医学交流课件：罕见病会诊.pptx

罕见病会诊内容Histiocytic disorders: insights into novel biology and implications for therapy of Langerhans cell histiocytosis and Erdheim-Chester disease Updates on the diagnosis and management of the most common hereditary porphyrias: AIP and EPP A patient with Gaucher disease and plasma cell dyscrasia: bidirectional impact Langerhans cell histiocytosis(LCH)Case 1F/34，进行性黄疸半年Tbil 123；Dbil 110；ALP 423；rGT 870；ALT 42腹部CT：肝脏轻度增大，肝内胆管轻度扩张MRCP: 胆总管多发狭窄，呈串珠样改变既往：22岁诊断为中枢性尿崩；5年前有气胸病史？？？组织细胞肿瘤-WHO 2016分类Blood, 2016;127: 2672LCH是一种罕见的血液肿瘤儿童 (4.6/百万) vs 成人 (1-2/百万)男性多见：2.0：1N=266 成人LCH年份PUMCH, unpublished da