先天性痛觉缺失疾病.ppt

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1、现在学习的是第1页，共17页2现在学习的是第2页，共17页Hereditary sensory and autonomic neuropathySensory dysfunction Depressed reflexes, altered pain and temperature perceptionAutonomic dysfunction Gastroesophageal reflux, postural hypotension ,excessive sweating3现在学习的是第3页，共17页HSAN typeNomenclatureTransmissionGeneHereditary

2、 sensory radicular neuropathyADSPTLCCongenital sensory neuropathy(CSN)ARHSN2 ?Familial dysautonomia(FD)ARIKBKAPCongenital insensitive to pain with anhidrosis(CIPA)ARNTRK (TRKA)Congenital insensitive to pain with partial anhidrosis(CAD)Not knownNTRKI4现在学习的是第4页，共17页detailsHSAN HSAN HSAN Onset in infan

3、cy;Lack of axon flare;Impairment of myelinated and unmyelinated fibres;Delayed milestones;Profound and universal sensory loss“acrodystrophic neuropathy”Gastroesophageal refluxBut no other autonomic dysfunctionNonprogressive Lack of fungiform papillaeProfound autonomic dysfunctionAlacrima(无泪) progres

4、sivePain and temperature peception mild to moderate lossLack of fungiform papillae Anhydrosis,hyperpyrexia Profound pain lossSever learning disability/Self mutilationSelf-mutilation5现在学习的是第5页，共17页6现在学习的是第6页，共17页7现在学习的是第7页，共17页8现在学习的是第8页，共17页Myelinated fibers Unmyelinated fibersHSAN Sever lossSome lo

5、ssHSAN Total loss of large-diameter myelinated neuronsSever lossHSAN Reduction of small myelinated fiersVirtually abscence9现在学习的是第9页，共17页10现在学习的是第10页，共17页11现在学习的是第11页，共17页12现在学习的是第12页，共17页Oral incordinationGastroesophageal refluxRecurrent aspiration pneumoniaChronic lung diseaseChronic lung diseaseR

6、elative insensitivity to hypoxemia+Dysautonomic crisisProtracted nausea and vomitingHypertension and TachycardiaExcessive secretion Orthostatic hypotensionOrthostatic hypotensionWithout a compensatory Without a compensatory tachycardiatachycardia13现在学习的是第13页，共17页14现在学习的是第14页，共17页15现在学习的是第15页，共17页detailsHSAN 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16现在学习的是第16页，共17页感谢大家观看感谢大家观看2022-8-30现在学习的是第17页，共17页