CAJ | 학술논문

目的明确位于江淮之间丘陵地带的安徽省含山县肝豆状核变性(HLD)的发病率和患病率.方法我们于2008年11月至2009年10月间,根据年龄分层、整群一级、随机抽样的原则,由专业人员采用裂隙灯检查双眼角膜K-F环作为筛查方法,在含山县境内的学校、工厂、社区、机关单位和村庄等地点的7～75岁年龄组人群中共检查了112 810人,同时了解每位被检查者有无脑、肝、肾、皮肤等器官受损害的临床表现.对发现为K-F环阳性者,以及有可疑的HLD临床表现者,进一步行铜生化、腹部超声等检查,必要时进行青霉胺负荷试验(PCT)等,从而确诊或排除其是否为HLD患者.结果上述人群中确诊HLD患者7例,包括经典Wilson型、假性硬化型、精神障碍型和肝型各1例,症状前期者3例;其中3例已经发病的HLD患者的病程在1年以内.含山县HLD的发病率约为2.66/10万,患病率约为6.21/10万.结论 HLD并非为少见病,又因其为可治性遗传病,临床医师在日常临床诊疗实践中应该提高对该病的警惕性,力争做到早期发现、早期诊断、早期治疗,从而减少漏诊、误诊和误治.
목적 명학위우강회지간구릉지대적안휘성함산현간두상핵변성(HLD)적발병솔화환병솔.방법 아문우2008년11월지2009년10월간,근거년령분층、정군일급、수궤추양적원칙,유전업인원채용렬극등검사쌍안각막K-F배작위사사방법,재함산현경내적학교、공엄、사구、궤관단위화촌장등지점적7～75세년령조인군중공검사료112 810인,동시료해매위피검사자유무뇌、간、신、피부등기관수손해적림상표현.대발현위K-F배양성자,이급유가의적HLD림상표현자,진일보행동생화、복부초성등검사,필요시진행청매알부하시험(PCT)등,종이학진혹배제기시부위HLD환자.결과 상술인군중학진HLD환자7례,포괄경전Wilson형、가성경화형、정신장애형화간형각1례,증상전기자3례;기중3례이경발병적HLD환자적병정재1년이내.함산현HLD적발병솔약위2.66/10만,환병솔약위6.21/10만.결론 HLD병비위소견병,우인기위가치성유전병,림상의사재일상림상진료실천중응해제고대해병적경척성,력쟁주도조기발현、조기진단、조기치료,종이감소루진、오진화오치.
Objective To identify the incidence and morbidity rates of haptolenticular degeneration (HLD) at Hanshan County, Anhui Province. Methods According to the principles of age stratification,cluster and random sampling, a total of 112 810 subjects were screened by cornea slit-lamp examination during the period of November 2008 to October 2009. The subjects were from recruited from schools,factories, communities, institutions and villages at Hanshan County. And they belonged to the age group of 7 -75 years. At the same time, each subject was evaluated by the clinical examination with regards to the presence of such clinical manifestations as brain, liver, kidney, skin and other organ damage. And the examinations of copper biochemistry and abdominal ultrasound were performed for those subjects with K-F rings or their clinical manifestations suspicious of HLD. In order to confirm or exclude HLD, the penicillamine challenge test (PCT) was performed if necessary. Results Seven HLD patients had a definite diagnosis of HLD. There were classical Wilson type ( n = 1 ), peudosclerosis type ( n = 1 ), mental disorder type (n = 1 ) , liver type (n = 1 ) and presymptomatics (n = 3). The incidence rate was 2.66/100 000 and the prevalence rate 6.21/100 000 at Hanshan County, Anhui Province. Conclusion HLD is a common disease. In order to avoid a misdiagnosis and prevent an incorrect treatment, physicians should pay more attention to this curable disease and try their best to achieve early detection, early diagnosis and early treatment.