两名塞尔维亚成年患者GJB2基因p.D50N杂合的角膜炎-鱼鳞病-耳聋综合征

IF 0.5 4区 医学 Q4 GENETICS & HEREDITY
T Kalezić, I Vuković, M Stojković, S Stanojlović, J Karanović, G Brajušković, D Savić-Pavićević
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引用次数: 0

摘要

目的:角膜炎-鱼鳞病-耳聋(KID)综合征是一种罕见的先天性外胚层发育不良综合征,表现为角膜炎、鱼鳞病和感音神经性听力损失。KID综合征最常见的原因是编码连接蛋白26的GJB2基因的杂合错义突变。病例报告:在眼科检查中,两名成年女性主诉近期双眼视力恶化。记忆显示,他们的眼睛从童年早期开始就红肿发炎。两例患者均有睑缘增厚、角化、眼睫毛缺失、眼表角化引起的弥漫性角膜及结膜混浊、角膜浅、深血管化及角膜水肿。部分感音神经性听力丧失和语言障碍也伴有典型的鱼鳞状红皮病。GJB2基因的基因检测显示,两名患者均存在p.D50N杂合突变。患者接受局部皮质类固醇和人工泪液联合治疗,类固醇治疗在最后一个月加强。在六个月的随访中,该疗法通过减少角膜水肿和形成更有规律的气撕裂界面来提高视力。随后,尽管继续治疗,疾病仍继续发展。结论:本文为塞尔维亚儿童KID综合征的首次报道。尽管使用了局部皮质类固醇和人工泪液联合治疗,但这种疾病是无情地进展的,迄今为止使用的局部治疗方式的眼科症状的治疗成功令人失望。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

Keratitis-ichthyosis-deafness Syndrome with Heterozygous p.D50N in the <i>GJB2</i> Gene in Two Serbian Adult Patients.

Keratitis-ichthyosis-deafness Syndrome with Heterozygous p.D50N in the GJB2 Gene in Two Serbian Adult Patients.

Purpose: Keratitis-ichthyosis-deafness (KID) syndrome is a rare congenital ectodermal dysplastic syndrome presenting with keratitis, ichthyosis and sensorineural hearing loss. The most common causes of KID syndrome are heterozygous missense mutations in the GJB2 gene that codes for connexin 26.

Case report: During the ophthalmological examination, two adult females complained of recent worsening of visual acuity in both eyes. Anamnesis revealed that their eyes were red and irritated from early childhood onwards. Both of them had thickening and keratinisation of eyelid margins, lash loss, diffuse opacification of cornea and conjunctiva caused by keratinisation of eye surface, superficial and deep corneal vascularisation and corneal oedema. Partial sensorineural hearing loss and difficulties in speech were also noted along with typical ichthyosiform erythroderma. Genetic testing of the GJB2 gene revealed a heterozygous p.D50N mutation in both patients.Patients were treated with a combined topical corticosteroid and artificial tears therapy, with steroid therapy being intensified during the last month. The therapy increased the visual acuity by decreasing corneal oedema and by forming a more regular air-tear interface during the six months follow up. Subsequently, the disease progressed despite the continuation of the therapy.

Conclusion: This is the first report of Serbian patients with KID syndrome. Despite the administration of the combined topical corticosteroid and artificial tears therapy the disease is relentlessly progressive and therapeutic success of ophthalmological signs with local therapeutic modalities used so far had been disappointing.

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来源期刊
CiteScore
1.00
自引率
0.00%
发文量
0
审稿时长
>12 weeks
期刊介绍: Balkan Journal of Medical Genetics is a journal in the English language for publication of articles involving all branches of medical genetics: human cytogenetics, molecular genetics, clinical genetics, immunogenetics, oncogenetics, pharmacogenetics, population genetics, genetic screening and diagnosis of monogenic and polygenic diseases, prenatal and preimplantation genetic diagnosis, genetic counselling, advances in treatment and prevention.
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