Imashuku Shinsaku, Teramura-Ikeda Tomoko, Kudo Naoko, Kaneda Shigehiro, Tajima Toshihiro
Division of Pediatrics, Takasago-seibu Hospital, Takasago;
Pediatr Rep. 2012 Apr 2;4(2):e18. doi: 10.4081/pr.2012.e18.
A 16-year-old Japanese boy with a history of truancy had been treated at a psychiatric clinic. When the patient was referred to us for hypokalemia-associated paralysis, the diagnosis of thyrotoxic hypokalemic periodic paralysis was made, common in Asian men. Subsequently, the patient was found to have persistently high plasma renin and aldos-terone levels. Thus, solute carrier family 12 member 3 gene (SLC12A3) analysis was performed. A novel missense homozygous mutation CTC->CAC at codon 858 (L858H) was found for which the patient was homozygous and his non-consanguineous parents heterozygote. These findings indicated that the patient developed hypokalemia-associated paralysis concurrently with thyrotoxicosis and Gitelman's syndrome. This case underscores the importance of careful examinations of adolescents with complaints of truancy as well as of precise determinations of the causes of hypokalemia-associated paralysis.
一名有逃学史的16岁日本男孩曾在一家精神科诊所接受治疗。当该患者因低钾血症相关性麻痹被转诊至我们这里时,诊断为甲状腺毒症性低钾性周期性麻痹,这在亚洲男性中很常见。随后,发现该患者的血浆肾素和醛固酮水平持续升高。因此,进行了溶质载体家族12成员3基因(SLC12A3)分析。发现了一个新的错义纯合突变,密码子858处的CTC->CAC(L858H),患者为纯合子,其非近亲父母为杂合子。这些发现表明,该患者在患甲状腺毒症的同时并发了低钾血症相关性麻痹和吉特曼综合征。该病例强调了对有逃学主诉的青少年进行仔细检查以及准确确定低钾血症相关性麻痹病因的重要性。