CAV3基因突变引起轻微症状高肌酸激酶血症1例

A case of CAV3 gene mutation causing pauci-symptomatic hyperCKemia.

肌酸激酶(creatinekinase,CK)升高可能与内分泌疾病、神经肌肉病、心肌梗死、创伤等多种疾病相关,无症状/轻微症状高CK血症的病因常难诊断。编码小窝蛋白3(caveolin-3,Cav-3)的CAV3基因突变引起轻微症状高CK血症目前鲜有报道,本文报告1例29岁高CK血症女性,表现为反复肌肉酸痛、血清CK水平升高,基因检测示CAV3基因p.A46T(c.136G>A)杂合突变。

High creatine kinase(CK)levels can be associated with many disorders,including endocrine,neuromuscular,cardiac and traumatic.As a result,the cause of asymptomatic or pauci-symptomatic hyperCKemia is often a diagnostic dilemma.Pauci-symptomatic hyperCKemia caused by mutation of CAV3 gene which encoding caveolin-3 was rarely reported.We reported a case of a 29-year-old Chinese woman who presented with repeated fever,muscle pain and elevated serum CK level,and gene test showed a heterozygous p.A44T(c.136G>A)CAV3 mutation.This case report was aiming to improve the recognition,diagnosis and treatment of this disease.