突尼斯先天性糖基化紊乱综合征筛查的单中心经验:一项为期15年(2007-2021年)的回顾性研究。

IF 1.3 4区 医学 Q3 PEDIATRICS
Wiem Zidi , Sameh Hadj-Taieb , Ichraf Kraoua , Mongia Hachicha , Hassen Seboui , Kamel Monastiri , Saayda Ben Becher , Ilhem Turki , Haifa Sanhaji , Neji Tebib , Naziha Kaabachi , Moncef Feki , Monia Allal-Elasmi
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引用次数: 0

摘要

背景:我们报告了突尼斯15年来根据临床和生化特征筛查先天性糖基化紊乱综合征(CDGS)的结果:我们的实验室收到了来自不同部门和医院的 1055 份分析请求,这些请求都是针对临床怀疑患有 CDGS 的儿童。筛查是通过毛细管区带电泳分离转铁蛋白异构体进行的:结果:15 年间,23 名患者被确诊为 CDGS(19 名 CDG-Ia、3 名 CDG-IIx、1 名 CDG-X)。这些患者包括 13 名男孩和 10 名女孩,年龄在 3 个月至 13 岁之间,占总筛查人数 1055 人的 2.18%。据估计,突尼斯 CDGS 的发病率为 1:23,720 活产婴儿(每 100,000 人中有 4.21 例)。新生儿和年轻患者与临床疾病状态相关的主要临床症状为精神运动迟滞(91%)、小脑萎缩(91%)、共济失调(61%)、斜视(48%)、畸形症状(52%)、视网膜色素变性、白内障(35%)、肌张力低下(30%)和其他症状:结论:在突尼斯,CDGS 仍未得到充分诊断或误诊。与其他疾病(尤其是神经系统疾病)的相似性以及医生对这些疾病的不了解是诊断不足的主要原因。在常规诊断中,必须通过生化检验筛查 CDGS 才能完成临床诊断。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Single-center experience of congenital disorders of glycosylation syndrome screening in Tunisia: A retrospective study over a 15-year period (2007–2021)

Background

We report the results gathered over 15 years of screening for congenital disorders of glycosylation syndrome (CDGS) in Tunisia according to clinical and biochemical characteristics.

Methods

Our laboratory received 1055 analysis requests from various departments and hospitals, for children with a clinical suspicion of CDGS. The screening was carried out through separation of transferrin isoforms by capillary zone electrophoresis.

Results

During the 15-year period, 23 patients were diagnosed with CDGS (19 patients with CDG-Ia, three patients with CDG-IIx, and one patient with CDG-X). These patients included 13 boys and 10 girls aged between 3 months and 13 years, comprising 2.18 % of the total 1055 patients screened. The incidence for CDGS was estimated to be 1:23,720 live births (4.21 per 100,000) in Tunisia. The main clinical symptoms related to clinical disease state in newborn and younger patients were psychomotor retardation (91 %), cerebellar atrophy (91 %), ataxia (61 %), strabismus (48 %), dysmorphic symptoms (52 %), retinitis pigmentosa, cataract (35 %), hypotonia (30 %), and other symptoms.

Conclusion

In Tunisia, CDGS still remains underdiagnosed or misdiagnosed. The resemblance to other diseases, especially neurological disorders, and physicians’ unawareness of the existence of these diseases are the main reasons for the underdiagnosis. In routine diagnostics, the screening for CDGS by biochemical tests is mandatory to complete the clinical diagnosis.

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来源期刊
Archives De Pediatrie
Archives De Pediatrie 医学-小儿科
CiteScore
2.80
自引率
5.60%
发文量
106
审稿时长
24.1 weeks
期刊介绍: Archives de Pédiatrie publishes in English original Research papers, Review articles, Short communications, Practice guidelines, Editorials and Letters in all fields relevant to pediatrics. Eight issues of Archives de Pédiatrie are released annually, as well as supplementary and special editions to complete these regular issues. All manuscripts submitted to the journal are subjected to peer review by international experts, and must: Be written in excellent English, clear and easy to understand, precise and concise; Bring new, interesting, valid information - and improve clinical care or guide future research; Be solely the work of the author(s) stated; Not have been previously published elsewhere and not be under consideration by another journal; Be in accordance with the journal''s Guide for Authors'' instructions: manuscripts that fail to comply with these rules may be returned to the authors without being reviewed. Under no circumstances does the journal guarantee publication before the editorial board makes its final decision. Archives de Pédiatrie is the official publication of the French Society of Pediatrics.
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