Piram Maryam, Koné-Paut Isabelle
AP-HP, université Paris Sud, CHU de Bicêtre, centre de référence des maladies auto-inflammatoires de l'enfant (CeRéMAI)(1), service de rhumatologie pédiatrique, 78, rue du Général-Leclerc, 94270 le Kremlin-Bicêtre, France.
AP-HP, université Paris Sud, CHU de Bicêtre, centre de référence des maladies auto-inflammatoires de l'enfant (CeRéMAI)(1), service de rhumatologie pédiatrique, 78, rue du Général-Leclerc, 94270 le Kremlin-Bicêtre, France.
Presse Med. 2015 Dec;44(12 Pt 1):1266-75. doi: 10.1016/j.lpm.2015.09.012. Epub 2015 Nov 6.
Recurrent fevers are defined as multiple stereotypical febrile episodes separated by spontaneous symptom-free intervals and occurring for months and years. Hereditary recurrent fevers are rare prototype Mendelian diseases due to inherited mutations in genes encoding partners of the innate immunity. Recurrent episodes of fever plus acute features of inflammation starting during childhood with family history are the main clues for suspecting HRF. Their common associated complication is AA amyloidosis. The diagnosis is made on clinical grounds but the genetic diagnosis may contribute in most cases of monogenic hereditary recurrent fevers. Recurrent fevers must be distinguished from intermittent fevers, mostly infectious, characterized by variation in associated symptoms from episode-to-episode and without periodicity.
复发性发热被定义为多个典型的发热发作，其间有自发的无症状间隔，且持续数月至数年。遗传性复发性发热是罕见的孟德尔疾病原型，由先天免疫相关基因的遗传性突变引起。儿童期起病并伴有家族史的发热反复发作以及炎症的急性特征是怀疑遗传性复发性发热的主要线索。其常见的相关并发症是AA淀粉样变性。诊断基于临床依据，但基因诊断在大多数单基因遗传性复发性发热病例中可能有所帮助。复发性发热必须与间歇性发热相区分，后者大多为感染性发热，其特点是每次发作的相关症状有所变化且无周期性。
