先天性痛覺缺失疾病課件

1、先天性痛覺缺失疾病1先天性痛覺缺失疾病1Hereditary sensory and autonomic neuropathies : type , and -a review Orphanet Journal of Rare diseases 2007,2:39先天性痛覺缺失疾病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?先天性痛覺缺失疾病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 先天性痛覺缺失疾病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(無(wú)淚) progressivePain and temperature peception mild to moderate lossLack of fungiform papilla

5、e Anhydrosis,hyperpyrexia Profound pain lossSever learning disability/Self mutilationSelf-mutilation先天性痛覺缺失疾病5detailsHSAN HSAN HSAN OnsetLack of axon flare先天性痛覺缺失疾病6Lack of axon flare先天性痛覺缺失疾病6先天性痛覺缺失疾病7先天性痛覺缺失疾病7先天性痛覺缺失疾病8先天性痛覺缺失疾病8Myelinated fibers Unmyelinated fibersHSAN Sever lossSome lossHSAN T

6、otal loss of large-diameter myelinated neuronsSever lossHSAN Reduction of small myelinated fiersVirtually abscenceHSAN累及的神經(jīng)纖維先天性痛覺缺失疾病9Myelinated fibers Unmyelinated夏科關(guān)節(jié)（神經(jīng)源性關(guān)節(jié)?。┫忍煨酝从X缺失疾病10夏科關(guān)節(jié)（神經(jīng)源性關(guān)節(jié)?。┫忍煨酝从X缺失疾病10先天性痛覺缺失疾病11先天性痛覺缺失疾病11先天性痛覺缺失疾病12先天性痛覺缺失疾病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先天性痛覺缺失疾病13Autonomic dysfunctionOral inco先天性痛覺缺失疾病14先天性痛覺缺失疾病14先天性痛覺缺失疾病15先天性痛覺缺失疾病15detailsHSAN HSAN HSAN 出生時(shí)就表現(xiàn)癥狀;缺少軸索反射;有髓和無(wú)髓神經(jīng)纖維均有受損;發(fā)育遲緩;嚴(yán)重和普遍性的感覺喪失“肢端營(yíng)養(yǎng)障礙型神經(jīng)病變”胃食道反流常見但基本上沒有其他的自主神經(jīng)系統(tǒng)病變非進(jìn)行性發(fā)病 菌狀乳頭缺失嚴(yán)重的自主神經(jīng)系統(tǒng)失調(diào)無(wú)淚 進(jìn)行性發(fā)病痛溫覺輕度到中度缺失無(wú)汗,高熱 嚴(yán)重的痛覺喪失嚴(yán)重學(xué)習(xí)障礙/自殘行為菌狀乳頭缺失自殘行為先天性痛覺缺失疾病16detailsHSAN HSAN H