最新：关于先天性痛觉缺失疾病一点综述-文档资料.ppt

1,Hereditary sensory and autonomic neuropathies : type , and -a review Orphanet Journal of Rare diseases 2007,2:39,Hereditary sensory and autonomic neuropathy Sensory dysfunction Depressed reflexes, altered pain and temperature perception Autonomic dysfunction Gastroesophageal reflux, postural hypotension ,excessive sweating,2,What is HSAN?,3,Classification,details,4,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,5,Lack of axon flare,6,7,8,HSAN累及的神经纤维,9,夏科关节（神经源性关节病）,10,11,12,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,13,14,details,15,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,16,THANK YOU！,