乐偲, 刘岩, 秦岩, 焦禹豪, 苏龙翔, 徐军, 刘炜, 赵森, 杨璐, 王迁, 李宁宁, 陈有信, 韩冰, 张波, 李雪梅, 陈丽萌. 无尿、突盲、意识障碍:一例不寻常的“成人斯蒂尔斯病”[J]. 罕见病研究, 2022, 1(1): 51-55. DOI: 10.12376/j.issn.2097-0501.2022.01.009
引用本文: 乐偲, 刘岩, 秦岩, 焦禹豪, 苏龙翔, 徐军, 刘炜, 赵森, 杨璐, 王迁, 李宁宁, 陈有信, 韩冰, 张波, 李雪梅, 陈丽萌. 无尿、突盲、意识障碍:一例不寻常的“成人斯蒂尔斯病”[J]. 罕见病研究, 2022, 1(1): 51-55. DOI: 10.12376/j.issn.2097-0501.2022.01.009
YUE Cai, LIU Yan, QIN Yan, JIAO Yuhao, SU Longxiang, XU Jun, LIU Wei, ZHAO Sen, YANG Lu, WANG Qian, LI Ningning, CHEN Youxin, HAN Bing, ZHANG Bo, LI Xuemei, CHEN Limeng. Anuria, Sudden Blindless, Confusion: A Case of Unusual "Adult Still Disease"[J]. Journal of Rare Diseases, 2022, 1(1): 51-55. DOI: 10.12376/j.issn.2097-0501.2022.01.009
Citation: YUE Cai, LIU Yan, QIN Yan, JIAO Yuhao, SU Longxiang, XU Jun, LIU Wei, ZHAO Sen, YANG Lu, WANG Qian, LI Ningning, CHEN Youxin, HAN Bing, ZHANG Bo, LI Xuemei, CHEN Limeng. Anuria, Sudden Blindless, Confusion: A Case of Unusual "Adult Still Disease"[J]. Journal of Rare Diseases, 2022, 1(1): 51-55. DOI: 10.12376/j.issn.2097-0501.2022.01.009

无尿、突盲、意识障碍:一例不寻常的“成人斯蒂尔斯病”

Anuria, Sudden Blindless, Confusion: A Case of Unusual "Adult Still Disease"

  • 摘要: 一例青年女性,因发热、关节痛、皮疹诊断为成人斯蒂尔斯病,激素治疗过程中出现无尿、突盲、意识障碍,病情凶险,诊疗难度大。经多学科协作及团队共同讨论,考虑诊断为不典型溶血尿毒症综合征,经依库珠单抗治疗,获得良好的治疗效果。不典型溶血尿毒症综合征属于罕见疾病,依库珠单抗属于孤儿药。对该例患者的诊治体现了多学科协作在疑难罕见病诊疗过程中的重要意义。

     

    Abstract: A young female patient presented with fever, arthralgia, and rash was diagnosed with adults still's disease. When treated with glucocorticoid steroid, the above patient progressed to anuria, sudden, and confusion. After a teamwork involving different departments, the patient was finally diagnosed with atypical hemolytic uremic syndrome (aHUS) and treated with good outcome. aHUS is a rare disease, while Eculizumab is an orphan drug. The diagnosis and treatment of the patient reveals the importance of multidisciplinary team on the diagnosis and treatment of rare and difficult diseases.

     

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