先天性痛觉缺失疾病课件

1、先天性痛觉缺失疾病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 autonomHereditary sensory and autonomic neuropathySensory dysfunctionDepressed reflexes, altered pain and temperature perceptionAutonom

2、ic dysfunctionGastroesophageal reflux, postural hypotension ,excessive sweatingWhat is HSAN?先天性痛觉缺失疾病3Hereditary sensory and autonomHSAN typeNomenclatureTransmissionGeneHereditary sensory radicular neuropathyADSPTLCCongenital sensory neuropathy(CSN)ARHSN2 ?Familial dysautonomia(FD)ARIKBKAPCongenital

3、 insensitive to pain with anhidrosis(CIPA)ARNTRK (TRKA)Congenital insensitive to pain with partial anhidrosis(CAD)Not knownNTRKIClassification 先天性痛觉缺失疾病4HSAN typeNomenclatureTransmissdetailsHSAN HSAN HSAN Onset in infancy;Lack of axon flare;Impairment of myelinated and unmyelinated fibres;Delayed mi

4、lestones;Profound and universal sensory loss“acrodystrophic neuropathy”Gastroesophageal refluxBut no other autonomic dysfunctionNonprogressive Lack of fungiform papillaeProfound autonomic dysfunctionAlacrima(无泪) progressivePain and temperature peception mild to moderate lossLack of fungiform papilla

5、e Anhydrosis,hyperpyrexia Profound pain lossSever learning disability/Self mutilationSelf-mutilation先天性痛觉缺失疾病5detailsHSAN HSAN HSAN OnsetLack of axon flare先天性痛觉缺失疾病6Lack 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8Myelinated fibers Unmyelinated fibersHSAN Sever lossSome lossHSAN T

6、otal loss of large-diameter myelinated neuronsSever lossHSAN Reduction of small myelinated fiersVirtually abscenceHSAN累及的神经纤维先天性痛觉缺失疾病9Myelinated 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12Autonomic dysfunctionOral incordinationGast

7、roesophageal refluxRecurrent aspiration pneumoniaChronic lung diseaseRelative insensitivity to hypoxemia+Dysautonomic crisisProtracted nausea and vomitingHypertension and TachycardiaExcessive secretion Orthostatic hypotensionWithout a compensatory tachycardia先天性痛觉缺失疾病13Autonomic 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先天性痛觉缺失疾病16detailsHSAN HSAN H