Mahrous Nahed N, Jamous Yahya F, Almatrafi Ahmad M, Fallatah Deema I, Theyab Abdulrahman, Alanati Bayan H, Alsagaby Suliman A, Alenazi Munifa K, Khan Mohammed I, Hawsawi Yousef M
Department of Biological Sciences, College of Science, University of Hafr Al-Batin, Hafr Al-Batin 39524, Saudi Arabia.
The National Center of Vaccines and Bioprocessing, King Abdulaziz City for Science and Technology, Riyadh 12354, Saudi Arabia.
Biomedicines. 2023 Oct 12;11(10):2762. doi: 10.3390/biomedicines11102762.
Alport syndrome (AS) is a rare genetic disorder categorized by the progressive loss of kidney function, sensorineural hearing loss and eye abnormalities. It occurs due to mutations in three genes that encode for the alpha chains of type IV collagen. Globally, the disease is classified based on the pattern of inheritance into X-linked AS (XLAS), which is caused by pathogenic variants in COL4A5, representing 80% of AS. Autosomal recessive AS (ARAS), caused by mutations in either COL4A3 or COL4A4, represents 15% of AS. Autosomal dominant AS (ADAS) is rare and has been recorded in 5% of all cases due to mutations in COL4A3 or COL4A4. This review provides updated knowledge about AS including its clinical and genetic characteristics in addition to available therapies that only slow the progression of the disease. It also focuses on reported cases in Saudi Arabia and their prevalence. Moreover, we shed light on advances in genetic technologies like gene editing using CRISPR/Cas9 technology, the need for an early diagnosis of AS and managing the progression of the disease. Eventually, we provide a few recommendations for disease management, particularly in regions like Saudi Arabia where consanguineous marriages increase the risk.
奥尔波特综合征（AS）是一种罕见的遗传性疾病，其特征为进行性肾功能丧失、感音神经性听力损失和眼部异常。它是由编码IV型胶原α链的三个基因突变引起的。在全球范围内，该疾病根据遗传模式分为X连锁AS（XLAS），由COL4A5中的致病变异引起，占AS的80%。常染色体隐性AS（ARAS）由COL4A3或COL4A4中的突变引起，占AS的15%。常染色体显性AS（ADAS）很少见，在所有病例中占5%，是由COL4A3或COL4A4中的突变导致的。本综述提供了关于AS的最新知识，包括其临床和遗传特征以及仅能减缓疾病进展的现有治疗方法。它还关注沙特阿拉伯报告的病例及其患病率。此外，我们阐述了基因编辑等遗传技术的进展，如使用CRISPR/Cas9技术，以及AS早期诊断和控制疾病进展的必要性。最后，我们为疾病管理提供了一些建议，特别是在沙特阿拉伯等近亲结婚增加风险的地区。
