دورية أكاديمية
A case of autoimmune polyendocrine syndrome type 1 with ocular findings and unique AIRE gene defect
| العنوان: | A case of autoimmune polyendocrine syndrome type 1 with ocular findings and unique AIRE gene defect |
|---|---|
| المؤلفون: | Handan Akil, Ayse Derya Bulus, Nesibe Andiran, Pascale Saugier Veber, Soner Keskin |
| المصدر: | Journal of Clinical Ophthalmology and Research, Vol 4, Iss 1, Pp 37-39 (2016) |
| بيانات النشر: | Wolters Kluwer Medknow Publications, 2016. |
| سنة النشر: | 2016 |
| المجموعة: | LCC:Ophthalmology |
| مصطلحات موضوعية: | AIRE gene mutation, autoimmune polyendocrine syndrome, cataract, Ophthalmology, RE1-994 |
| الوصف: | Autoimmune polyendocrine syndrome type 1 (APS 1) is a rare autosomal recessive disorder that is characterized by autoimmunity against endocrine and ectodermal tissues. Clinical manifestations usually appear in childhood and consist of hypoparathyroidism, oral candidiasis, and adrenocortical insufficiency. Ocular complications include keratoconjunctivitis, dry eye, iridocyclitis, cataract, retinitis pigmentosa, and optic atrophy. We report a 9-year-old girl with APS 1 who had polar cataract in her left eye (LE), retinal changes with retinal pigment atrophy, and a new autoimmune regulator (AIRE) gene defect on chromosome 21. When a pediatric patient presents with decreased visual acuity with a history of chronic mucocutaneous candidiasis, ectodermal dysplasias, or hypoparathyroidism, we should consider the diagnosis of APS type 1 and arrange a pediatric endocrinological evaluation. The gene studied in this case may contribute to the characterization of the molecular pathology of the AIRE gene and may allow preclinical diagnosis in families at risk. |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | English |
| تدمد: | 2320-3897 |
| العلاقة: | http://www.jcor.in/article.asp?issn=2320-3897;year=2016;volume=4;issue=1;spage=37;epage=39;aulast=AkilTest; https://doaj.org/toc/2320-3897Test |
| DOI: | 10.4103/2320-3897.174414 |
| الوصول الحر: | https://doaj.org/article/094486f39f3a43e78a4cf8430be5d686Test |
| رقم الانضمام: | edsdoj.094486f39f3a43e78a4cf8430be5d686 |
| قاعدة البيانات: | Directory of Open Access Journals |
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