Vendrame Francesco, Verrienti Antonella, Parlapiano Claudio, Filetti Sebastiano, Dotta Francesco, Morano Susanna
Diabetes Research Institute, Miller School of Medicine, University of Miami, Miami, FL 33136, USA.
Ann Clin Biochem. 2008 Mar;45(Pt 2):218-20. doi: 10.1258/acb.2007.007117.
In Western countries, thyrotoxic periodic paralysis (TPP) is a rare condition with only sporadic cases described so far. Here, we describe a 29-year-old Italian man who presented with leg weakness and hypokalaemia. Treatment with intravenous potassium resulted in a rapid resolution of symptoms. TPP as the underlying cause was suggested by suppressed thyroid-stimulating hormone (TSH), elevated free T3 and free T4, and the presence of TSH-receptor antibodies (TRAB). Genetic analysis showed no mutations in the candidate exons of calcium (CACN1AS), potassium (KCNE3) and sodium (SCN4A) channel genes. However, we identified the presence of two single nucleotide polymorphisms (SNPs), 1491C > T and 1551 T > C, in exon 11 of the CACN1AS gene. Although the 1491C > T SNP is not apparently involved in the pathogenesis of the disease, the 1551 T > C SNP has been associated with TPP in Asians and reported in only one case in European Caucasians. Further investigations are needed to clarify whether such polymorphisms have a role in the disease pathogenesis in Caucasians.
在西方国家，甲状腺毒症性周期性瘫痪（TPP）是一种罕见疾病，目前仅有散发病例的报道。在此，我们描述一名29岁的意大利男性，他出现腿部无力和低钾血症。静脉补钾治疗后症状迅速缓解。促甲状腺激素（TSH）降低、游离T3和游离T4升高以及促甲状腺激素受体抗体（TRAB）的存在提示TPP为潜在病因。基因分析显示钙（CACN1AS）、钾（KCNE3）和钠（SCN4A）通道基因的候选外显子无突变。然而，我们在CACN1AS基因第11外显子中发现了两个单核苷酸多态性（SNP），即1491C>T和1551T>C。虽然1491C>T SNP显然未参与疾病的发病机制，但1551T>C SNP在亚洲人中与TPP相关，在欧洲白种人中仅报道过1例。需要进一步研究以阐明此类多态性在白种人疾病发病机制中是否起作用。
