1、先天性痛觉缺失疾病1Hereditary 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2Hereditary sensory and autonomic neuropathy Sensory dysfunction Depressed reflexes,altered pain and temperature perception Autonomic dysfunction Gastroesophageal reflux,po
2、stural hypotension,excessive sweatingWhat is HSAN?先天性痛觉缺失疾病3HSAN typeHSAN typeNomenclatureNomenclatureTransmissionTransmissionGeneGeneHereditary sensory radicular neuropathyADSPTLCCongenital sensory neuropathy(CSN)ARHSN2?Familial dysautonomia(FD)ARIKBKAPCongenital insensitive to pain with anhidrosis
3、(CIPA)ARNTRK(TRKA)Congenital insensitive to pain with partial anhidrosis(CAD)Not knownNTRKIClassification 先天性痛觉缺失疾病4detailsHSAN HSAN HSAN Onset in infancy;Lack of axon flare;Impairment of myelinated and unmyelinated fibres;Delayed milestones;Profound and universal sensory loss“acrodystrophic neuropa
4、thy”Gastroesophageal refluxBut no other autonomic dysfunctionNonprogressive Lack of fungiform papillaeProfound autonomic dysfunctionAlacrima(无泪)progressivePain and temperature peception mild to moderate lossLack of fungiform papillae Anhydrosis,hyperpyrexia Profound pain lossSever learning disabilit
5、y/Self mutilationSelf-mutilation先天性痛觉缺失疾病5Lack 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8Myelinated fibers Myelinated fibers Unmyelinated fibersUnmyelinated fibersHSAN Sever lossSome lossHSAN Total loss of large-diameter myelinated neuronsSever lossHSAN Reduction of small myelinated fiersVirtually
6、abscenceHSAN累及的神经纤维先天性痛觉缺失疾病9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12Oral incordinationGastroesophageal refluxRecurrent aspiration pneumoniaChronic lung diseaseChronic lung diseaseRelative insensitivity to hypoxemia+Dysautonomic crisisProtracted nausea and vomitingHypertension and TachycardiaE
7、xcessive secretion Orthostatic hypotensionOrthostatic hypotensionWithout a compensatory Without a compensatory tachycardiatachycardia先天性痛觉缺失疾病13先天性痛觉缺失疾病14先天性痛觉缺失疾病15detailsHSAN 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先天性痛觉缺失疾病16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
