Alejandre Nicolás, Ruiz-Palacios Ana, García-Aparicio Angel M, Blanco-Kelly Fiona, Bermúdez Sandra, Fernández-Sanz Guillermo, Romero Fredeswinda I, Aróstegui Juan I, Ayuso Carmen, Jiménez-Alfaro Ignacio, Herrero-Beaumont Gabriel, Sánchez-Pernaute Olga
Rheumatology (Oxford). 2014 Jun;53(6):1095-9. doi: 10.1093/rheumatology/ket486.
The aim of this study was to describe a family with cryopyrin-associated periodic syndrome (CAPS) in which the disease was unveiled after the ophthalmologic evaluation.
Family and personal histories from each of the patients were recorded. Each underwent a full ophthalmological examination along with the physical examination. The mutational analysis of the NLRP3 gene was performed by means of direct sequencing.
The proband was admitted during an episode of unilateral anterior uveitis. She had a history of recurrent red eye and had been suffering episodes of skin rash and arthralgia induced by cold since childhood. At examination, she showed a reticulated corneal mid-stroma. Her mother and her younger sister also suffered from relapsing episodes of skin rash and fever triggered by cold as well as flares of red eye. They had developed premature hearing loss. In both cases, opacities in the corneal mid-stroma were evidenced with a slit lamp. The genetic analysis detected the heterozygous germline p.R260W mutation in the NLRP3 gene in the three women, confirming the diagnosis of CAPS. Treatment with anakinra resulted in complete remission of flares.
In this family, a structural NLRP3 mutation was associated with classic MuckleWells features of different degrees of severity. Interstitial keratitis with corneal opacification, usually ascribed to neonatal-onset multisystem inflammatory disease, was found. We underscore that ocular involvement in MuckleWells syndrome should be carefully assessed, since it can lead to visual impairment.
本研究旨在描述一个与冷吡啉相关的周期性综合征（CAPS）家族，该疾病在眼科评估后被发现。
记录每位患者的家族史和个人史。每位患者均接受了全面的眼科检查以及体格检查。通过直接测序对NLRP3基因进行突变分析。
先证者在单侧前葡萄膜炎发作期间入院。她有反复眼红病史，自幼就有因寒冷诱发的皮疹和关节痛发作。检查时，她的角膜基质中层出现网状改变。她的母亲和妹妹也有因寒冷引发的皮疹和发热复发以及眼红发作。她们出现了过早的听力丧失。在这两个病例中，裂隙灯检查均发现角膜基质中层混浊。基因分析在这三名女性中检测到NLRP3基因的杂合种系p.R260W突变，证实了CAPS的诊断。用阿那白滞素治疗使发作完全缓解。
在这个家族中，NLRP3基因的结构性突变与不同严重程度的经典Muckle-Wells特征相关。发现了通常归因于新生儿期多系统炎症性疾病的伴有角膜混浊的间质性角膜炎。我们强调，应仔细评估Muckle-Wells综合征的眼部受累情况，因为它可能导致视力损害。
