A Current Landscape on Alport Syndrome Cases: Characterization, Therapy and Management Perspectives
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 p...
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MDPI AG
2023-10-01
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| Series: | Biomedicines |
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| Online Access: | https://www.mdpi.com/2227-9059/11/10/2762 |
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| author | Nahed N. Mahrous Yahya F. Jamous Ahmad M. Almatrafi Deema I. Fallatah Abdulrahman Theyab Bayan H. Alanati Suliman A. Alsagaby Munifa K. Alenazi Mohammed I. Khan Yousef M. Hawsawi |
| author_facet | Nahed N. Mahrous Yahya F. Jamous Ahmad M. Almatrafi Deema I. Fallatah Abdulrahman Theyab Bayan H. Alanati Suliman A. Alsagaby Munifa K. Alenazi Mohammed I. Khan Yousef M. Hawsawi |
| author_sort | Nahed N. Mahrous |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-03-10T21:24:29Z |
| format | Article |
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| institution | Directory Open Access Journal |
| issn | 2227-9059 |
| language | English |
| last_indexed | 2024-03-10T21:24:29Z |
| publishDate | 2023-10-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Biomedicines |
| spelling | doaj.art-67569b7fa2af4048b4c9c6fe610191e62023-11-19T15:46:44ZengMDPI AGBiomedicines2227-90592023-10-011110276210.3390/biomedicines11102762A Current Landscape on Alport Syndrome Cases: Characterization, Therapy and Management PerspectivesNahed N. Mahrous0Yahya F. Jamous1Ahmad M. Almatrafi2Deema I. Fallatah3Abdulrahman Theyab4Bayan H. Alanati5Suliman A. Alsagaby6Munifa K. Alenazi7Mohammed I. Khan8Yousef M. Hawsawi9Department of Biological Sciences, College of Science, University of Hafr Al-Batin, Hafr Al-Batin 39524, Saudi ArabiaThe National Center of Vaccines and Bioprocessing, King Abdulaziz City for Science and Technology, Riyadh 12354, Saudi ArabiaDepartment of Biological Sciences, College of Science, Taibah University, Madinah 42353, Saudi ArabiaDepartment of Medical Laboratory Sciences, College of Applied Medical Sciences, Prince Sattam Bin Abdulaziz University, Al-Kharj 11942, Saudi ArabiaDepartment of Laboratory and Blood Bank, Security Forces Hospital, Makkah 11481, Saudi ArabiaCenter for Synthetic Microbiology, Bioinformatics Core Facility, University of Marburg, 35032 Marburg, GermanyDepartment of Medicinal Laboratory Sciences, College of Applied Medical Sciences, Majmaah University, Al-Majmaah 11952, Saudi ArabiaResearch Center, King Faisal Specialist Hospital and Research Center, P.O. Box 40047, Jeddah 21499, Saudi ArabiaResearch Center, King Faisal Specialist Hospital and Research Center, P.O. Box 40047, Jeddah 21499, Saudi ArabiaDepartment of Biochemistry & Molecular Medicine, College of Medicine, Al-Faisal University, P.O. Box 50927, Riyadh 11533, Saudi ArabiaAlport 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.https://www.mdpi.com/2227-9059/11/10/2762Alport syndrometype IV collagenglomerular basement membranekidney diseasegene technology |
| spellingShingle | Nahed N. Mahrous Yahya F. Jamous Ahmad M. Almatrafi Deema I. Fallatah Abdulrahman Theyab Bayan H. Alanati Suliman A. Alsagaby Munifa K. Alenazi Mohammed I. Khan Yousef M. Hawsawi A Current Landscape on Alport Syndrome Cases: Characterization, Therapy and Management Perspectives Biomedicines Alport syndrome type IV collagen glomerular basement membrane kidney disease gene technology |
| title | A Current Landscape on Alport Syndrome Cases: Characterization, Therapy and Management Perspectives |
| title_full | A Current Landscape on Alport Syndrome Cases: Characterization, Therapy and Management Perspectives |
| title_fullStr | A Current Landscape on Alport Syndrome Cases: Characterization, Therapy and Management Perspectives |
| title_full_unstemmed | A Current Landscape on Alport Syndrome Cases: Characterization, Therapy and Management Perspectives |
| title_short | A Current Landscape on Alport Syndrome Cases: Characterization, Therapy and Management Perspectives |
| title_sort | current landscape on alport syndrome cases characterization therapy and management perspectives |
| topic | Alport syndrome type IV collagen glomerular basement membrane kidney disease gene technology |
| url | https://www.mdpi.com/2227-9059/11/10/2762 |
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