Medicine, Division of Nephrology, Brigham and Women’s Hospital, Boston, MA.

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