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1、关于先天性痛觉缺失疾病关于先天性痛觉缺失疾病第一页，讲稿共十七页哦2第二页，讲稿共十七页哦Hereditary sensory and autonomic neuropathySensory dysfunctionDepressed reflexes,altered pain and temperature perceptionAutonomic dysfunctionGastroesophageal reflux,postural hypotension,excessive sweating3第三页，讲稿共十七页哦HSAN typeNomenclatureTransmissionGeneHe
2、reditary 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 knownNTRKI4第四页，讲稿共十七页哦detailsHSAN HSAN HSAN Onset in in
3、fancy;Lack of axon flare;Impairment of myelinated and unmyelinated fibres;Delayed milestones;Profound and universal sensory loss“acrodystrophic neuropathy”Gastroesophageal refluxBut no other autonomic dysfunctionNonprogressive Lack of fungiform papillaeProfound autonomic dysfunctionAlacrima(无泪)progr
4、essivePain and temperature peception mild to moderate lossLack of fungiform papillae Anhydrosis,hyperpyrexia Profound pain lossSever learning disability/Self mutilationSelf-mutilation5第五页，讲稿共十七页哦6第六页，讲稿共十七页哦7第七页，讲稿共十七页哦8第八页，讲稿共十七页哦Myelinated fibers Unmyelinated fibersHSAN Sever lossSome lossHSAN Tot
5、al loss of large-diameter myelinated neuronsSever lossHSAN Reduction of small myelinated fiersVirtually abscence9第九页，讲稿共十七页哦10第十页，讲稿共十七页哦11第十一页，讲稿共十七页哦12第十二页，讲稿共十七页哦Oral incordinationGastroesophageal refluxRecurrent aspiration pneumoniaChronic lung diseaseChronic lung diseaseRelative insensitivity t
6、o hypoxemia+Dysautonomic crisisProtracted nausea and vomitingHypertension and TachycardiaExcessive secretion Orthostatic hypotensionOrthostatic hypotensionWithout a compensatory Without a compensatory tachycardiatachycardia13第十三页，讲稿共十七页哦14第十四页，讲稿共十七页哦15第十五页，讲稿共十七页哦detailsHSAN HSAN HSAN 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16第十六页，讲稿共十七页哦感谢大家观看2022/9/26第十七页，讲稿共十七页哦