Division of Nephrology and Rheumatology, National Center for Child Health and Development, Tokyo, Japan.
Division of Pulmonology, National Center for Child Health and Development, Tokyo, Japan.
Pediatr Rheumatol Online J. 2022 Aug 4;20(1):60. doi: 10.1186/s12969-022-00723-5.
Rapidly progressive (RP) interstitial lung disease (ILD) is a life-threatening complication of juvenile dermatomyositis (JDM); however, it is generally refractory to treatment; to the best of our knowledge, no evidence-based treatment has been established for RP-ILD yet. We present the case of a 2-year-old girl with RP-ILD who showed resistance to treatment with methylprednisolone, cyclosporine A, cyclophosphamide, immunoglobulin, and plasma exchange (PE) and was finally treated with extracorporeal membrane oxygenation. We further present a literature review of 18 cases of JDM with RP-ILD.
A 2-year-old girl presented with malar rash, mild muscle weakness, and weight loss for a few months before admission. She had a history of dry cough and dyspnea for a few days, followed by rapid respiratory failure. The patient was diagnosed with JDM with RP-ILD through physical examination (malar rashes and Gottron's sign) and based on the finding of myositis on femoral magnetic resonance imaging, elevated levels of serum muscle enzymes, positive anti-melanoma differentiation-association gene 5 (MDA5) antibody (> 7,500 index), elevated level of Krebs von den Lungen-6 glycoprotein (KL-6; 3,420 U/mL), and extensive ground-glass opacities with consolidation in the bilateral lungs on chest high-resolution computed tomography. She received combination therapy, including methylprednisolone pulse therapy, followed by oral prednisolone and intravenous cyclosporine A, cyclophosphamide, and immunoglobulin. On day 11 of hospitalization, she was placed on ventilation support and PE was initiated. However, her respiratory condition continued to deteriorate and veno-venous extracorporeal membrane oxygenation was started on day 24 of hospitalization. Rituximab was administered on day 28. After 2 weeks of rituximab therapy initiation, her respiratory condition showed gradual improvements. Eventually, on day 52 of hospitalization, the patient could be weaned off extracorporeal membrane oxygenation. Finally, she was discharged with minimal ventilation support and no neurological complications 11 months after admission.
Our literature review suggest that JDM with RP-ILD has a high mortality rate. In JDM, rituximab may be a promising treatment option for RP-ILD. In the future, the efficacy of rituximab in the early phases of ILD should be investigated.
快速进展性（RP）间质性肺疾病（ILD）是儿童皮肌炎（JDM）的一种危及生命的并发症；然而，它通常对治疗有抗药性；据我们所知，目前尚未为 RP-ILD 确立基于证据的治疗方法。我们报告了一例 2 岁女孩患有 RP-ILD 的病例，她对甲基强的松龙、环孢素 A、环磷酰胺、免疫球蛋白和血浆置换（PE）治疗有抗药性，最终接受了体外膜氧合治疗。我们进一步回顾了 18 例 JDM 合并 RP-ILD 的病例。
一名 2 岁女孩因入院前数月出现面颊皮疹、轻度肌无力和体重减轻，入院前几天出现干咳和呼吸困难，随后迅速出现呼吸衰竭。通过体格检查（面颊皮疹和 Gottron 征）和股磁共振成像检查发现肌炎、血清肌肉酶水平升高、抗黑色素瘤分化相关基因 5（MDA5）抗体阳性（>7500 指数）、Krebs von den Lungen-6 糖蛋白（KL-6；3420 U/mL）水平升高以及胸部高分辨率计算机断层扫描显示双侧肺部广泛磨玻璃影伴实变，该患者被诊断为 JDM 合并 RP-ILD。她接受了联合治疗，包括甲基强的松龙脉冲治疗，随后口服泼尼松龙和静脉环孢素 A、环磷酰胺和免疫球蛋白。入院第 11 天，她开始接受通气支持并开始进行 PE。然而，她的呼吸状况继续恶化，入院第 24 天开始进行静脉-静脉体外膜氧合。入院第 28 天给予利妥昔单抗。利妥昔单抗治疗开始后 2 周，她的呼吸状况逐渐改善。最终，入院第 52 天，患者可以脱离体外膜氧合。最终，入院 11 个月后，她在接受最小程度通气支持的情况下出院，没有出现神经并发症。
我们的文献回顾表明，JDM 合并 RP-ILD 的死亡率很高。在 JDM 中，利妥昔单抗可能是治疗 RP-ILD 的一种有前途的治疗选择。未来，应研究利妥昔单抗在ILD 早期阶段的疗效。
