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·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．ChinaCorrespondingauthor：finYu(Email：jinyu@如ue比cn)【Abstract】ObjectiveTostudytheclinicalcharacteristicsanddiagnosisoftheJohansou．Blizzardsyndrome．Method，nleclinicalcharacteristicsanddiagnosingprocedureoflca．sewithJobalison．Blizzardsyndromewereanalyzed．andgeneticanalysisWaSmadeindiagnosingprocedure，and28casesofJohanson—Blizzardsyndromewithdetailedclinicaldatawerereviewedandanalized．ResultAoneyearandninemonthsoldgirl，whowasinitiallyadmittedtothehospitalbecauseoffattydiarrheaandincreasedfrequencyofdefecation．ImperforateanUS。andaplasticalaenabiwasnoticedafterbirth．Onphysicalexamination．shortstature，mentalretardation。toothabnormalitiesandscalpdefectswereobserved．Fat只lobuleWaSfoundbyroutinestooltesLSerumbiochemistryshowed8．11exocrineandendocrinepancreaticinsufficiency。CTscanoftheabdomendemonstratedfattyreplacementofthepancre．8s。UBRJgeneanalysisshowedheterozygousfortwomissenscchanges．Inall29cases，exocrinepancreaticinsufficiency(72．4％)andhypoplasiaofthealacnasi(93％)werethemostconlInonclinicalmanifestations，andsensorineuralhearingloss(59％)，scalpdefects(69％)andhairthinningorupsweepofthehair(44．8％)。hypothyroidism(44．8％)，absenceofpermanentteeth(44．8％)andimperforateanus(2l％)werealsoverycommon，butdidnotineludeconsanguineousmarriageofpaerents(10．3％)．ConclusionJohanson．Blizzardsyndromeisarareautosomalrecessivemuhisystemdisorder．itischaracterizedbytheassociafionofcongenitalexoerinepancreaticinsufficiencyandhypoplasiaoraplasiaofthenasalwings，andcallbediagnosedbyclinicalcharacteristicsandUBRlgeneanalysis．【Keywords】Johanson—Blizzardsyndrome；ExocrinepancreaticinsufficiencyJohanson-Blizzard综合征(JBS)是一种罕见的、伴有独特先天性多发畸形的遗传性疾病㈣1。主要特征表现是先天性胰腺外分泌不足伴有鼻翼发育不DOl：10．3760／ema．j．isen．0578·1310．201I．01．014作者单位：210008南京医科大学附属南京儿童医院消化科(刘志峰、张志华、李玫、金玉、练敏)，放射科(唐文伟)通信作者：金玉(Email：jinyu@hat．edu．∞)全或缺损。2009年本院收治l例JBS患者，此例为中国首次...