RESUMEN
OBJECTIVE: 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. METHODS: 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. RESULTS: 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. CONCLUSION: 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.
Asunto(s)
Proteínas Portadoras/genética , Síndromes Periódicos Asociados a Criopirina/genética , Mutación Missense , Trastornos de la Visión/genética , Antirreumáticos/uso terapéutico , Síndromes Periódicos Asociados a Criopirina/tratamiento farmacológico , Femenino , Humanos , Proteína Antagonista del Receptor de Interleucina 1/uso terapéutico , Queratitis/genética , Persona de Mediana Edad , Proteína con Dominio Pirina 3 de la Familia NLR , Linaje , Resultado del Tratamiento , Uveítis Anterior/genética , Adulto JovenRESUMEN
OBJECTIVE: Although clinical reports have described medial meniscal subluxation (MMS) in knee OA, few controlled studies have used dynamic US to examine the potential impact of MMS on OA. The aim of this study was to assess MMS in patients with knee OA and in asymptomatic controls by US in different weight-bearing positions. METHODS: In a cross-sectional controlled study, MMS was evaluated by US in 33 symptomatic OA knees and in 13 control knees in supine neutral and unipodal weight-bearing positions. The reproducibility of US in this setting was assessed and the US measurements were compared between patients and controls. RESULTS: MMS was observed more frequently in OA knees than in controls in the unipodal weight-bearing position both before (P = 0.014) and after (P = 0.035) walking 50 m. In both OA and control knees, an increase in MMS was observed in the unipodal weight-bearing positions compared with the supine neutral position, but this increase was greater in OA knees than in controls (P < 0.001). CONCLUSION: Our findings confirm clinical observations that the medial meniscus undergoes significant subluxation in knee OA. The degree of subluxation is greater in weight-bearing than in non-weight-bearing positions. Dynamic US is a reproducible method for the assessment of MMS.