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,单击此处编辑母版标题样式,单击此处编辑母版文本样式,第二级,第三级,第四级,第五级,2019-12-05,医药交流课件,*,单击此处编辑母版标题样式,单击此处编辑母版文本样式,第二级,第三级,第四级,第五级,2019-12-05,医药交流课件,*,单击此处编辑母版标题样式,单击此处编辑母版文本样式,第二级,第三级,第四级,第五级,*,*,单击此处编辑母版标题样式,单击此处编辑母版文本样式,第二级,第三级,第四级,第五级,*,*,单击此处编辑母版标题样式,单击此处编辑母版文本样式,第二级,第三级,第四级,第五级,*,*,单击此处编辑母版标题样式,单击此处编辑母版文本样式,第二级,第三级,第四级,第五级,*,*,单击此处编辑母版标题样式,单击此处编辑母版文本样式,第二级,第三级,第四级,第五级,*,*,单击此处编辑母版标题样式,单击此处编辑母版文本样式,第二级,第三级,第四级,第五级,*,*,单击此处编辑母版标题样式,单击此处编辑母版文本样式,第二级,第三级,第四级,第五级,*,*,单击此处编辑母版标题样式,单击此处编辑母版文本样式,第二级,第三级,第四级,第五级,*,*,单击此处编辑母版标题样式,单击此处编辑母版文本样式,第二级,第三级,第四级,第五级,*,*,单击此处编辑母版标题样式,单击此处编辑母版文本样式,第二级,第三级,第四级,第五级,*,*,1,医药交流课件,2019-12-05,1医药交流课件2019-12-05,2,Hereditary sensory and autonomic neuropathies : type , and ,-a review,Orphanet Journal of Rare diseases 2007,2:39,2024/8/27,2Hereditary sensory and autono,Hereditary sensory and autonomic neuropathy,Sensory dysfunction,Depressed reflexes, altered pain and temperature perception,Autonomic dysfunction,Gastroesophageal reflux, postural hypotension ,excessive sweating,3,What is HSAN?,2024/8/27,Hereditary sensory and autonom,HSAN type,Nomenclature,Transmission,Gene,Hereditary sensory radicular neuropathy,AD,SPTLC,Congenital sensory neuropathy(CSN),AR,HSN2 ?,Familial dysautonomia(FD),AR,IKBKAP,Congenital insensitive to pain with anhidrosis(CIPA),AR,NTRK,(TRKA),Congenital insensitive to pain with partial anhidrosis(CAD),Not known,NTRKI,4,Classification,2024/8/27,HSAN typeNomenclatureTransmiss,details,HSAN ,HSAN ,HSAN ,5,Onset in infancy;,Lack of axon flare,;,Impairment of myelinated and unmyelinated fibres;,Delayed milestones;,Profound and universal sensory loss,“acrodystrophic neuropathy”,Gastroesophageal reflux,But no other autonomic dysfunction,Nonprogressive,Lack of fungiform papillae,Profound autonomic dysfunction,Alacrima(,无泪,),progressive,Pain and temperature peception mild to moderate loss,Lack of fungiform papillae,Anhydrosis,hyperpyrexia,Profound pain loss,Sever learning disability/,Self mutilation,Self-mutilation,2024/8/27,detailsHSAN HSAN HSAN 5Onse,6,Lack of axon flare,2024/8/27,6Lack of axon flare2023/9/2,7,2024/8/27,72023/9/2,8,2024/8/27,82023/9/2,Myelinated fibers,Unmyelinated fibers,HSAN ,Sever loss,Some loss,HSAN ,Total loss of large-diameter myelinated neurons,Sever loss,HSAN ,Reduction of small myelinated fiers,Virtually abscence,9,HSAN,累及的神经纤维,2024/8/27,Myelinated fibers Unmyelinated,10,夏科关节（神经源性关节病）,2024/8/27,10夏科关节（神经源性关节病）2023/9/2,11,2024/8/27,112023/9/2,12,2024/8/27,122023/9/2,13,Autonomic dysfunction,Oral incordination,Gastroesophageal reflux,Recurrent aspiration pneumonia,Chronic lung disease,Relative insensitivity to hypoxemia,+,+,Dysautonomic crisis,Protracted nausea and vomiting,Hypertension and Tachycardia,Excessive secretion,Orthostatic hypotension,Without a compensatory tachycardia,2024/8/27,13Autonomic dysfunctionOral in,14,2024/8/27,142023/9/2,15,2024/8/27,152023/9/2,details,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,2024/8/27,detailsHSAN HSAN HSAN 16出生时,17,THANK YOU,！,2024/8/27,17THANK YOU！2023/9/2,
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