Çakan Mustafa, Aktay-Ayaz Nuray, Gemici Hakan, Annayev Agageldi, Çıtak Agop, Akçay Arzu, Öztürk Gülyüz
Clinics of Pediatric Rheumatology, Kanuni Sultan Süleyman Research and Training Hospital.
Clinics of Pediatrics, Kanuni Sultan Süleyman Research and Training Hospital, Kanuni Sultan Süleyman Research and Training Hospital.
Turk J Pediatr. 2018;60(5):598-603. doi: 10.24953/turkjped.2018.05.022.
Çakan M, Aktay-Ayaz N, Gemici H, Annayev A, Çıtak A, Akçay A, Öztürk G. Sustained hyperferritinemia in a child with macrophage activation syndrome secondary to systemic juvenile idiopathic arthritis - perforinopathy: case based review. Turk J Pediatr 2018; 60: 598-603. Systemic juvenile idiopathic arthritis is a subtype of juvenile idiopathic arthritis and characterized by arthritis and many systemic features like fever, rash, hepatosplenomegaly, lymphadenopathy and serositis. Macrophage activation syndrome is the most dreadful complication of systemic juvenile idiopathic arthritis and can cause mortality and morbidity if not recognized and treated early and aggressively. Hemophagocytic lymphohistiocytosis (HLH) is characterized by diminished or absent activities of natural killer cells and cytotoxic T lymphocytes leading to cytokine storm and uncontrolled activation of T cells and macrophages. Primary (familial) HLH is a group of autosomal recessive disorders caused by mutations in the perforin and other related genes and distinctive for onset during early infancy and high rate of mortality. Secondary HLH may be caused by infectious, oncologic and rheumatologic disorders. The term Perforinopathy is used to describe cases with classical familial HLH and also for cases with familial HLH gene mutations but not following a classical familial HLH course. Herein we report a case of chronic perforinopathy in which clinical symptoms started with systemic juvenile idiopathic arthritis and severe macrophage activation syndrome that needed plasma exchange and extracorporeal membrane oxygenation during acute period and ongoing interleukin-1 blockage for sustained hyperferritinemia.
恰坎·M、阿克泰-阿亚兹·N、杰米西·H、安娜耶夫·A、奇塔克·A、阿克恰伊·A、奥兹图尔克·G。继发于系统性幼年特发性关节炎-穿孔素病的巨噬细胞活化综合征患儿的持续性高铁蛋白血症：病例回顾。《土耳其儿科学杂志》2018年；60:598 - 603。系统性幼年特发性关节炎是幼年特发性关节炎的一种亚型，其特征为关节炎以及许多全身症状，如发热、皮疹、肝脾肿大、淋巴结病和浆膜炎。巨噬细胞活化综合征是系统性幼年特发性关节炎最可怕的并发症，如果不及早且积极地识别和治疗，可导致死亡和发病。噬血细胞性淋巴组织细胞增生症（HLH）的特征是自然杀伤细胞和细胞毒性T淋巴细胞的活性降低或缺失，导致细胞因子风暴以及T细胞和巨噬细胞的不受控制的活化。原发性（家族性）HLH是一组由穿孔素及其他相关基因突变引起的常染色体隐性疾病，其特点是在婴儿早期发病且死亡率高。继发性HLH可能由感染性、肿瘤性和风湿性疾病引起。术语“穿孔素病”用于描述经典家族性HLH病例以及有家族性HLH基因突变但未遵循经典家族性HLH病程的病例。在此，我们报告一例慢性穿孔素病病例，其临床症状始于系统性幼年特发性关节炎和严重的巨噬细胞活化综合征，急性期需要进行血浆置换和体外膜肺氧合，以及针对持续性高铁蛋白血症进行持续的白细胞介素-1阻断治疗。
