Al Ghaithi Ibrahim, Wright Nicola A M, Breakey Vicky R, Cox Kelly, Warias Ashley, Wong Tiffany, O'Connell Colleen, Price Victoria
Alberta Children's Hospital, Calgary, Alberta, Canada.
McMaster Children's Hospital, Hamilton, Ontario.
Pediatr Blood Cancer. 2016 Feb;63(2):292-8. doi: 10.1002/pbc.25769. Epub 2015 Sep 23.
Pediatric patients with chronic and/or refractory autoimmune multi-lineage cytopenias present challenges in both diagnosis and management. Increasing availability of diagnostic testing has revealed an underlying immune dysfunction in patients previously diagnosed with Evans Syndrome. However, the data are sparse and the majority of patients are adults.
We performed a retrospective chart review to document the natural history of 23 pediatric patients with autoimmune multi-lineage cytopenias followed at three tertiary care pediatric hematology clinics.
Investigations revealed seven patients (30.4%) with an autoimmune lymphoproliferative-like syndrome and six patients (26.1%) with other primary immunodeficiencies. Only one (4.3%) patient was suspected to have systemic lupus erythematosus and six patients (26.1%) had other types of autoimmunity. Treatment consisted of immunosuppressive therapy, intravenous gammaglobulin, and splenectomy. Supportive care included granulocyte-colony stimulating factor, and blood product transfusions. Two patients (8.7%) died. Complete remission was achieved in 3 patients (13.0%); of the remaining, 14 patients (60.9%) had chronic immune thrombocytopenic purpura, 10 patients (43.5%) chronic autoimmune neutropenia, and 4 patients (17.4%) chronic autoimmune hemolytic anemia with a median follow up of 5 years (2 months-12 years).
These data suggest that pediatric patients presenting with autoimmune multi-lineage cytopenias should undergo investigation for underlying immune dysregulation, including autoimmune lymphoproliferative syndrome, other primary immunodeficiencies and autoimmune disorders. The development of an international registry for such patients is imperative to improve the understanding of their complex natural history.
患有慢性和/或难治性自身免疫性多谱系血细胞减少症的儿科患者在诊断和管理方面均面临挑战。诊断检测手段的日益普及揭示了先前被诊断为伊文氏综合征患者存在潜在的免疫功能障碍。然而，相关数据稀少，且大多数患者为成年人。
我们进行了一项回顾性病历审查，以记录在三家三级儿科血液学诊所接受随访的23例自身免疫性多谱系血细胞减少症儿科患者的自然病程。
调查发现7例患者（30.4%）患有自身免疫性淋巴增殖样综合征，6例患者（26.1%）患有其他原发性免疫缺陷。仅1例患者（4.3%）疑似患有系统性红斑狼疮，6例患者（26.1%）患有其他类型的自身免疫性疾病。治疗包括免疫抑制治疗、静脉注射丙种球蛋白和脾切除术。支持性治疗包括粒细胞集落刺激因子和血液制品输注。2例患者（8.7%）死亡。3例患者（13.0%）实现完全缓解；其余患者中，14例（60.9%）患有慢性免疫性血小板减少性紫癜，10例（43.5%）患有慢性自身免疫性中性粒细胞减少症，4例（17.4%）患有慢性自身免疫性溶血性贫血，中位随访时间为5年（2个月至12年）。
这些数据表明，患有自身免疫性多谱系血细胞减少症的儿科患者应接受潜在免疫失调的调查，包括自身免疫性淋巴增殖综合征、其他原发性免疫缺陷和自身免疫性疾病。建立此类患者的国际登记册对于增进对其复杂自然病程的了解至关重要。
