中华儿科杂志
中華兒科雜誌
중화인과잡지
Chinese Journal of Pediatrics
2015年
1期
57-61
,共5页
杨蕊%谭冬琼%王瑜%叶军%韩连书%邱文娟%顾学范%张惠文
楊蕊%譚鼕瓊%王瑜%葉軍%韓連書%邱文娟%顧學範%張惠文
양예%담동경%왕유%협군%한련서%구문연%고학범%장혜문
尼曼匹克病C型%新生儿胆汁淤积症%NPC1%基因突变
尼曼匹剋病C型%新生兒膽汁淤積癥%NPC1%基因突變
니만필극병C형%신생인담즙어적증%NPC1%기인돌변
Niemann-Pick disease type C%Neonatal cholestasis%NPC1 gene%Mutation analysis
目的 探讨以新生儿胆汁淤积症为首要表现的尼曼匹克病C型的临床特点,提高对尼曼匹克病C型的认识.方法 对3例尼曼匹克病C型患儿的临床特点、实验室检查和影像学表现、基因测序结果进行回顾性分析.结果 3例患儿男2例女1例,2月龄～5岁10个月,均以新生儿病理性黄疸为首发症状,黄疸轻度到中度,胆汁酸56.3 ～ 104.2 μmol/L,总胆红素116.7～182.3 μmol/L,直接胆红素77.8 ～ 133.1 μmol/L,伴肝脾肿大,高密度脂蛋白胆固醇0.65 ～0.79 mmol/L,其中2例X线显示双肺纹理增多.基因测序结果明确3例患儿均携带NPC1基因杂合致病突变:c.2741G ＞T+c.3020C＞C(p.C914F+p.P1007R),c.2177G＞C+c.3734_3735delCT(p.R726T+p.P1245RfsXI2)和c.2054T＞C+c.2128C ＞T (p.I685T +p.Q710X),尼曼匹克病C型诊断明确.结论 新生儿期出现病理性黄疸,伴胆汁淤积症和肝脾肿大者需排除尼曼匹克病C型,NPC1基因检测发现致病性突变能明确诊断.
目的 探討以新生兒膽汁淤積癥為首要錶現的尼曼匹剋病C型的臨床特點,提高對尼曼匹剋病C型的認識.方法 對3例尼曼匹剋病C型患兒的臨床特點、實驗室檢查和影像學錶現、基因測序結果進行迴顧性分析.結果 3例患兒男2例女1例,2月齡～5歲10箇月,均以新生兒病理性黃疸為首髮癥狀,黃疸輕度到中度,膽汁痠56.3 ～ 104.2 μmol/L,總膽紅素116.7～182.3 μmol/L,直接膽紅素77.8 ～ 133.1 μmol/L,伴肝脾腫大,高密度脂蛋白膽固醇0.65 ～0.79 mmol/L,其中2例X線顯示雙肺紋理增多.基因測序結果明確3例患兒均攜帶NPC1基因雜閤緻病突變:c.2741G ＞T+c.3020C＞C(p.C914F+p.P1007R),c.2177G＞C+c.3734_3735delCT(p.R726T+p.P1245RfsXI2)和c.2054T＞C+c.2128C ＞T (p.I685T +p.Q710X),尼曼匹剋病C型診斷明確.結論 新生兒期齣現病理性黃疸,伴膽汁淤積癥和肝脾腫大者需排除尼曼匹剋病C型,NPC1基因檢測髮現緻病性突變能明確診斷.
목적 탐토이신생인담즙어적증위수요표현적니만필극병C형적림상특점,제고대니만필극병C형적인식.방법 대3례니만필극병C형환인적림상특점、실험실검사화영상학표현、기인측서결과진행회고성분석.결과 3례환인남2례녀1례,2월령～5세10개월,균이신생인병이성황달위수발증상,황달경도도중도,담즙산56.3 ～ 104.2 μmol/L,총담홍소116.7～182.3 μmol/L,직접담홍소77.8 ～ 133.1 μmol/L,반간비종대,고밀도지단백담고순0.65 ～0.79 mmol/L,기중2례X선현시쌍폐문리증다.기인측서결과명학3례환인균휴대NPC1기인잡합치병돌변:c.2741G ＞T+c.3020C＞C(p.C914F+p.P1007R),c.2177G＞C+c.3734_3735delCT(p.R726T+p.P1245RfsXI2)화c.2054T＞C+c.2128C ＞T (p.I685T +p.Q710X),니만필극병C형진단명학.결론 신생인기출현병이성황달,반담즙어적증화간비종대자수배제니만필극병C형,NPC1기인검측발현치병성돌변능명학진단.
Objective To analyze the clinical characteristics of three Chinese cases of NiemannPick disease type C patients with neonatal cholestasis as initial presentation,and enhance awareness of Niemann-Pick disease type C among pediatricians.Method Three sporadic cases with confirmed NiemannPick disease type C initially presented as neonatal cholestasis were retrospectively reviewed in this study.Their peripheral blood specimens were collected after obtaining informed consent.All exons and the intronexon boundaries of NPC1 gene were examined by bi-directional sequencing.Result Three patients,1 female and 2 males,aged from 2 months to 5 years and 10 months,all first complained of jaundice in the neonatal period.Laboratory tests showed total bilirubin and direct bilirubin significantly increased with predominant increase of direct bilirubin.Total bile acid,aspartate aminotransferase (AST),and alanine aminotransferase (ALT) were also increased,while high-density lipoprotein cholesterol decreased.All patients were also accompanied by hepatosplenomegaly,with two of them having increased bronchovascular markings in chest X-ray.Two heterozygous changes of NPC1 gene,c.2741G ＞ T + c.3020C ＞ G (p.C914F + p.P1007R),c.2177G ＞ C + c.3734_3735delCT (p.R726T + p.P1245RfsX12),and c.2054T ＞ C + c.2128C ＞T(p.I685T + p.Q710X),were identified in patient 1,2 and 3,respectively.Conclusion We reported three cases suffered from Niemann-Pick disease type C with initial presentation as neonatal cholestasis in the mainland of China.For newborns with prolonged jaundice in the neonatal period,as well as neonatal cholestasis,hepatosplenomegaly,Niemann-Pick type C should be included in consideration of differential diagnosis.Genetic testing can identify causative mutations for diagnosis.
