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

doi:10.12376/j.issn.2097-0501.2022.03.010

ROSAH综合征一例的多学科诊疗

doi: 10.12376/j.issn.2097-0501.2022.03.010

钟林庆¹,
马明圣¹,
睢瑞芳²,
洪霞³,
冯逢⁴,
霍力⁵,
戴梦华⁶,
徐强⁶,
宋红梅^1, ,

1.
中国医学科学院北京协和医院儿科，北京 100730
2.
中国医学科学院北京协和医院眼科，北京 100730
3.
中国医学科学院北京协和医院心理医学科，北京 100730
4.
中国医学科学院北京协和医院放射科，北京 100730
5.
中国医学科学院北京协和医院核医学科，北京 100730
6.
中国医学科学院北京协和医院基本外科，北京 100730

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

通信作者:
宋红梅，E-mail：songhm1021@hotmail.com

中图分类号: R441.1
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- 被引次数: 0
出版历程
- 收稿日期: 2022-07-06
- 录用日期: 2022-07-15
- 网络出版日期: 2022-09-06

Multidisciplinary Treatment on a Case of ROSAH Syndrome

1.
Department of Pediatrics, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China
2.
Department of Ophthalmology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China
3.
Department of Psychology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China
4.
epartment of Radiology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China
5.
Department of Nuclear Medicine, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China
6.
Basic Surgery Department, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China

Funding:

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

Corresponding author: SONG Hongmei, E-mail: songhm1021@hotmail.com

摘要

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。
- 脾脏肿大 /
- 眼底病变 /
- 外胚层发育不良 /
- 头痛 /
- 肿瘤坏死因子 /
- 自身炎症性疾病
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.
- splenomegaly /
- fundus lesions /
- ectodermal dysplasia /
- headache /
- tumor necrosis factor /
- autoinflammatory diseases
注释:

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。

HTML全文

图 1 腹部CT断层扫描示脾脏肿大

Figure 1. Abdominal computerized tomography showed the splenomegaly

下载: 全尺寸图片幻灯片

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

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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

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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

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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

下载: 全尺寸图片幻灯片

参考文献(5)

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[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