Abstract：
Systemic sclerosis (SSc) poses significant challenges in clinical management, especially when complicated by scleroderma renal crisis (SRC), a rare but life-threatening manifestation. Here, we report a 41-year-old female patient with SSc who presented with SRC and concurrent thrombotic microangiopathy. Her condition persisted despite conventional treatments such as plasma exchange and renin-angiotensin-aldosterone system blockade. In particular, treatment with eculizumab, a C5 complement inhibitor, led to a rapid improvement in platelet count, reduction in lactate dehydrogenase levels, and complete recovery of renal function. Genetic testing revealed a variant of unknown significance in the thrombomodulin (THBD) gene, which is associated with the complement system. This case highlights the complex interplay between complement dysregulation and SRC, and highlights the promising role of eculizumab in refractory cases. Further investigation of complement involvement and the efficacy of eculizumab in SRC warrants attention to improving therapeutic outcomes in this challenging condition.
摘要：
系统性硬化症（SSc）在临床管理中提出了重大挑战，特别是当并发硬皮病肾危象（SRC）时，一种罕见但危及生命的表现。这里,我们报道1例41岁女性SSc患者,表现为SRC和并发血栓性微血管病.尽管进行了常规治疗，例如血浆置换和肾素-血管紧张素-醛固酮系统阻断，但她的病情仍然存在。特别是,用依库珠单抗治疗，C5补体抑制剂,导致血小板计数快速改善，乳酸脱氢酶水平降低，肾功能完全恢复.基因检测揭示了血栓调节蛋白（THBD）基因中未知意义的变异，与补体系统有关。这个案例强调了补体失调和SRC之间复杂的相互作用，并强调了依库珠单抗在难治性病例中的有希望的作用。对补体参与和依库珠单抗在SRC中的功效的进一步研究需要关注在这种挑战性条件下改善治疗结果。
