Ultrastructural pathology of primary ciliary dyskinesia report about 125 cases in Germany 英文参考文献.docVIP

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Ultrastructural pathology of primary ciliary dyskinesia report about 125 cases in Germany 英文参考文献.doc

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Ultrastructural pathology of primary ciliary dyskinesia report about 125 cases in Germany 英文参考文献

TheegartenandEbsenDiagnosticPathology2011,6:115 /content/6/1/115 RESEARCH OpenAccess Ultrastructuralpathologyofprimaryciliary dyskinesia:reportabout125casesinGermany DirkTheegarten1* andMichaelEbsen2 Abstract Background:Primaryciliarydyskinesia(PCD)isararegeneticallyinduceddisorderofciliainducingmainly respiratorydiseases.Transmissionelectronmicroscopy(TEM)analysisofciliaryultrastructureisclassicallyusedfor diagnosis.WereportourexperienceofTEMinvestigationsinalargeseriesofpatients. Methods:TEManalysisperformedof742biopsiesfrompatientswithsuspectedPCDwasreviewedretrospectively. Ultrastructuraldefectswereanalysizedfurtherin125caseswithchangestypicalforPCD. Results:In18.1%ofpatientsdiagnosisofPCDwasmadebecauseofmorphologicalalterations,in68.2%secondary changeswereseen.In13.7%materialwasnotfeasibleforanalysis.Mostlydefectsofdyneinarmsweredetectedin PCD(96.8%).Inparticulardefectsoftheinnerarms(51.2%)andcombineddyneindefects(37.6%)werefound.Total lossofdyneinarmswasdominant.Onlyin3.2%deficienciesofcentralstructureswerefoundalone.Associated situsinversusordextracardiawasreportedclinicallyin21.4%. Conclusions:TEManalysisispossibleinmostpatientsandausefultoolfordiagnosisofPCD.Functionaland geneticanalysisshouldbedoneadditionally.Registersshouldbeinstalledtocollectallavailableinformationsand pushfurtherresearch. VirtualSlides:Thevirtualslide(s)forthisarticlecanbefoundhere:http://www.diagnosticpathology.diagnomx.eu/ vs/1629267757580889. Background whichdiagnosisismade.DiagnosisofPCDrequiresthe Ciliaareancientevolutionarilyconservedorganellesthat presence of the characteristic clinical phenotype and typically project from the apical surface of cells. Their eitherspecificultrastructuralciliarydefectsidentifiedby biological roles include whole-cell locomotion, move- TEMorabnormal ciliary function [3-6]. Inafewcases ment of fluid, chemo-, mechano- and photosensation onlyabnormalfunctionisfoundalonesidewithnormal and sexual reproduction. Defects incilia areassociated ultr