发育医学电子杂志
髮育醫學電子雜誌
발육의학전자잡지
Journal of Developmental Medicine (Electronic Version)
2015年
3期
152-155
,共4页
激素耐药型肾病综合征%LAMB2基因突变%二代测序
激素耐藥型腎病綜閤徵%LAMB2基因突變%二代測序
격소내약형신병종합정%LAMB2기인돌변%이대측서
Steroid resistant nephrotic syndrome%LAMB2 gene mutations%the next-generation sequencing
目的通过对1例激素耐药型肾病综合征（steroid-resistant nephrotic syndrome, SRNS）的男性患儿的临床表现和基因突变特点分析，提高对该病及Pierson综合征的认识。方法对先证者行详细体格检查、各项血生化指标检测、肾脏组织活检病理类型分析，采用二代外显子测序技术分析先证者SRNS相关的21种基因。结果先证者血生化检测显示大量蛋白尿（24小时尿微量总蛋白4329.9 mg/24 h），低白蛋白血症（白蛋白24.0 g/L），高脂血症（总胆固醇15.46 mmol/L）；肾活检：局灶节段性肾小球硬化（门周型）。眼部检查未发现异常。给予多靶点治疗（激素+他克莫司+霉酚酸酯）后患儿仍持续中到大量蛋白尿、低白蛋白血症。遂行基因分析显示先证者LAMB2基因编码区存在复合杂合突变：Exon27c.4370G>A，导致p.R1457Q；Exon23c.3325G>A，导致p.E1109K。根据以上临床资料，总结复习相关文献。结论该患儿通过二代测序确定LAMB2的复合杂合突变是导致激素SRNS的原因；无论是否存在肾外症状均应进行相关基因分析,除外LAMB2基因突变所致激素SRNS。
目的通過對1例激素耐藥型腎病綜閤徵（steroid-resistant nephrotic syndrome, SRNS）的男性患兒的臨床錶現和基因突變特點分析，提高對該病及Pierson綜閤徵的認識。方法對先證者行詳細體格檢查、各項血生化指標檢測、腎髒組織活檢病理類型分析，採用二代外顯子測序技術分析先證者SRNS相關的21種基因。結果先證者血生化檢測顯示大量蛋白尿（24小時尿微量總蛋白4329.9 mg/24 h），低白蛋白血癥（白蛋白24.0 g/L），高脂血癥（總膽固醇15.46 mmol/L）；腎活檢：跼竈節段性腎小毬硬化（門週型）。眼部檢查未髮現異常。給予多靶點治療（激素+他剋莫司+黴酚痠酯）後患兒仍持續中到大量蛋白尿、低白蛋白血癥。遂行基因分析顯示先證者LAMB2基因編碼區存在複閤雜閤突變：Exon27c.4370G>A，導緻p.R1457Q；Exon23c.3325G>A，導緻p.E1109K。根據以上臨床資料，總結複習相關文獻。結論該患兒通過二代測序確定LAMB2的複閤雜閤突變是導緻激素SRNS的原因；無論是否存在腎外癥狀均應進行相關基因分析,除外LAMB2基因突變所緻激素SRNS。
목적통과대1례격소내약형신병종합정（steroid-resistant nephrotic syndrome, SRNS）적남성환인적림상표현화기인돌변특점분석，제고대해병급Pierson종합정적인식。방법대선증자행상세체격검사、각항혈생화지표검측、신장조직활검병리류형분석，채용이대외현자측서기술분석선증자SRNS상관적21충기인。결과선증자혈생화검측현시대량단백뇨（24소시뇨미량총단백4329.9 mg/24 h），저백단백혈증（백단백24.0 g/L），고지혈증（총담고순15.46 mmol/L）；신활검：국조절단성신소구경화（문주형）。안부검사미발현이상。급여다파점치료（격소+타극막사+매분산지）후환인잉지속중도대량단백뇨、저백단백혈증。수행기인분석현시선증자LAMB2기인편마구존재복합잡합돌변：Exon27c.4370G>A，도치p.R1457Q；Exon23c.3325G>A，도치p.E1109K。근거이상림상자료，총결복습상관문헌。결론해환인통과이대측서학정LAMB2적복합잡합돌변시도치격소SRNS적원인；무론시부존재신외증상균응진행상관기인분석,제외LAMB2기인돌변소치격소SRNS。
Objective The aim of this study was to improve understanding evaluate know more about the steroid resistance nephrotic syndrome and Pierson syndrome from the case of a male patient of steroid-resistance nephrotic syndrome withLAMB2 mutations but without the ocular abnormality.MethodBiopsy and the next generation sequencingwere performed in the 8-year-old boy presenting with steroid-resistance nephrotic syndrome.ResultsLaboratory data showed that total serum albumin 24.0 g/L, total cholesterol 15.46 mmol/L, and 24 hours urine protein was 4329.9 mg. Renal biopsy showed focal segmental glomerular sclerosis(FSGS). Ophthalmic examination didn't indicate any abnormity. Multitarget-treatment was given, but the patient continues having the massive proteinuria and hypoproteinemia. The novel compound heterozygous mutations ofLAMB2 [c.4370G>A (p.R1457Q) and c.3325G>A(p.E1109K)]were found by the next generation sequencing (NGS) of 21 genes for congenital nephrotic syndrome and thereafter confirmed by Sanger sequencing.Conclusions The novel compound heterozygousLAMB2 mutation was seen in the case of SRNS. Gene mutations should be taken into considering to those patients with steroid resistant nephritic syndrome or nephrotic range proteinuria regardless of accompanying extrarenal abnormalities..
