中华实验和临床病毒学杂志
中華實驗和臨床病毒學雜誌
중화실험화림상병독학잡지
CHINESE JOURNAL OF EXPERIMENTAL AND CLINICAL VIROLOGY
2009年
2期
124-126
,共3页
夏胜利%许予明%徐强%谢志强%申晓靖%周伟%杜冉%张锦%韩俊%许汴利%董小平
夏勝利%許予明%徐彊%謝誌彊%申曉靖%週偉%杜冉%張錦%韓俊%許汴利%董小平
하성리%허여명%서강%사지강%신효정%주위%두염%장금%한준%허변리%동소평
朊病毒病%染色体,人%朊病毒
朊病毒病%染色體,人%朊病毒
원병독병%염색체,인%원병독
Prian diseases%Chromosomes,human%Prions
目的 调查和研究报道1例散发型致死性家族性失眠症(sporadic Family Fatal isomnia,sFFI)的临床症状,分析人类朊病毒病(Human prion protein,PrP)基因特征.方法 随访调查1例疑为FFI患者的临床特征和家族发病史;采集患者脑脊液及抗凝全血标本后Western-Blot检测14-3-3脑蛋白及常染色体PrP基因突变及测序分析;采集患者家族成员抗凝全血进行PrP基因突变检测.结果 根据患者的临床表现及PrP基因检测结果,PrP呈D178N/129M/M突变基因型;且脑蛋白14-3-3阳性,这在以往少有报道,提示今后在临床鉴别、诊断人类克.雅病(CJD)与FFI患者时,应注重甄别临床症状及实验室结果;14名直系及旁系家族成员PrP基因均未出现突变,且家族内无其他人患类似疾病.结论 该患者为致死性家族性失眠症单发性病例;患者的临床表现及PrP基因突变检测对甄别单发、家族聚集性的致死性失眠症及人类CJD作用重大.该FFI病例为我国首次报道,具有较大的临床意义和科研意义.
目的 調查和研究報道1例散髮型緻死性傢族性失眠癥(sporadic Family Fatal isomnia,sFFI)的臨床癥狀,分析人類朊病毒病(Human prion protein,PrP)基因特徵.方法 隨訪調查1例疑為FFI患者的臨床特徵和傢族髮病史;採集患者腦脊液及抗凝全血標本後Western-Blot檢測14-3-3腦蛋白及常染色體PrP基因突變及測序分析;採集患者傢族成員抗凝全血進行PrP基因突變檢測.結果 根據患者的臨床錶現及PrP基因檢測結果,PrP呈D178N/129M/M突變基因型;且腦蛋白14-3-3暘性,這在以往少有報道,提示今後在臨床鑒彆、診斷人類剋.雅病(CJD)與FFI患者時,應註重甄彆臨床癥狀及實驗室結果;14名直繫及徬繫傢族成員PrP基因均未齣現突變,且傢族內無其他人患類似疾病.結論 該患者為緻死性傢族性失眠癥單髮性病例;患者的臨床錶現及PrP基因突變檢測對甄彆單髮、傢族聚集性的緻死性失眠癥及人類CJD作用重大.該FFI病例為我國首次報道,具有較大的臨床意義和科研意義.
목적 조사화연구보도1례산발형치사성가족성실면증(sporadic Family Fatal isomnia,sFFI)적림상증상,분석인류원병독병(Human prion protein,PrP)기인특정.방법 수방조사1례의위FFI환자적림상특정화가족발병사;채집환자뇌척액급항응전혈표본후Western-Blot검측14-3-3뇌단백급상염색체PrP기인돌변급측서분석;채집환자가족성원항응전혈진행PrP기인돌변검측.결과 근거환자적림상표현급PrP기인검측결과,PrP정D178N/129M/M돌변기인형;차뇌단백14-3-3양성,저재이왕소유보도,제시금후재림상감별、진단인류극.아병(CJD)여FFI환자시,응주중견별림상증상급실험실결과;14명직계급방계가족성원PrP기인균미출현돌변,차가족내무기타인환유사질병.결론 해환자위치사성가족성실면증단발성병례;환자적림상표현급PrP기인돌변검측대견별단발、가족취집성적치사성실면증급인류CJD작용중대.해FFI병례위아국수차보도,구유교대적림상의의화과연의의.
Objective To report and study a case of sporadic family fatal insomnia(SFFI)on its. Methods Investigate clinical characteristics and family disease history of a suspect FFI patient His clinical characteristic was analyzed, he and his 14 family members genomic DNA was extracted by standard techniques from their and blood detected with polymersse chain reaction(PCR) method and DNA sequencing to find out his prion protein (PrP)gene mutation. The patient's CSF was detected with Western-Blot method for 14-3-3 brain protein. Results The patient was diagnosed as an sporadic FFI by his developed sleep disturbance and changes in sleep-awake rhythm, motor abnormalities, mental disorder, dementia, autonomic dysfunction ; his family history ; his 14-3-3 brain protein-positive (CSF) and analysis results of his PrP gene (codon point mutation D178N and methionine homozygosity at position 129M/M). Suggesting that in the future to identify CJD and FFI patients, screening should focus on clinical symptoms and laboratory results. The PrP gene of 14 family members did not appear Mutation, and there is no person suffering from the same disease. Conclusions The case was diagnosed as a sporadic familial fatal insomnia. Analysis of suspicious patients' genomic DNA for PrP gene mutation might be very important for FFI diagnosis because there exist many difficulties in clinical laboratory evaluation. This patient might be the first SFFI patient reported in China and the case finding might have momentousness in clinical and basical study.
