1、先天性痛觉缺失疾病HSAN typeHSAN typeNomenclatureNomenclatureTransmissionTransmissionGeneGeneHereditary sensory radicular neuropathyADSPTLCCongenital sensory neuropathy(CSN)ARHSN2?Familial dysautonomia(FD)ARIKBKAPCongenital insensitive to pain with anhidrosis(CIPA)ARNTRK(TRKA)Congenital insensitive to pain wi
2、th partial anhidrosis(CAD)Not knownNTRKI3先天性痛觉缺失疾病detailsHSAN HSAN HSAN 4Onset in infancy;Lack of axon flare;Impairment of myelinated and unmyelinated fibres;Delayed milestones;Profound and universal sensory loss“acrodystrophic neuropathy”Gastroesophageal refluxBut no other autonomic dysfunctionNonp
3、rogressive 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 disability/Self mutilationSelf-mutilation先天性痛觉缺失疾病5先天性痛觉缺失疾病6先天性痛觉缺失疾病7先天性
4、痛觉缺失疾病Myelinated fibers Myelinated fibers Unmyelinated fibersUnmyelinated fibersHSAN Sever lossSome lossHSAN Total loss of large-diameter myelinated neuronsSever lossHSAN Reduction of small myelinated fiersVirtually abscence8先天性痛觉缺失疾病9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 incordinationGastroesophage
5、al refluxRecurrent aspiration pneumoniaChronic lung diseaseChronic lung diseaseRelative insensitivity to hypoxemia+Dysautonomic crisisProtracted nausea and vomitingHypertension and TachycardiaExcessive 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detailsHSAN HSAN HSAN 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自残行为先天性痛觉缺失疾病16先天性痛觉缺失疾病
