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时间:2017-12-10
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1、万方数据·66·Johanson—Blizzard综合征一例及文刘志峰张志华李玫金玉练敏唐文伟.临床研究与实践.献复习【摘要】目的提高对Johanson-Blizzard综合征(JBS)的临床和诊断特点的认识。方法讨论l例患儿的临床表现及诊断过程,运用基因检测的结果对诊断加以明确。并综合其他28例有详细临床资料的病例进行分析。结果本例为女性,l岁9个月,以“脂肪泻”收治入院,出生后伴有肛门闭锁、鼻翼发育不全。现生长发育落后,智力发育落后,伴有头发稀疏及少牙畸形;便常规镜检脂肪球(++),血脂肪酶、淀粉酶及胰岛素、C肽水平偏低;腹部CT扫描见胰腺组织为脂肪组
2、织替代;UBRl基因检测发现杂合错义突变,确诊JBS。在包括本例共计29例病例分析中,胰腺外分泌功能不全和鼻翼发育不全最为常见,分别为21例(72.4%)和27例(93%);18例(62%)伴有生长发育异常;17例(59%)伴有神经性听觉减退或丧失;头皮缺损和头发稀疏或异常卷曲分别有20例(69%)和13例(44.8%);甲状腺功能低下13例(44.8%);牙齿畸形13例(44.8%);肛门闭锁6例(2l%)。但是近亲结婚并不常见(3/29,10.3%)。结论JBS是一种罕见的、伴有独特先天性多发畸形的遗传性疾病,其特征表现是先天性胰腺外分泌不足伴有鼻翼发
3、育不全或缺失,可以通过典型临床表现及UBRl基因检测加以明确。【关键词】Johanson.Blizzard综合征;胰腺外分泌功能不全ReportofaeasewithJohanson-BlizzardsyndromeandliteraturesreviewuUzhi垂ng,ZHANGz饥-hua,1_1Mei,JINYu,LIANMin,mⅣG耽凡-weLDepartmentofDigestiveDiseases,NanjingChildren7sHospital,Nqnji鸭MedicalUniversity.Nanjing210008.ChinaCor
4、respondingauthor:finYu(Email:jinyu@如ue比cn)【Abstract】ObjectiveTostudytheclinicalcharacteristicsanddiagnosisoftheJohansou.Blizzardsyndrome.Method,nleclinicalcharacteristicsanddiagnosingprocedureoflca.sewithJobalison.Blizzardsyndromewereanalyzed.andgeneticanalysisWaSmadeindiagnosingp
5、rocedure,and28casesofJohanson—Blizzardsyndromewithdetailedclinicaldatawerereviewedandanalized.ResultAoneyearandninemonthsoldgirl,whowasinitiallyadmittedtothehospitalbecauseoffattydiarrheaandincreasedfrequencyofdefecation.ImperforateanUS。andaplasticalaenabiwasnoticedafterbirth.Onph
6、ysicalexamination.shortstature,mentalretardation。toothabnormalitiesandscalpdefectswereobserved.Fat只lobuleWaSfoundbyroutinestooltesLSerumbiochemistryshowed8.11exocrineandendocrinepancreaticinsufficiency。CTscanoftheabdomendemonstratedfattyreplacementofthepancre.8s。UBRJgeneanalysissh
7、owedheterozygousfortwomissenscchanges.Inall29cases,exocrinepancreaticinsufficiency(72.4%)andhypoplasiaofthealacnasi(93%)werethemostconlInonclinicalmanifestations,andsensorineuralhearingloss(59%),scalpdefects(69%)andhairthinningorupsweepofthehair(44.8%)。hypothyroidism(44.8%),absenc
8、eofpermanentteeth(44.8%)andimperf
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