临床儿科杂志 ›› 2015, Vol. 33 ›› Issue (12): 1009-.doi: 10.3969 j.issn.1000-3606.2015.12.003

• 内分泌遗传代谢性疾病专栏 • 上一篇    下一篇

儿童CACNA1S 基因突变型低钾型周期性麻痹2 例报告

陈霞1,郑荣秀2,阚璇2,申明琪2,孙永梅2   

  1. 1. 中国医学科学院血液学研究所血液病医院儿童血液病诊疗中心( 天津 300020);2. 天津医科大学总医院儿科( 天津 300052)
  • 收稿日期:2015-12-15 出版日期:2015-12-15 发布日期:2015-12-15
  • 通讯作者: 孙永梅 E-mail:2004sunym@126.com

Childhood hypokalemic periodic paralysis with CACNA1S gene mutation: report of two cases

 CHEN Xia1, ZHENG Rongxiu2, KAN Xuan2, SHEN Mingqi2, SUN Yongmei2   

  1. 1. Department of Pediatric Hematology, Institute of Hematology & Blood Diseases Hospital, Chinese Academy of Medical Sciences, Tianjin 300020, China; 2. Department of Pediatrics, General Hospital of Tianjin Medical University, Tianjin 300052, China
  • Received:2015-12-15 Online:2015-12-15 Published:2015-12-15

摘要: 目的 探讨儿童低钾型周期性麻痹(HOKPP) 的临床及基因学特点。方法 回顾性分析2014 年8 月至10收治的2 例低钾型周期性麻痹患儿的临床资料。结果 2 例患儿均以凌晨四肢乏力为首发症状,反复发作/ 逐渐加重,每次持续约2~24 h。发作时血钾明显降低,发作间期血钾正常。患儿及家族基因检测均提示存在CACNA1S 基因突变。予口服补钾及对症治疗后病情缓解。结论 对于反复发作性四肢乏力的患儿需高度警惕低钾型周期性麻痹的可能,基因检测有助于确诊并指导相关治疗。

Abstract:  Objective To study clinical characteristics, diagnosis and treatment of childhood hypokalaemic periodic paralysis. Methods The clinical data from two cases of childhood hypokalaemic periodic paralysis admitted from August 2014 to October 2014 were retrospectively analyzed. Results Both patients had the limb weakness at dawn as the onset symptom. The limb weakness was recurrent and got worse progressively, and each attack lasted approximately 2-24 hours. The serum potassium was low during the attack and the serum potassium was normal during the intermission. CACNA1S gene mutation was detected in both patients and their family members. Oral administration of potassium was effective to relieve the symptom. Conclusions For the children with recurrent limb weakness, great attention should be paid to the possibility of hypokalemic periodic paralysis. Genetic tests may be helpful for the diagnosis and treatment.