CAJ | 학술논문

目的分析并确定一个全面性癫痫伴热性惊厥附加症(GEFS+)家系临床表型. 方法收集先证者及其家系成员临床资料进行分析总结并建立完善的家系谱. 结果该家系为典型GEFS+家系,6代共有20例受累成员,临床表型9例为热性惊厥(FS),4例为热性惊厥附加症(FS+). 结论 GEFS+具有表型异质性和遗传异质性,常见表型为FS和FS+,为常染色体显性遗传,家族史调查是诊断该病的关键.
목적 분석병학정일개전면성전간반열성량궐부가증(GEFS+)가계림상표형. 방법 수집선증자급기가계성원림상자료진행분석총결병건립완선적가계보. 결과 해가계위전형GEFS+가계,6대공유20례수루성원,림상표형9례위열성량궐(FS),4례위열성량궐부가증(FS+). 결론 GEFS+구유표형이질성화유전이질성,상견표형위FS화FS+,위상염색체현성유전,가족사조사시진단해병적관건.
Objective To identify and analyze the genotype-phenotype correlations in a Chinese family with generalized epilepsy with febrile seizures plus (GEFS+) and its inheritance. Methods The clinical data of the proband and other available members in the GETS+ family were investigated and analyzed; their MRI and electroencephalogram were provided; the drug therapy was adjusted in patients still having seizures; at last,complete family constellation was set up. Results There were 20 affected members in the six-generation family,in which 9 were with febrile seizures (FS) and 4 with febrile seizures plus (FS+).Three patients died at an early age,and their treatment methods were un-known; 10patients accepted informal anti-epileptic treatment, and the other 7 accepted anti-epileptic treatments and/or other treatments.All patients,except the proband,had a good prognosis; most patients were seizure-free before the age of puberty; only 3 patients had occasional seizures after the puberty.Conclusion The heterogeneity of phenotypes and genetics may be the hallmarks of GETS+; FS and FS+are the common phenotypes; it is speculated that the hereditary pattern of GEFS+ conforms to be the autosomal dominant inheritance; family history is the key of final diagnosis.