关于先天性痛缺失疾病的的一点综述.ppt

90701524 郭新虎 * * Hereditary sensory and autonomic neuropathy Sensory dysfunction Depressed reflexes, altered pain and temperature perception Autonomic dysfunction Gastroesophageal reflux, postural hypotension ,excessive sweating * HSAN type Nomenclature Transmission Gene Ⅰ Hereditary sensory radicular neuropathy AD SPTLCⅠ Ⅱ Congenital sensory neuropathy(CSN) AR HSN2 ? Ⅲ Familial dysautonomia(FD) AR IKBKAP Ⅳ Congenital insensitive to pain with anhidrosis(CIPA) AR NTRKⅠ (TRKA) Ⅴ Congenital insensitive to pain with partial anhidrosis(CAD) Not known NTRKI * details * 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 * * * Myelinated fibers Unmyelinated fibers HSAN Ⅱ Sever loss Some loss HSAN Ⅲ Total loss of large-diameter myelinated neurons Sever loss HSAN Ⅳ Reduction of small myelinated fiers Virtually abscence * * * * * 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 * * details * 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 * 目前有几百例病人 * 需要说明一下的就是现在的分类还不是很成熟，随着研究的进一步进展会有更好的分类出现。分类主要依据感觉和自主神经系统的临床表现，除了HSAN3 能用基因检测外，其他的都还不能用基因检测来确诊。介绍一下遗传方式 * 三联反应：有三种不同的细胞类型分别参与反应-微循环中的平滑肌、毛细血管或小静脉内皮细胞以及感受性神经末梢。在注射点，由于小血管的扩张首先出现红斑，很快在注射点出现肿起的风团，随后在风团周围出现红晕