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1、Wilson病37例诊断及分析作者：朱键，周力，陈晓琴单位：贵阳医学院附属医院消化内科，贵州贵阳550004【摘要】目的探讨诊断Wilson病(HLD)的临床特点，不同辅助检查的价值，提高HLD的诊断。方法：冋顾性分析按Sternlieb标准确诊的37例住院患者的临床特点及检查结果。结果：①19例患者以川:功能损害为主;11例以神经系统症状为主;3例表现为血尿;2例以贫.血为主：2例表现为关节疼痛。②3例有阳性家族史;31例血清铜蓝蛋H低于200mgL,角膜Kayser-Fleischer环阳性率达89.19%;所有患者尿铜排泄均高于100μg24h。③1
2、2例患者行头颅CT检查，8例发现基底节，豆状核等异常低密度灶;8例行头颅MRI检査，5例显示基底节，豆状核等处异常信号。结论：早期诊断及治疗是肝豆状核变性预后的关键。为了避免谋诊，对诊断不清的具有肝功能损害，或神经系统症状，或血尿，贫血等症状的患者，检杏角膜Kayser-Fleischer环，铜代谢，细致的询问家族史十分重要。必要时行头颅CT及MRI检查。【关键词】肝豆状核变性;诊断;分析Diagnosisandanalysisofhepatolenticulardegenerationin37casesZHUJian,ZHOULi,CHENXiao-qin(G
3、uiyangMedicalCollegeAffiliatedHospital,Guiyang550004,China)Abstract：ObjectiveToexploretheclinicalfeature,valuesofvariousaccessoryexaminationinthediagnosisofpatientswithhepatolenticulardegeneration(HLD)inordertoimprovediagnosisofthedisease.MethodTheclinicalfeaturesandvariousaccessorye
4、xaminationof37caseswiththeconfinneddiagnosisofHLDaccordingtoSternliebstandardwhowerehospitalizedinourhospitalduringDecember1998toOctober2007wereanalyzedretrospectively.Results①Themostclinicalfeatureswereliverdysfunctionin19cases,centralnervoussystemsymptomsin1leaseshematuriain3cases,
5、anemiain2casesandjointpainin2cases.©Threecaseshadthepositivefamilyhistory.Theceruloplasmin(CP)in31patientswasbelow2(X)mgL.ThepositiverateofcorneaKayser-Fleischerringwas89.19%.Theurinarycopperexcretionsinallcaseswashigherthan100μg24h•③The8casesof12patientsexaminedbycranialCTshoweda
6、bnormallowdensitylesioninbasalganglia,lentiformnucleus,andsoon.The5casesof8patientsexaminedbycranialMRIshowedabnormalsignsinbasalganglia,lentiformnucleus,andsoon.ConclusionEarlydiagnosisandtreatmentisthekeytotheprognosis.Inordertoavoidmisdiagnosis,withthepatientswhofailtogetacleardia
7、gnosisandwithliverdysfunction,manifestationofcentralnervoussystem,hematuriaoranemia,itisessentialtocheckcorneaKayser-Fleischerring,coppermetabolismandrequirecarefullythefamilyhistory.CranialCT,MRIshouldbeadoptedwhennecessary.Wilson病又称肝脑变性，肝豆状核变性(hepatolenticulardegeneration)o是一•种遗传代谢
8、障碍所引发的全身性疾病，
