Laboratory of Biomedical Genomics and Oncogenetics, Institut Pasteur de Tunis, Tunis 1002, Tunisia.
Department of Biology, Faculty of Sciences of Bizerte, Université Tunis Carthage, Jarzouna 7021, Tunisia.
Genes (Basel). 2021 Nov 19;12(11):1820. doi: 10.3390/genes12111820.
Genetic diseases in Tunisia are a real public health problem given their chronicity and the lack of knowledge concerning their prevalence and etiology, and the high rates of consanguinity. Hence, we performed systematic reviews of the literature in order to provide a more recent spectrum of these disorders and to expose the challenges that still exist to tackle these kinds of diseases. A manual textual data mining was conducted using MeSH and PubMed databases. Collected data were classified according to the CIM-10 classification and the transmission mode. The spectrum of these diseases is estimated to be 589 entities. This suggests remarkable progress through the development of biomedical health research activities and building capacities. Sixty percent of the reported disorders are autosomal recessive, which could be explained by the high prevalence of endogamous mating. Congenital malformations (29.54%) are the major disease group, followed by metabolic diseases (22%). Sixty percent of the genetic diseases have a known molecular etiology. We also reported additional cases of comorbidity that seem to be a common phenomenon in our population. We also noticed that epidemiological data are scarce. Newborn and carrier screening was only limited to pilot projects for a few genetic diseases. Collected data are being integrated into a database under construction that will be a valuable decision-making tool. This study provides the current situation of genetic diseases in Tunisia and highlights their particularities. Early detection of the disease is important to initiate critical intervention and to reduce morbidity and mortality.
突尼斯的遗传性疾病是一个严重的公共卫生问题，这些疾病具有慢性特征，且人们对其流行率和病因缺乏了解，加上近亲结婚率高，情况更是雪上加霜。因此，我们进行了系统性文献回顾，旨在提供这些疾病的最新概况，并揭示目前在应对这类疾病方面所面临的挑战。我们采用 MeSH 和 PubMed 数据库进行手动文本数据挖掘。收集到的数据根据 CIM-10 分类和传播模式进行分类。这些疾病的种类估计有 589 种。这表明通过发展生物医学健康研究活动和建立能力，已经取得了显著的进展。报告的疾病中有 60%是常染色体隐性遗传，这可以用高发的近亲结婚来解释。先天性畸形（29.54%）是主要的疾病群体，其次是代谢疾病（22%）。60%的遗传性疾病有明确的分子病因。我们还报告了一些合并症的额外病例，这在我们的人群中似乎是一种常见现象。此外，我们还注意到，流行病学数据非常匮乏。新生儿和携带者筛查仅局限于少数几种遗传疾病的试点项目。收集到的数据正在整合到一个正在建设中的数据库中，该数据库将成为一个有价值的决策工具。本研究提供了突尼斯遗传性疾病的现状，并强调了其特殊性。早期发现疾病对于启动关键干预措施、降低发病率和死亡率非常重要。
