先天性痛觉缺失疾病课件

单击此处编辑母版标题样式,单击此处编辑母版文本样式,二级,三级,四级,五级,*,先天性痛觉缺失疾病,*,先天性痛觉缺失疾病,1,先天性痛觉缺失疾病1,Hereditary sensory and autonomic neuropathies : type , and ,-a review,Orphanet Journal of Rare diseases 2007,2:39,先天性痛觉缺失疾病,2,Hereditary sensory and autonom,Hereditary sensory and autonomic neuropathy,Sensory dysfunction,Depressed reflexes, altered pain and temperature perception,Autonomic dysfunction,Gastroesophageal reflux, postural hypotension ,excessive sweating,What is HSAN?,先天性痛觉缺失疾病,3,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,Classification,先天性痛觉缺失疾病,4,HSAN typeNomenclatureTransmiss,details,HSAN ,HSAN ,HSAN ,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,先天性痛觉缺失疾病,5,detailsHSAN HSAN HSAN Onset,Lack of axon flare,先天性痛觉缺失疾病,6,Lack of axon flare先天性痛觉缺失疾病6,先天性痛觉缺失疾病,7,先天性痛觉缺失疾病7,先天性痛觉缺失疾病,8,先天性痛觉缺失疾病8,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,HSAN,累及的神经纤维,先天性痛觉缺失疾病,9,Myelinated fibers Unmyelinated,夏科关节（神经源性关节病）,先天性痛觉缺失疾病,10,夏科关节（神经源性关节病）先天性痛觉缺失疾病10,先天性痛觉缺失疾病,11,先天性痛觉缺失疾病11,先天性痛觉缺失疾病,12,先天性痛觉缺失疾病12,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,先天性痛觉缺失疾病,13,Autonomic dysfunctionOral inco,先天性痛觉缺失疾病,14,先天性痛觉缺失疾病14,先天性痛觉缺失疾病,15,先天性痛觉缺失疾病15,details,HSAN ,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,先天性痛觉缺失疾病,16,detailsHSAN HSAN HSAN 出生时就表,THANK YOU,！,先天性痛觉缺失疾病,17,THANK YOU！先天性痛觉缺失疾病17,此课件下载可自行编辑修改，供参考！,感谢您的支持，我们努力做得更好！,先天性痛觉缺失疾病,18,此课件下载可自行编辑修改，供参考！先天性痛觉缺失疾病18,