先天性痛觉缺失疾病

122Hereditarysensoryandautonomicneuropathies:typeⅡ,ⅢandⅣ--areview

OrphanetJournalofRarediseases2007,2:392024/5/12HereditarysensoryandautonomicneuropathySensorydysfunctionDepressedreflexes,alteredpainandtemperatureperceptionAutonomicdysfunctionGastroesophagealreflux,posturalhypotension,excessivesweating3WhatisHSAN?2024/5/12HSANtypeNomenclatureTransmissionGeneⅠHereditarysensoryradicularneuropathyADSPTLCⅠⅡCongenitalsensoryneuropathy(CSN)ARHSN2?ⅢFamilialdysautonomia(FD)ARIKBKAPⅣCongenitalinsensitivetopainwithanhidrosis(CIPA)ARNTRKⅠ

(TRKA)ⅤCongenitalinsensitivetopainwithpartialanhidrosis(CAD)NotknownNTRKI4Classification2024/5/12detailsHSANⅡHSANⅢHSANⅣ5Onsetininfancy;Lackofaxonflare;Impairmentofmyelinatedandunmyelinatedfibres;Delayedmilestones;Profoundanduniversalsensoryloss“acrodystrophicneuropathy”GastroesophagealrefluxButnootherautonomicdysfunctionNonprogressiveLackoffungiformpapillaeProfoundautonomicdysfunctionAlacrima(无泪)progressivePainandtemperaturepeceptionmildtomoderatelossLackoffungiformpapillaeAnhydrosis,hyperpyrexia

ProfoundpainlossSeverlearningdisability/SelfmutilationSelf-mutilation2024/5/126Lackofaxonflare2024/5/1272024/5/1282024/5/12MyelinatedfibersUnmyelinatedfibersHSANⅡSeverlossSomelossHSANⅢTotallossoflarge-diametermyelinatedneuronsSeverlossHSANⅣReductionofsmallmyelinatedfiersVirtuallyabscence9HSAN累及的神经纤维2024/5/1210夏科关节（神经源性关节病）2024/5/12112024/5/12122024/5/1213AutonomicdysfunctionOralincordinationGastroesophagealrefluxRecurrentaspirationpneumoniaChroniclungdiseaseRelativeinsensitivitytohypoxemia++DysautonomiccrisisProtractednauseaandvomitingHypertensionandTachycardiaExcessivesecretionOrthostatichypotensionWithoutacompensatorytachycardia2024/5/12142024/5/12152024/5/12detailsHSANⅡHSANⅢHSANⅣ16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

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