دورية أكاديمية
Description of a new family with cryopyrin-associated periodic syndrome: risk of visual loss in patients bearing the R260W mutation.
| العنوان: | Description of a new family with cryopyrin-associated periodic syndrome: risk of visual loss in patients bearing the R260W mutation. |
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| المؤلفون: | Alejandre N, Ruiz-Palacios A, García-Aparicio AM, Blanco-Kelly F, Bermúdez S, Fernández-Sanz G, Romero FI, Aróstegui JI, Ayuso C, Jiménez-Alfaro I, Herrero-Beaumont G, Sánchez-Pernaute O |
| المصدر: | Rheumatology (Oxford, England) [Rheumatology (Oxford)] 2014 Jun; Vol. 53 (6), pp. 1095-9. |
| نوع المنشور: | Case Reports; Journal Article |
| اللغة: | English |
| بيانات الدورية: | Publisher: Oxford University Press Country of Publication: England NLM ID: 100883501 Publication Model: Print Cited Medium: Internet ISSN: 1462-0332 (Electronic) Linking ISSN: 14620324 NLM ISO Abbreviation: Rheumatology (Oxford) Subsets: MEDLINE |
| أسماء مطبوعة: | Original Publication: Oxford, UK : Avenel, N.J. : Oxford University Press ; Distributed by Mercury International, c1999- |
| مواضيع طبية MeSH: | Mutation, Missense*, Carrier Proteins/*genetics , Cryopyrin-Associated Periodic Syndromes/*genetics , Vision Disorders/*genetics, Antirheumatic Agents/therapeutic use ; Cryopyrin-Associated Periodic Syndromes/drug therapy ; Female ; Humans ; Interleukin 1 Receptor Antagonist Protein/therapeutic use ; Keratitis/genetics ; Middle Aged ; NLR Family, Pyrin Domain-Containing 3 Protein ; Pedigree ; Treatment Outcome ; Uveitis, Anterior/genetics ; Young Adult |
| مستخلص: | 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. |
| المشرفين على المادة: | 0 (Antirheumatic Agents) 0 (Carrier Proteins) 0 (Interleukin 1 Receptor Antagonist Protein) 0 (NLR Family, Pyrin Domain-Containing 3 Protein) 0 (NLRP3 protein, human) |
| تواريخ الأحداث: | Date Created: 20140207 Date Completed: 20140911 Latest Revision: 20161125 |
| رمز التحديث: | 20231215 |
| DOI: | 10.1093/rheumatology/ket486 |
| PMID: | 24501247 |
| قاعدة البيانات: | MEDLINE |
Full Text Finder | تدمد: | 1462-0332 |
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| DOI: | 10.1093/rheumatology/ket486 |