ter Haar Nienke M, van Royen Annet, van Gijn Mariëlle E, Frenkel Joost
Universitair Medisch Centrum Utrecht, Afd. Kindergeneeskunde, The Netherlands.
Ned Tijdschr Geneeskd. 2010;154:A1601.
Deficiency of interleukin(IL)-1 receptor antagonist (DIRA) is an autosomal recessive inherited inflammatory disease, characterised by pustular skin rash and characteristic osteolytic and hypertrophic bone lesions. If left untreated, the disease may progress to a fatal sepsis with multiple organ failure. The symptoms result from an uncontrolled activity of the pro-inflammatory cytokines IL-1 alpha and IL-1 beta, due to the genetic lacking of the natural antagonist, IL-1 receptor antagonist (IL-1RA). Suppletion of the deficient protein induces rapid complete remission. Two cases from one family, both female neonates, illustrate the fatal natural progression, as well as the course under suppletion of IL-1RA (anakinra). Early recognition of this rare disorder can be life saving.
白细胞介素（IL）-1受体拮抗剂缺乏症（DIRA）是一种常染色体隐性遗传性炎症性疾病，其特征为脓疱性皮炎以及特征性溶骨性和肥大性骨病变。若不进行治疗，该疾病可能会进展为伴有多器官衰竭的致命性败血症。这些症状是由于天然拮抗剂IL-1受体拮抗剂（IL-1RA）的基因缺失，导致促炎细胞因子IL-1α和IL-1β不受控制地活动所致。补充缺乏的蛋白质可诱导迅速完全缓解。来自一个家庭的两名女性新生儿病例说明了该疾病致命的自然进展情况，以及补充IL-1RA（阿那白滞素）后的病程。早期识别这种罕见疾病可挽救生命。
