Successful treatment with adalimumab for severe multifocal choroiditis and panuveitis in presumed (early-onset) ocular sarcoidosis
Successful treatment with adalimumab for severe multifocal choroiditis and panuveitis in presumed (early-onset) ocular sarcoidosis
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DOI：
10.1007/s10792-015-0135-x
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发表时间：
2016-02-01
影响因子：
1.6
通讯作者：
Gabriele, Simonini
中科院分区：
文献类型：
--
作者：
Achille, Marino;Ilaria, Pagnini;Gabriele, Simonini
早发性结节病（EOS）和Blau综合征是一种罕见的自身炎症性疾病，其特征是皮疹、肉芽肿性葡萄膜炎和对称性多关节炎三联征，发生于儿童早期。在本文中，我们描述了一个病例报告非常有趣的多学科管理（儿科风湿病学家和眼科医生），具有挑战性的诊断和最佳治疗的困难选择。我们描述了一名8岁儿童的病例报告，该儿童患有反复发作的急性葡萄膜炎，并发展为双侧肉芽肿性全葡萄膜炎，最初接受局部和全身类固醇治疗。NOD 2/CARD 15基因检测显示NBD结构域第4外显子存在杂合突变（P268 S/SNP 5）。因此，怀疑EOS不完整。由于葡萄膜炎恶化伴多灶性脉络膜视网膜炎加重，给予甲基强的松龙静脉推注。在类固醇逐渐减量期间，她再次发作，并开始沿着皮质类固醇冲击治疗。然而，出现了新的眼部肉芽肿，黄斑水肿伴视力结局差，因此，在MTX和类固醇的基础上添加阿达木单抗。新疗法开始6个月后，她的视力完全恢复，她能够停止类固醇治疗。在2年的随访中，她仍然处于治疗缓解期，视力正常。未观察到副作用。在我们的患者中，我们发现NOD 2/CARD 15基因的NBD结构域（P268 S/SNP 5）的第4外显子的杂合突变，并假设不完全EOS。目前正在研究这一变体的作用。阿达木单抗的使用极大地改变了眼病的病程，促使停止类固醇治疗并保持视力。
Early-onset sarcoidosis (EOS) and Blau syndrome are rare auto-inflammatory diseases characterized by a triad of skin rash, granulomatous uveitis, and symmetrical polyarthritis occurring in early childhood. In this paper, we describe a case report very interesting for the multidisciplinary management (pediatric rheumatologist and ophthalmologist), the challenging diagnosis and the difficult choice of the best treatment. We describe a case report of an 8-year old with recurrent episodes of acute uveitis that developed bilateral granulomatous panuveitis initially treated with topical and systemic steroids. Genetic testing for NOD2/CARD15 revealed a heterozygous mutation on exon 4 in the NBD domain (P268S/SNP5). Therefore, an incomplete EOS was suspected. Because uveitis worsening with multifocal chorioretinitis aggravation, intravenous boluses of methylprednisolone were administered. During the steroids tapering, she flared again, and methotrexate was started along with corticosteroids pulse therapy. However, new ocular granuloma appeared, macular oedema with poor visual outcome occurred, and therefore, adalimumab was added to MTX and steroids. After 6 months since the new therapy started, she had a complete visual recovery, and she was able to stop steroid treatment. At 2 years of follow-up, she is still in remission on treatment, and her visual acuity is normal. No side effects were observed. In our patient, we found a heterozygous mutation on exon 4 in the NBD domain (P268S/SNP5) of NOD2/CARD15 gene and an incomplete EOS was hypothesized. The role of this variant is currently under study. Adalimumab use dramatically changed the course of eye disease, prompting to stop steroid treatment and preserving visual acuity.