Quintana-Ortega Cristian, Remesal Agustín, Ruiz de Valbuena Marta, de la Serna Olga, Laplaza-González María, Álvarez-Rojas Elena, Udaondo Clara, Alcobendas Rosa, Murias Sara
Pediatric Rheumatology Department, La Paz Children´s Hospital, Madrid, Spain.
Pediatric Pulmonology Department, La Paz Children's Hospital, Madrid, Spain.
Mod Rheumatol Case Rep. 2021 Jan;5(1):101-107. doi: 10.1080/24725625.2020.1832755. Epub 2020 Oct 20.
Anti-melanoma differentiation-associated gene 5 juvenile dermatomyositis (anti-MDA5 JDM) is associated with high risk of developing rapidly progressive interstitial lung disease (RP-ILD). Here we report an 11-year-old girl with anti-MDA5 JDM and RP-ILD which led to a fatal outcome, further aggravated by SARS-CoV-2 infection. She was referred to our hospital after being diagnosed with anti-MDA5 JDM and respiratory failure due to RP-ILD. On admission, fibrobronchoscopy with bronchoalveolar lavage (BAL) revealed infection so treatment with intravenous trimethoprim-sulfamethoxazole was initiated. Due to RP-ILD worsening, immunosuppressive therapy was intensified using methylprednisolone pulses, cyclophosphamide, tofacitinib and intravenous immunoglobulin without response. She developed severe hypoxemic respiratory failure, pneumomediastinum and pneumothorax, further complicated with severe RP-ILD and cervical subcutaneous emphysema. Three real-time RT-PCR for SARS-CoV-2 were made with a negative result. In addition, she was complicated with a secondary hemophagocytic lymphohistiocytosis and a fourth real-time PCR for SARS-CoV-2 performed in BAS sample was positive. Despite aggressive treatment of RP-ILD due to anti-MDA5 JDM, there was no improvement of respiratory failure in the following days and patient developed refractory septic shock and died. Anti-MDA5 JDM patients with RP-ILD have a poor prognosis with a high mortality rate. For this reason, intensive immunosuppressive therapy is essential including the use of promising drugs such as tofacitinib. COVID-19 in children with underlying health conditions like anti-MDA5 JDM may still be at risk for disease and severe complications.
抗黑色素瘤分化相关基因5型幼年皮肌炎（抗MDA5 JDM）与快速进展性间质性肺病（RP-ILD）的高发病风险相关。在此，我们报告一名11岁患抗MDA5 JDM和RP-ILD的女孩，其病情导致了致命结局，且因感染严重急性呼吸综合征冠状病毒2（SARS-CoV-2）而进一步恶化。她在被诊断为抗MDA5 JDM并因RP-ILD导致呼吸衰竭后被转诊至我院。入院时，经纤维支气管镜检查及支气管肺泡灌洗（BAL）发现感染，因此开始静脉输注甲氧苄啶-磺胺甲恶唑进行治疗。由于RP-ILD病情恶化，使用甲泼尼龙冲击、环磷酰胺、托法替布和静脉注射免疫球蛋白强化免疫抑制治疗，但无效果。她出现了严重的低氧性呼吸衰竭、纵隔气肿和气胸，并进一步合并严重的RP-ILD和颈部皮下气肿。进行了三次SARS-CoV-2实时逆转录聚合酶链反应（RT-PCR），结果均为阴性。此外，她还合并了继发性噬血细胞性淋巴组织细胞增生症，在支气管肺泡灌洗样本中进行的第四次SARS-CoV-2实时PCR检测呈阳性。尽管对抗MDA5 JDM所致的RP-ILD进行了积极治疗，但随后几天呼吸衰竭并无改善，患者发展为难治性感染性休克并死亡。患有RP-ILD的抗MDA5 JDM患者预后较差，死亡率高。因此，强化免疫抑制治疗至关重要，包括使用托法替布等有前景的药物。患有抗MDA5 JDM等基础疾病的儿童感染新型冠状病毒肺炎（COVID-19）仍可能面临患病及出现严重并发症的风险。
