Clinical and Experimental Pediatrics

대한소아청소년과학회 (The Korean Pediatric Society)
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가족성 저칼륨성 주기성 마비 1예

An Arg1239His mutation of the CACNL1A3 gene in a Korean family with hypokalemic periodic paralysis

  • 여채영 (전남대학교 의과대학 소아과학교실) ;
  • 김영옥 (전남대학교 의과대학 소아과학교실) ;
  • 김명규 (전남대학교 의과대학 신경과학교실) ;
  • 김지윤 (전남대학교 의과대학 소아과학교실) ;
  • 조영국 (전남대학교 의과대학 소아과학교실) ;
  • ;
  • 우영종 (전남대학교 의과대학 소아과학교실)
  • Yeo, Chae Young (Department of Pediatrics, Chonnam National University Medical School) ;
  • Kim, Young Ok (Department of Pediatrics, Chonnam National University Medical School) ;
  • Kim, Myeong Kyu (Department of Neurology, Chonnam National University Medical School) ;
  • Kim, Ji Youn (Department of Pediatrics, Chonnam National University Medical School) ;
  • Cho, Young Kuk (Department of Pediatrics, Chonnam National University Medical School) ;
  • Kim, Chan Jong (Department of Pediatrics, Chonnam National University Medical School) ;
  • Woo, Young Jong (Department of Pediatrics, Chonnam National University Medical School)
  • 투고 : 2008.03.08
  • 심사 : 2008.05.26
  • 발행 : 2008.07.15
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초록

가족성 저칼륨성 주기성 마비는 골격근에 존재하는 ion channel의 장애로 인해 저칼륨혈증과 연관되어 나타나는 주기성 이완성 마비를 보이는 드문 유전 질환이다. 이 질환의 발생에 관여하는 유전자로는 골격근육의 1q31-32 염색체에 위치하는 칼슘 채널과 나트륨 채널의 alpha subunit을 encoding하는 CACNA1S gene과 SCN4A gene이 밝혀져 있다. 국내에서도 소아의 가족성 저칼륨성 주기성 마비가 수 예 보고된 바 있지만, 유전자 분석을 통해 변이가 확인된 예는 드물다. 이에 우리는 CACNA1S의 Arg1239His 변이에 의한 저칼륨성 주기성 마비로 진단된 12세 환아의 증례를 보고하는 바이다. 이 변이는 현재까지 알려진 CACNA1S의 변이 중 비교적 흔한 것으로 알려져 있으나, 국내에서는 보고된 바가 없다. 저자들은 경구 acetazolamide와 칼륨 복용, 유발인자를 회피할 것을 교육함으로써 이 환아를 치료했으며, 현재 환아는 주기성 마비의 빈도와 중증도의 개선을 보이며 삶의 질 역시 향상되었다.

Familial hypokalemic periodic paralysis (hypoPP) is a rare inherited channelopathy that often presents with episodic weakness accompanied by hypokalemia. Thus far, mutations in the gene encoding two ion channels (CACNL1A3, L-type calcium channel alpha-1 subunit and SCN4A, a sodium channel type IV alpha subunit) have been identified. Several cases of familial hypoPP in children have been reported in Koreans, but there are only a few cases with identified mutations. We report a 12-year-old boy and his affected mother with hypoPP who has a heterozygous G to A substitution at codon 1239 in exon 30 of the CACNL1A3 gene that causes a change from arginine to histidine (Arg1239His, CACNL1A3). This mutation is common among Caucasians; however, it has not yet been reported in Koreans. The patients were treated with oral acetazolamide and potassium replacement and were instructed to avoid precipitating factors. After the medication and lifestyle modification, the paralytic attacks significantly decreased.

키워드

참고문헌

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