先天性痛觉缺失疾病课件

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Hereditarysensoryandautonomicneuropathies:typeⅡ,ⅢandⅣ--areviewOrphanetJournalofRarediseases2007,2:391

1HereditarysensoryandautonomicneuropathySensorydysfunctionDepressedreflexes,alteredpainandtemperatureperceptionAutonomicdysfunctionGastroesophagealreflux,posturalhypotension,excessivesweatingWhatisHSAN?2

2HSANtypeNomenclatureTransmissionGeneⅠHereditarysensoryradicularneuropathyADSPTLCⅠⅡCongenitalsensoryneuropathy(CSN)ARHSN2?ⅢFamilialdysautonomia(FD)ARIKBKAPⅣCongenitalinsensitivetopainwithanhidrosis(CIPA)ARNTRKⅠ(TRKA)ⅤCongenitalinsensitivetopainwithpartialanhidrosis(CAD)NotknownNTRKIClassification3

3detailsHSANⅡHSANⅢHSANⅣOnsetininfancy;Lackofaxonflare;Impairmentofmyelinatedandunmyelinatedfibres;Delayedmilestones;Profoundanduniversalsensoryloss“acrodystrophicneuropathy”GastroesophagealrefluxButnootherautonomicdysfunctionNonprogressiveLackoffungiformpapillaeProfoundautonomicdysfunctionAlacrima(无泪)progressivePainandtemperaturepeceptionmildtomoderatelossLackoffungiformpapillaeAnhydrosis,hyperpyrexiaProfoundpainlossSeverlearningdisability/SelfmutilationSelf-mutilation4

4Lackofaxonflare5

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7MyelinatedfibersUnmyelinatedfibersHSANⅡSeverlossSomelossHSANⅢTotallossoflarge-diametermyelinatedneuronsSeverlossHSANⅣReductionofsmallmyelinatedfiersVirtuallyabscenceHSAN累及的神经纤维8

8夏科关节（神经源性关节病）9

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11AutonomicdysfunctionOralincordinationGastroesophagealrefluxRecurrentaspirationpneumoniaChroniclungdiseaseRelativeinsensitivitytohypoxemia++DysautonomiccrisisProtractednauseaandvomitingHypertensionandTachycardiaExcessivesecretionOrthostatichypotensionWithoutacompensatorytachycardia12

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14detailsHSANⅡHSANⅢHSANⅣ出生时就表现症状;缺少轴索反射;有髓和无髓神经纤维均有受损;发育迟缓;严重和普遍性的感觉丧失“肢端营养障碍型神经病变”胃食道反流常见但基本上没有其他的自主神经系统病变非进行性发病菌状乳头缺失严重的自主神经系统失调无泪进行性发病痛温觉轻度到中度缺失无汗,高热严重的痛觉丧失严重学习障碍/自残行为菌状乳头缺失自残行为15

15THANKYOU！16