儿童肝豆状核变性的诊断体会与治疗效果

DiagnosticExperienceandTherapeuticResultsinChildrenwithHepatolentlcularDegeneration

为总结儿童肝豆状核变性（ＨＬＤ）诊断经验与疗效，对６８例病儿进行临床分析，并对３１例用大剂量硫酸锌加小剂量青霉胺治疗者进行４～１１年随访。结果显示５８例（８５％）角膜Ｋ－Ｆ环阳性，５７例（８４％）血清铜氧化酶光密度减低，５９例（８７％）血铜降低，６５例（９６％）尿铜增加。随访显示８２％有症状病儿于治疗后６～１２个月内明显好转，全部病儿尿铜于２年内降至正常。表明角膜Ｋ－Ｆ环、铜氧化酶光密度、血及尿铜测定可使绝大多数病儿确诊，硫酸锌与青霉胺联合治疗ＨＬＤ安全有效。

Tosummarizethediagnosticexperienceandtherapeuticresultsinchildrenwithhepatolenticulardegeneration(HLD),theclinicalmaterialsof68patientswasanalyzed,andafollowupof31casesreceivedlargedosezincsulfateandlowdosepenicillaminefor411yearswasstudiedThe resultshowedthatKFringswerefoundin58cases(85%),theactivityofserumcopperoxidasedecreasedin57cases(84%),bloodcopperdecreasedin59cases(87%)andurinecopperof24hoursincreasedin65cases(96%)Clinicalsymptomsandsignsweredisappearedessentiallyormuchimprovedin82%among28symptomaticpatients;Urinecopperexcretionof24hoursbecamenormalinallcasesafter2yearsoftreatmentTheresultssuggestedthatmostpatientscanbediagnosedbytheexaminationsofKFrigns,activityofserumcopperoxidase,bloodandurinecopperCombinedtherapyofzincsulfateandpenicillamineisaneffective,safetreatmentforchildrenwithHLD