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A Current Landscape on Alport Syndrome Cases: Characterization, Therapy and Management Perspectives
Nahed N Mahrous1, Yahya F Jamous2, Ahmad M Almatrafi3
1Department of Biological Sciences, College of Science, University of Hafr Al-Batin, Hafr Al-Batin 39524, Saudi Arabia.
Biomedicines
|October 28, 2023
Summary
Alport syndrome (AS) is a rare genetic disorder affecting kidneys, hearing, and eyes due to collagen type IV gene mutations. This review updates knowledge on AS genetics, therapies, and management, with a focus on Saudi Arabia.
Area of Science:
- Nephrology
- Genetics
- Ophthalmology
- Audiology
Background:
- Alport syndrome (AS) is a rare genetic disorder characterized by progressive kidney disease, sensorineural hearing loss, and ocular abnormalities.
- It results from mutations in genes encoding type IV collagen alpha chains (COL4A3, COL4A4, COL4A5).
- AS inheritance patterns include X-linked (XLAS, 80%), autosomal recessive (ARAS, 15%), and autosomal dominant (ADAS, 5%).
Purpose of the Study:
- To provide updated knowledge on Alport syndrome's clinical and genetic characteristics.
- To review current therapies that slow disease progression.
- To focus on AS cases in Saudi Arabia, including prevalence, and discuss advances in genetic technologies and early diagnosis.
Main Methods:
- Literature review of Alport syndrome.
- Analysis of clinical and genetic data.
- Discussion of therapeutic strategies and genetic technologies like CRISPR/Cas9.
Main Results:
- Updated overview of Alport syndrome's genetic basis and inheritance patterns.
- Summary of current therapeutic approaches and their limitations.
- Focus on AS prevalence and management considerations in Saudi Arabia.
Conclusions:
- Alport syndrome requires comprehensive management strategies, including early diagnosis and monitoring.
- Genetic technologies offer potential future therapeutic avenues.
- Specific recommendations for disease management in regions with high consanguinity rates, such as Saudi Arabia, are crucial.
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