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1、122Hereditary sensory and Hereditary sensory and autonomic neuropathies:type autonomic neuropathies:type ,and and -a review-a review-a review-a review Orphanet Journal of Rare diseases Orphanet Journal of Rare diseases Orphanet Journal of Rare diseases Orphanet Journal of Rare diseases 2007,2:392007
2、,2:392007,2:392007,2:392024/7/10Hereditary sensory and autonomic neuropathySensory dysfunctionDepressed reflexes,altered pain and temperature perceptionAutonomic dysfunctionGastroesophageal reflux,postural hypotension,excessive sweating3What is HSAN?What is HSAN?2024/7/10HSAN typeHSAN typeNomenclatu
3、reNomenclatureTransmissionTransmissionGeneGeneHereditary sensory radicular neuropathyADSPTLCCongenital sensory neuropathy(CSN)ARHSN2?Familial dysautonomia(FD)ARIKBKAPCongenital insensitive to pain with anhidrosis(CIPA)ARNTRK(TRKA)Congenital insensitive to pain with partial anhidrosis(CAD)Not knownNT
4、RKI4Classification Classification 2024/7/10detailsHSAN HSAN HSAN HSAN HSAN HSAN 5Onset in infancy;Lack of axon flare;Impairment of myelinated and unmyelinated fibres;Delayed milestones;Profound and universal sensory loss“acrodystrophic neuropathy”Gastroesophageal refluxBut no other autonomic dysfunc
5、tionNonprogressive Lack of fungiform papillaeProfound autonomic dysfunctionAlacrima(无泪)progressivePain and temperature peception mild to moderate lossLack of fungiform papillae Anhydrosis,hyperpyrexia Profound pain lossSever learning disability/Self mutilationSelf-mutilation2024/7/106Lack of axon fl
6、areLack of axon flare2024/7/1072024/7/1082024/7/10Myelinated fibers Myelinated fibers Unmyelinated fibersUnmyelinated fibersHSAN Sever lossSome lossHSAN Total loss of large-diameter myelinated neuronsSever lossHSAN Reduction of small myelinated fiersVirtually abscence9HSANHSAN累及的神经纤维累及的神经纤维2024/7/10
7、10夏科关节（神经源性关节病）夏科关节（神经源性关节病）夏科关节（神经源性关节病）夏科关节（神经源性关节病）2024/7/10112024/7/10122024/7/1013Autonomic Autonomic dysfunctiondysfunctionOral incordinationGastroesophageal refluxRecurrent aspiration pneumoniaChronic lung diseaseChronic lung diseaseRelative insensitivity to hypoxemia+Dysautonomic crisisProtr
8、acted nausea and vomitingHypertension and TachycardiaExcessive secretion Orthostatic hypotensionOrthostatic hypotensionWithout a compensatory Without a compensatory tachycardiatachycardia2024/7/10142024/7/10152024/7/10detailsHSAN HSAN HSAN HSAN HSAN HSAN 16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自残行为2024/7/10172024/7/10