90701524郭新虎12Hereditary sensory and autonomic neuropathySensory dysfunctionDepressed reflexes, altered pain and temperature perceptionAutonomic dysfunctionGastroesophageal reflux, postural hypotension ,excessive sweating3HSAN typeHSAN typeNomenclatureNomenclatureTransmissionTransmissionGeneGeneHereditary 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 knownNTRKI4detailsHSAN HSAN HSAN 5Onset in infancy;Lack of axon flare;Impairment of myelinated and unmyelinated fibres;Delayed milestones;Profound and universal sensory loss“acrodystrophic neuropathyGastroesophageal refluxBut no other autonomic dysfunctionNonprogressive 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-mutilation678Myelinated fibers Myelinated fibers Unmyelinated fibersUnmyelinated fibersHSAN Sever lossSome lossHSAN Total loss of large-diameter myelinated neuronsSever lossHSAN Reduction of small myelinated fiersVirtually abscence910111213Oral incordinationGastroesophageal refluxRecurrent aspiration pneumoniaChronic lung diseaseChronic lung diseaseRelative insensitivity to hypoxemia+Dysautonomic crisisProtracted nausea and vomitingHypertension and TachycardiaExcessive secretion Orthostatic hypotensionOrthostatic hypotensionWithout a compensatory Without a compensatory tachycardiatachycardia1415detailsHSAN HSAN HSAN 16出生时就表现病症;短少轴索反射;有髓和无髓神经纤维均有受损;发育缓慢;严重和普遍性的觉得丧失“肢端营养妨碍型神经病变胃食道反流常见但根本上没有其他的自主神经系统病变非进展性发病 菌状乳头缺失严重的自主神经系统失调无泪 进展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妨碍/自残行为菌状乳头缺失自残行为自残行为17