C型Niemann-Pick病的临床特征及诊断
占克斌,王雪贞,卜碧涛
摘要(Abstract):
关键词(KeyWords): C型Niemann-Pick病;临床特征;诊断
基金项目(Foundation): 国家自然科学基金资助(30270484,30670735)
作者(Author): 占克斌,王雪贞,卜碧涛
参考文献(References):
- [1]PATTERSON M.Niemann-Pick Disease,Type C[EB/OL].[2000-01-26].http://www.genetests.org/servlet/access?db=geneclinics&site=gt&id=8888892&key=u19FCnnhz3tiC&gry=&fcn=y&fw=mbXS&filename=/profiles/npc/index.html.
- [2]KOLODNY EH.Niemann-Pick Disease[J].Curr Opin Hema-tol(S1065-6251),2000,7:48-52.
- [3]NATOWICZ MR,STOLER J M,PRENCE EM,et al.Marked Heterogeneityin Niemann-Pick Disease Type C,Clini-cal and Ultrastructural Findings[J].Clin Pediatr(Phila)(S0009-9228),1995,34:190-197.
- [4]VANIER MT,RODRIGUEZ-LAFRASSE C,ROUSSON R,et al.Type C Niemann-Pick Disease:Spectrum of PhenotypicVariationin Disruption of Intracellular LDL Derived Cholester-ol Processing[J].Biochi mBiophys Acta(S0006-3002),1991,1096:328-337.
- [5]MACONOCHIEIK,CHONG S,MIELI-VERGANI G,et al.Fetal Ascites:An Unusual Presentation of Niemann-Pick Dis-ease Type C[J].Arch Dis Child(S0003-9888),1989,64:1391-1393.
- [6]MANNI NG DJ,PRICE WI,PEARSE RG.Fetal Ascites:AnUnusual Presentation of Niemann-Pick Disease type C[J].Arch Dis Child(S0003-9888),1990,65:335-336.
- [7]RUTLEDGE JC.Progressive Neonatal Liver Failure Due toType C Niemann-Pick Disease[J].Pediatr Pathol(S0277-0938),1989,9:779-784.
- [8]VANIER MT,WENGER DA,COMLY ME,et al.Niemann-Pick Disease Group C:Clinical Variability and Diagnosis Basedon Defective Cholesterol Esterification.A Collaborative Studyon 70 Patients[J].Clin Genet(S0009-9163),1988,33:331-348.
- [9]KANDT RS,EMERSON RG,SI NGER HS,et al.Cataplexyin Variant Forms of Niemann-Pick Disease[J].Ann Neurol(S0364-5134),1982,12:284-288.
- [10]PHILIPPART M,ENGEL J,ZI MMERMAN EG.GelasticCataplexy in Niemann-Pick Disease Group Cand Related Vari-ants without Generalized Sphingomyelinase Deficiency[letter][J].Ann Neurol(S0364-5134),1983,14:492-493.
- [11]SHULMAN LM,DAVID NJ,WEI NER WJ.Psychosis as theInitial Manifestation of Adult-onset Niemann-Pick DiseaseType C[J].Neurology(S0028-3878),1995,45:1739-1743.
- [12]I MRIEJ,VIJAYARAGHAVENS,WHITEHOUSE C,et al.Niemann-Pick Disease Type Cin Adults[J].J Inherit MetabDis(S0141-8955),2002,25:491-500.
- [13]JOSEPHS KA,VAN GERPEN MW,VAN GERPENJA.A-dult Onset Niemann-Pick Disease Type C Presenting with Psy-chosis[J].J Neurol Neurosurg Psychiatry(S0022-3050),2003,74:528-529.
- [14]SULLI VAN D,WALTERFANG M,VELAKOULIS D.Bipo-lar Disorder and Niemann-Pick Disease Type C[J].AmJ Psy-chiatry(S0002-953X),2005,162:1021-1022.
- [15]TEDESCHI G,BONAVITA S,BARTON NW,et al.ProtonMagnetic Resonance Spectroscopic I maging in the Clinical E-valuation of Patients with Niemann-Pick Type C Disease[J].JNeurol Neurosurg Psychiatry(S0022-3050),1998,65:72-79.
- [16]BRADY RO,FILLI NG-KATZ MR,BARTON NW,et al.Niemann-Pick Disease Types C and D[J].Neurol Clin(S0733-8619),1989,7:75-88.
- [17]FI NK JK,FILLI NG-KATZ MR,SOKOL J,et al.ClinicalSpectrum of Niemann-Pick Disease Type C[J].Neurology(S0028-3878),1989,39:1040-1049.
- [18]VANIER MT.Phenotypic and Genetic Heterogeneity in Nie-mann-Pick Disease Type C:Current Knowledge and PracticalI mplications[J].Wien Klin Wochenschr(S0043-5325),1997,109:68-73.
- [19]PENTCHEV PG,COMLY ME,KRUTH HS,et al.A Defectin Cholesterol Esterificationin Niemann-Pick Disease(type C)patients[J].Proc Natl Acad Sci US A(S0027-8424),1985,82:8247-8251.
- [20]VANIER MT,RODRIGUEZ-LAFRASSE C,ROUSSON R,et al.Type C Niemann-Pick Disease:Biochemical Aspects andPhenotypic Heterogeneity[J].Dev Neurosci(S0378-5866),1991,13:307-314.
- [21]SUN X,MARKS DL,PARK WD,et al.Niemann-Pick C Va-riant Detection by Altered Sphingolipid Trafficking and Corre-lation with Mutations within a Specific Domain of NPC1[J].AmJ Hum Genet(S0002-9297),2001,68:1361-1361.
- [22]BOUSTANY RN,KAYE E,ALROYJ.Ultrastructural Find-ings in SkinfromPatients with Niemann-Pick Disease,Type C[J].Pediatr Neurol(S0340-2096),1990,6:177-183.
- [23]CARSTEA ED,POLYMEROPOULOS MH,PARKER CC,et al.Linkage of Niemann-Pick Disease Type C to HumanChromosome 18[J].Proc Natl Acad Sci USA(S0027-8424),1993,90:2002-2004.
- [24]VANIER MT,DUTHEL S,RODRIGUEZ-LAFRASSE C,etal.Genetic Heterogeneityin Niemann-Pick C Disease:AStud-y Using Somatic Cell Hybridization and Linkage Analysis[J].AmJ Hum Genet(S0002-9297),1996,58:118-125.
- [25]PARK WD,O'BRIENJF,LUNDQUISTPA,et al.Identifica-tion of 58 Novel Mutations in Niemann-Pick Disease Type C:Correlation with Biochemical Phenotype and I mportance ofPTC1-like Domains in NPC1[J].Hum Mutat(S1059-7794),2003,22:313-325.
- [26]GREER WL,DOBSON MJ,GIROUARD GS,et al.Muta-tions in NPC1 Highlight a Conserved NPC1-specific Cysteine-rich Domain[J].AmJ Hum Genet(S0002-9297),1999,65:1252-1260.
- [27]YAMAMOTO T,NANBA E,NI NOMIYA H,et al.NPC1Gene Mutations in Japanese Patients with Niemann-Pick Dis-ease Type C[J].Hum Genet(S1059-7794),1999,105:10-16.
- [28]YERUSHALMI B,SOKOL RJ,NARKEWICZ MR,et al.Niemann-pick Disease Type C in Neonatal Cholestasis at aNorth American Center[J].J Pediatr Gastroenterol Nutr(S0277-2116),2002,35:44-50.
- [29]SCHIFFMANN R.Niemann-Pick Disease Type C.FromBench to Bedside[J].JAMA(S0098-7484),1996,276:561-564.