ROSAH综合征一例的多学科诊疗

钟林庆, 马明圣, 睢瑞芳, 洪霞, 冯逢, 霍力, 戴梦华, 徐强, 宋红梅

钟林庆, 马明圣, 睢瑞芳, 洪霞, 冯逢, 霍力, 戴梦华, 徐强, 宋红梅. ROSAH综合征一例的多学科诊疗[J]. 罕见病研究, 2022, 1(3): 289-295. DOI: 10.12376/j.issn.2097-0501.2022.03.010
引用本文: 钟林庆, 马明圣, 睢瑞芳, 洪霞, 冯逢, 霍力, 戴梦华, 徐强, 宋红梅. ROSAH综合征一例的多学科诊疗[J]. 罕见病研究, 2022, 1(3): 289-295. DOI: 10.12376/j.issn.2097-0501.2022.03.010
ZHONG Linqing, MA Mingsheng, SUI Ruifang, HONG Xia, FENG Feng, HUO Li, DAI Menghua, XU Qiang, SONG Hongmei. Multidisciplinary Treatment on a Case of ROSAH Syndrome[J]. Journal of Rare Diseases, 2022, 1(3): 289-295. DOI: 10.12376/j.issn.2097-0501.2022.03.010
Citation: ZHONG Linqing, MA Mingsheng, SUI Ruifang, HONG Xia, FENG Feng, HUO Li, DAI Menghua, XU Qiang, SONG Hongmei. Multidisciplinary Treatment on a Case of ROSAH Syndrome[J]. Journal of Rare Diseases, 2022, 1(3): 289-295. DOI: 10.12376/j.issn.2097-0501.2022.03.010

ROSAH综合征一例的多学科诊疗

基金项目: 

国家重点研发计划 2021YFC2702001

国家重点研发计划 2016YFC0901500

北京市自然科学基金 L202050

中国医学科学院医学与健康科技创新工程项目 CIFMS 2021-I2M-C & T-B-008

详细信息
    通讯作者:

    宋红梅,E-mail:songhm1021@hotmail.com

  • 中图分类号: R441.1

Multidisciplinary Treatment on a Case of ROSAH Syndrome

Funds: 

National Key Research and Development Program of China 2021YFC2702001

National Key Research and Development Program of China 2016YFC0901500

Natural Science Foundation of Beijing L202050

CAMS Innovation Fund for Medical Sciences CIFMS 2021-I2M-C & T-B-008

More Information
  • 摘要:

    一例15岁青少年女性,因间断发热就诊,由此发现巨脾、继发脾功能亢进、视网膜色素变性,以及多种外胚层发育不良的表现等多系统病症。追问病史,挖掘复杂的既往史,包括反复呼吸道感染、夜间视物不清、牙齿和甲床发育不良等。经北京协和医院儿科风湿免疫专业组的经验分析,疑诊为一种近年新认识的罕见病——ROSAH综合征,最终得到基因测序结果的证实。在生物制剂肿瘤坏死因子抑制剂治疗过程中,该患者再次反复发热,伴炎症指标升高,且新出现头痛。罕见病多学科会诊团队为指导患者综合治疗、改善患者生活质量展开讨论,指导治疗。

    Abstract:

    A 15-year-old female was referred to the hospital with intermittent fever, where multiple systemic abnormalities were found, such as splenomegaly, secondary hypersplenism, retinitis pigmentosa, and ectodermal dysplasia. Medical history revealed that she had suffered recurrent respiratory infections, blurred vision at night, and dysplasia of teeth and nail beds since childhood. Then she was suspected to be experiencing ROSAH syndrome, a rare disease newly recognized in recent years, which was finally confirmed by gene sequencing results. During a course of treatment with tumor necrosis factor inhibitors, recurrent fever with elevated inflammatory markers reappeared, and the child developed headaches. To guide the comprehensive treatment and improve the patient's quality of life, the multidisciplinary team in Peking Union Medical College Hospital discussed together and directed the following treatment.

  • 倪鑫

    北京儿童医院  院长

    《罕见病研究》副主编

    全球罕见病患者已达2.63~4.46亿,数之众堪比大国。Orphanet数据库中,5018种罕见病记录显示,儿童是罕见病主群体:3510种仅在儿童期发病,占56.9%;908种从儿童期到成年期皆可发病,占14.7%;600种仅在成年期发病,占9.7%。罕见病通常影响多器官系统,病程呈慢性、进行性、耗竭性,最终造成残疾甚而危及生命。罕见病患儿中约30%无法等到庆祝自己的5岁生日。由于罕见病药物研发风险大,常使研发者望而却步,因此,罕见病用药也称为孤儿药。令人欣喜的是,近年来我国多部门陆续出台多项相关政策,积极推进全国罕见病诊疗协作网及救助体系的建立等“中国模式”的探索,让罕见病儿童看到了从容生存的希望;也让从事罕见病的临床和科研工作者感到了如山的依靠,重燃对罕见病的诊治热情而投入无涯的研究!

    儿科是罕见病患者救治的主战场,儿科医师是推动我国罕见病规范诊疗的主力军。儿科医师需要密切追踪国内外罕见病领域研究前沿,不断学习罕见病诊疗,开展案例交流。深入研究罕见病要从认识疾病开始,进而及早诊断、规范治疗、系统随访。然而,因疾病罕见而造成认识不足,漏诊、误诊其实难免。《罕见病研究》杂志搭建了优秀的交流学习平台,在拥有丰富经验的多学科专家共同参与下,将该杂志打造成“罕见病诊治新知的给养站”。孤儿药的研发和使用经验在此分享,使之成为医师汲取“罕见病新药体验的滋养泉”。医者大智,乐于攀登高峰;郎中普仁,共享学海浩瀚。不仅使罕见病诊疗研究推至新高度,更重要的是释放患儿的救治困窘,使他们获得从容的人生。

    本期为儿童罕见病专刊,内容丰富新颖,栏目设置包括述评、专家笔谈、论著、指南与共识、诊疗方案、病例报告、孤儿药专栏和综述等,系统阐述了儿童罕见病的诊治现状及相关精准治疗的探索,对于儿童罕见肾脏病、自身炎症性疾病、Blau综合征、Alport综合征、高免疫球蛋白E综合征、罕见综合征耳聋及戈谢病等多种疾病的临床特征、诊断和治疗进展等进行了分析和总结,展示了青少年女性ROSAH综合征的多学科病例讨论,且有多例儿童罕见病的病例报告分享。籍以此专刊的出版,对全国范围内从事儿童罕见病的医师提供临床参考,更好地为广大患儿服务。

    生命若是旅行,感恩是最美的绽放,成全千回百转的温暖。智者乐山山如画,仁者乐水水无涯。让我们共同为罕见病儿童从容的未来努力!

    2022年7月

    作者贡献:论文选题:宋红梅,马明圣;临床诊治:钟林庆,马明圣,宋红梅,睢瑞芳,洪霞,冯逢,霍力,戴梦华,徐强;数据收集:钟林庆;文章撰写与研究设计:钟林庆,马明圣,宋红梅;文章审阅与修改:宋红梅,马明圣。
    利益冲突:所有作者均声明不存在利益冲突。
  • 图  1   腹部CT断层扫描示脾脏肿大

    Figure  1.   Abdominal computerized tomography showed the splenomegaly

    图  2   患者的眼科检查结果

    A、B.视网膜色素紊乱,视盘水肿;C、D.视网膜椭圆体带破坏;E.视网膜电图示各振幅均重度降低

    Figure  2.   Results of the patient's ocular examination

    图  3   患者及其父母的Sanger测序结果

    突变位点用红色箭头表示

    Figure  3.   The Sanger sequencing results of the patient and her parents

    图  4   患者炎症指标与症状随治疗变化情况

    蓝色方块为英夫利昔单抗治疗期间,黑色方块为阿达木单抗治疗期间;两个黑色箭头之间无发热,之外均有反复发热;红色箭头为头痛开始的时间点

    Figure  4.   Inflammatory indicators and symptoms change with treatment

    图  5   患者颜面部、口腔及手指变化情况

    A.眉毛、头发稀疏、细软,贫血貌;B.龋齿、牙釉质发黄;C.杵状指

    Figure  5.   The changes of patient's face, mouth and fingers

  • [1]

    Williams LB, Javed A, Sabri A, et al. ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder[J]. Genet Med, 2019, 21: 2103-2115. doi: 10.1038/s41436-019-0476-3

    [2]

    Jamilloux Y, Mathis T, Grunewald O, et al. ALPK1 gene mutations drive autoinflammation with ectodermal dysplasia and progressive vision loss[J]. J Clin Immunol, 2021, 41: 1671-1673. doi: 10.1007/s10875-021-01087-3

    [3]

    Zhong L, Wang J, Wang W, et al. Juvenile onset splenomegaly and oculopathy due to germline mutation in ALPK1[J]. J Clin Immunol, 2020, 40: 350-358. doi: 10.1007/s10875-020-00741-6

    [4]

    Sangiorgi E, Azzarà A, Molinario C, et al. Rare missense variants in the ALPK1 gene may predispose to periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome[J]. Eur J Hum Genet, 2019, 27: 1361-1368. doi: 10.1038/s41431-019-0421-6

    [5]

    Hecker J, Letizia M, Loescher BS, et al. Early onset of TNFα-driven arthritis, auto-inflammation, and progressive loss of vision in a patient with ALPK1 mutation[J]. J Clin Immunol, 2022, 42: 880-884. doi: 10.1007/s10875-022-01214-8

图(5)
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出版历程
  • 收稿日期:  2022-07-05
  • 录用日期:  2022-07-14
  • 网络出版日期:  2022-09-05
  • 刊出日期:  2022-07-29

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