Öksel Ali, Şahin Nihal, Günlemez Ayla
Medicalpark Hospital, Pediatrics, Kocaeli, Turkey.
Department of Pediatric Rheumatology, Kocaeli University, Kocaeli, Turkey.
Eur J Pediatr. 2025 Mar 18;184(4):256. doi: 10.1007/s00431-025-06086-9.
Pediatric rheumatologic diseases are complex conditions that can present with various clinical manifestations, including fever, rash, joint involvement, and diarrhea, impacting more than one organ system and affecting all pediatric age groups from 0 to 18 years. This review focuses on rheumatologic diseases in neonates, encompassing both primary neonatal-onset conditions and those influenced by maternal autoimmune diseases and treatments during pregnancy. Diagnosing rheumatologic diseases in neonates is challenging due to their nonspecific symptoms, which can overlap with other conditions. While primary neonatal-onset diseases such as cryopyrin-associated periodic syndromes (CAPS), deficiency of IL-1 receptor antagonist (DIRA), and neonatal-onset juvenile idiopathic arthritis (JIA) are rare, maternal autoimmune diseases and their treatments can also impact neonatal health. Conditions like systemic lupus erythematosus (SLE) and antiphospholipid syndrome (APS) may increase neonatal risks, leading to complications such as thrombosis or pregnancy loss. Identifying these conditions early and providing the proper care is crucial to reduce morbidity and mortality in this vulnerable group.
Persistent fever, rash, or unexplained joint involvement warrants early referral to a pediatric rheumatologist. A multidisciplinary approach involving obstetricians, rheumatologists, and neonatologists is essential for timely diagnosis and optimal neonatal outcomes.
• Diagnosis of neonatal rheumatologic diseases is difficult because their symptoms are nonspecific and may overlap with other neonatal diseases. • Maternal autoantibodies transmitted through the placenta may lead to neonatal complications (e.g. congenital heart block, thrombosis).
• Long-term follow-up of autoinflammatory diseases is essential, as the absence of neonatal-specific damage indices limits the ability to assess disease progression and treatment outcomes, underscoring the need for validated scoring systems tailored to neonates. • Novel biomarkers, such as elevated levels of cord C-reactive protein, NT-proBNP, MMP-2, uPA, uPAR, and plasminogen, have been identified, offering new insights into potential diagnostic tools for cardiac neonatal lupus.
儿科风湿性疾病是复杂的病症，可表现出各种临床表现，包括发热、皮疹、关节受累和腹泻，影响多个器官系统，涉及从0至18岁的所有儿科年龄组。本综述聚焦于新生儿的风湿性疾病，包括原发性新生儿发病病症以及受母亲自身免疫性疾病和孕期治疗影响的病症。由于新生儿风湿性疾病的症状不具特异性，可与其他病症重叠，因此诊断具有挑战性。虽然原发性新生儿发病疾病，如冷吡啉相关周期性综合征（CAPS）、白细胞介素-1受体拮抗剂缺乏症（DIRA）和新生儿期幼年特发性关节炎（JIA）较为罕见，但母亲自身免疫性疾病及其治疗也会影响新生儿健康。系统性红斑狼疮（SLE）和抗磷脂综合征（APS）等病症可能增加新生儿风险，导致血栓形成或流产等并发症。早期识别这些病症并提供适当护理对于降低这一脆弱群体的发病率和死亡率至关重要。
持续发热、皮疹或不明原因的关节受累需要尽早转诊至儿科风湿病学家处。产科医生、风湿病学家和新生儿科医生参与的多学科方法对于及时诊断和实现最佳新生儿结局至关重要。
• 新生儿风湿性疾病的诊断困难，因为其症状不具特异性，可能与其他新生儿疾病重叠。• 通过胎盘传播的母亲自身抗体可能导致新生儿并发症（如先天性心脏传导阻滞、血栓形成）。
• 自身炎症性疾病的长期随访至关重要，因为缺乏新生儿特异性损伤指标限制了评估疾病进展和治疗效果的能力，强调需要有针对新生儿的经过验证的评分系统。• 已鉴定出新型生物标志物，如脐带C反应蛋白、N末端脑钠肽前体、基质金属蛋白酶-2、尿激酶型纤溶酶原激活物、尿激酶型纤溶酶原激活物受体和纤溶酶原水平升高，为心脏新生儿狼疮的潜在诊断工具提供了新见解。
