SCARB2基因突变致动作性肌阵挛癫痫肾衰竭综合征1例

A case of action myoclonus-renal failure syndrome caused by SCARB2 gene mutation

文中报道1例动作性肌阵挛癫痫-肾衰竭综合征(AMRF)患者的临床、电生理、肾脏病理及基因突变特点。患者为青年男性,16岁以癫痫起病,逐渐出现震颤、共济失调、肌阵挛发作。颅脑磁共振成像未见明显异常。神经电生理表现为四肢对称性、多发性感觉神经和运动神经传导速度减慢,以神经易嵌压部位为著。肾脏病理表现为局灶性节段性肾小球硬化。基因检测发现该患者SCARB2基因存在新的复合杂合突变:c.534_537delinsCT(chr4:7710074)及c.358G>T(chr4:7710217),经过家系验证2处杂合突变分别来自患者父母。AMRF是青少年癫痫中的罕见类型,本病早期表现为肌阵挛或肾功能异常,临床异质性较大,容易误诊漏诊。其最终确诊依赖基因检测。

The article reported the clinical,electrophysiological,renal pathology and gene mutation characteristics of a patient with action myoclonus-renal failure syndrome(AMRF).The patient was a young male who developed epilepsy at the age of 16 and gradually developed tremor,ataxia,and myoclonic seizures.Brain magnetic resonance imaging was normal.The electrophysiological manifestations of the nerve were symmetrical multiple sensory and motor nerve conduction velocity deceleration,especially the easily embedded site of the nerve.Renal pathology showed focal segmental glomerulosclerosis.A new complex heterozygous mutation of SCARB2 gene c.534_537delinsCT(chr4:7710074)and c.358G>T(chr4:7710217)was detected in the patient and verified by his family.The 2 heterozygous mutations were respectively from the patient′s parents.AMRF is a rare type of epilepsy in adolescents.The early manifestations were myoclonus or abnormal renal function,with great clinical heterogeneity and easy to be misdiagnosed and missed diagnosis.The final diagnosis depends on genetic testing.