CAJ | 학술논문

目的分析1例系统性红斑狼疮(SLE)合并Fabry病患者家系临床资料、酶学和基因学的特点.方法收集患者及其家系成员的临床资料,抽取患者家系中3名成员外周血,底物荧光法进行酶活性检测,并对其中1名酶活性显著降低的男性家系成员进行基因组DNA提取,对GLA基因的7个外显子和旁侧内含子的序列进行聚合酶链反应(PCR)产物直接测序,检测是否存在突变.结果家系中2名成员外周血白细胞酶活性降低;其中的男性家系成员的基因检测显示GLA基因外显子2有错义突变:c.334C＞T( CGC＞TGC)(p.R112C);除先证者本人外,其他家系成员均无明确的SLE证据.结论 SLE合并Fabry病极其罕见;对于难以鉴别的患者需及时进行自身抗体及GLA酶学或者基因学的检测.
목적 분석1례계통성홍반랑창(SLE)합병Fabry병환자가계림상자료、매학화기인학적특점.방법 수집환자급기가계성원적림상자료,추취환자가계중3명성원외주혈,저물형광법진행매활성검측,병대기중1명매활성현저강저적남성가계성원진행기인조DNA제취,대GLA기인적7개외현자화방측내함자적서렬진행취합매련반응(PCR)산물직접측서,검측시부존재돌변.결과 가계중2명성원외주혈백세포매활성강저;기중적남성가계성원적기인검측현시GLA기인외현자2유착의돌변:c.334C＞T( CGC＞TGC)(p.R112C);제선증자본인외,기타가계성원균무명학적SLE증거.결론 SLE합병Fabry병겁기한견;대우난이감별적환자수급시진행자신항체급GLA매학혹자기인학적검측.
Objective To analyze the clinical information of a family with one patient who have systemic lupus erythematosus (SLE) and Fabry disease,as well as the enzymatic activity and gene mutation in these family members.Methods Clinical characteristics were collected from the proband and her family members.Peripheral blood samples from three members of this family were collected and the enzymatic activity was measured by fluorimetrie substrate assay.Genomic DNA was extracted from one male member with significantly decreased enzyme activity,the 7 exons and their flanking introns of GLA gene were amplified by PCR and directly sequenced.Results The enzyme activity of two family members was significantly decreased,the genetic analysis of the male member revealed a missense mutation in exon 2:c.334C＞T (CGC＞TGC)( p.R112C ).Family members except the proband had no definite evidence to support the presence of SLE.Conclusion The coexistence of SLE and Fabry disease is extremely rare.Immunological test,enzymatic activity and gene mutation analysis seem to be helpful for the differential diagnosis.