先天性痛覺缺失疾病

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(無淚)progressivePainandtemperaturepeceptionmildtomoderatelossLackoffungiformpapillaeAnhydrosis,hyperpyrexia

ProfoundpainlossSeverlearningdisability/SelfmutilationSelf-mutilation2024/5/126Lackofaxonflare2024/5/1272024/5/1282024/5/12MyelinatedfibersUnmyelinatedfibersHSANⅡSeverlossSomelossHSANⅢTotallossoflarge-diametermyelinatedneuronsSeverlossHSANⅣReductionofsmallmyelinatedfiersVirtuallyabscence9HSAN累及的神經(jīng)纖維2024/5/1210夏科關節(jié)（神經(jīng)源性關節(jié)?。?024/5/12112024/5/12122024/5/1213AutonomicdysfunctionOralincordinationGastroesophagealrefluxRecurrentaspirationpneumoniaChroniclungdiseaseRelativeinsensitivitytohypoxemia++DysautonomiccrisisProtractednauseaandvomitingHypertensionandTachycardiaExcessivesecretionOrthostatichypotensionWithoutacompensatorytachycardia2024/5/12142024/5/12152024/5/12detailsHSANⅡHSANⅢHSANⅣ16出生時就表現(xiàn)癥狀;缺少軸索反射;有髓和無髓神經(jīng)纖維均有受損;發(fā)育遲緩;嚴重和普遍性的感覺喪失“肢端營養(yǎng)障礙型神經(jīng)病變”胃食道反流常見但基本上沒有其他的自主神經(jīng)系統(tǒng)病變非進行性發(fā)病

菌狀乳頭缺失