Grateau Gilles
Médecine Interne, Hôpital Tenon, 4, rue de la Chine, 75970 PARIS Cedex 20.
Bull Acad Natl Med. 2005 Jun;189(6):1235-46; discussion 1246-8.
Four diseases presenting mainly as intermittent bouts of inflammatory symptoms have been clinically and genetically characterized. At the head of this group is familial Mediterranean fever, which affects thousands of patients of Mediterranean ancestry. The other three entities are the tumor necrosis factor receptor superfamily 1A-associated periodic fever syndrome (TRAPS) with a dominant mode of inheritance; hyperimmunoglobulinemia D and periodic fever syndrome (HIDS); and the most recently recognized entity, which includes Muckle Wells syndrome, familial cold urticaria, and the chronic infantile neurological cutaneous and articular (CINCA) syndrome. Proper diagnosis of these entities is needed to begin specific clinical and therapeutic management.
四种主要表现为间歇性炎症症状的疾病已在临床和基因层面得到表征。这组疾病之首是家族性地中海热，它影响着数千名具有地中海血统的患者。另外三种病症是具有显性遗传模式的肿瘤坏死因子受体超家族1A相关周期性发热综合征（TRAPS）；高免疫球蛋白D血症和周期性发热综合征（HIDS）；以及最近确认的病症，包括穆-韦二氏综合征、家族性寒冷性荨麻疹和慢性婴儿神经皮肤和关节（CINCA）综合征。需要对这些病症进行准确诊断，以便开展具体的临床和治疗管理。
