Tornero-Romero Fernando, Sánchez-Hernandez Rosa, Cantero-Del Olmo Lara, Saravia-Moya Andres, Gonzalez de Rivera-Utrera Marina, Sánchez-Barbero Ana Isabel, Carreño-Salas Ester
Internal Medicine, Fundación Jiménez Díaz, Madrid, Spain.
Nephrology, Hospital de Villalba, Madrid, Spain.
Eur J Case Rep Intern Med. 2025 Mar 19;12(4):004989. doi: 10.12890/2025_004989. eCollection 2025.
In 2019, ROSAH syndrome (retinal dystrophy, optic nerve oedema, splenomegaly, anhidrosis, and headache) was identified in five families, attributed to a mutation in the gene. Subsequently, in 2022, it was classified within the spectrum of autoinflammatory diseases with multisystemic involvement. Evidence has demonstrated that this genetic mutation induces hyperactivation of the nuclear factor kappa-light-chain-enhancer of activated B cells (NF-KB) inflammasome pathway, and the clinical phenotype of 27 patients has been documented. We present the case of a patient who experienced an acute presentation characterized by anaemia, thrombocytopenia, and mild renal and hepatic dysfunction. Furthermore, this article underscores the remarkable therapeutic efficacy of interleukin 6 (IL-6) blockade and provides a detailed account of the clinical progression of the various organs and systems affected by the disease.
ROSAH is a syndrome that includes retinal dystrophy, optic nerve oedema, splenomegaly, anhidrosis and headache.So far it has only been reported in five families who have a mutation in the gene.Patients can improve dramatically on treatment with an interleukin 6 inhibitor.
2019年，在五个家族中发现了ROSAH综合征（视网膜营养不良、视神经水肿、脾肿大、无汗和头痛），归因于该基因的突变。随后，在2022年，它被归类为多系统受累的自身炎症性疾病谱。证据表明，这种基因突变会诱导活化B细胞核因子κ轻链增强子（NF-κB）炎性小体途径的过度激活，并且已经记录了27例患者的临床表型。我们报告了一例以贫血、血小板减少以及轻度肾和肝功能不全为特征的急性表现患者的病例。此外，本文强调了白细胞介素6（IL-6）阻断的显著治疗效果，并详细描述了受该疾病影响的各个器官和系统的临床进展。
ROSAH是一种包括视网膜营养不良、视神经水肿、脾肿大、无汗和头痛的综合征。到目前为止，仅在五个有该基因突变的家族中报道过。患者使用白细胞介素6抑制剂治疗后可显著改善。
