Djurhuus M S, Klitgaard N A, Jensen B M, Andersen P E, Schrøder H D
Department of Clinical Biochemistry and Genetics, Odense University Hospital, Denmark.
Acta Paediatr. 1998 Apr;87(4):475-7. doi: 10.1080/08035259850157156.
In this paper a follow-up is presented of a case report initially described by Andersen in 1971. The patient presented with a syndrome including elements of familial periodic paralysis with hypokalaemia, long QT syndrome, ventricular ectopy, myopathy with fibre-type disproportion and dysmorphic features resembling Treacher Collins' syndrome. The main symptom was hypokalaemic paralysis. The episodes were accompanied by a lowered intracellular potassium content and an increase in intracellular sodium. Treatment with terbutaline, a Na/K-ATPase-stimulating drug, resulted in attack-free periods of approximately 9 months, after which the attacks reoccurred. The patient suffered severe attacks whenever treatment with terbutaline was stopped. The patient experienced two attacks of respiratory arrest, the second being fatal.
本文对1971年安徒生最初描述的一例病例报告进行了随访。该患者表现出一种综合征，包括家族性低钾性周期性麻痹、长QT综合征、室性异位、伴有纤维类型比例失调的肌病以及类似特雷彻·柯林斯综合征的畸形特征。主要症状为低钾性麻痹。发作时伴有细胞内钾含量降低和细胞内钠增加。使用特布他林（一种刺激钠钾ATP酶的药物）治疗后，出现了约9个月的无发作期，之后发作再次出现。每当停止使用特布他林治疗时，患者就会遭受严重发作。患者经历了两次呼吸骤停发作，第二次导致死亡。
