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Review
. 2023 Oct 16;15(10):e47129.
doi: 10.7759/cureus.47129. eCollection 2023 Oct.

Alport Syndrome: A Comprehensive Review

Avanti Adone  1 , Ashish Anjankar  2
Affiliations
Review

Alport Syndrome: A Comprehensive Review

Avanti Adone et al. Cureus. .

Abstract

Alport syndrome is an genetic disorder that distresses the basement membrane of the kidneys and can also impact other organs, such as the cochlea of the inner ear and eyes. It is characterized by mutation causing abnormalities in the collagen within the basement membrane, which has a crucial role in the filtration process of the kidneys. These abnormalities lead to progressive kidney damage and often result in chronic kidney disease. In some cases of Alport syndrome, the abnormal collagen can also affect the cochlea in the inner ear, leading to sensorineural hearing loss. Additionally, changes in the ocular lens, named anterior lenticonus, can occur, causing vision problems. Alport syndrome can manifest differently among individuals, and its severity can vary. Some people may experience mild symptoms, while others may develop more severe kidney problems, including end-stage renal disease, which may need dialysis or kidney transplant. Treatment for Alport syndrome primarily focuses on managing its symptoms and complications. Regular monitoring of kidney function and blood pressure, along with medications to control hypertension, are crucial aspects of the management plan. In cases of severe kidney damage, kidney transplantation may be necessary. As with any medical condition, early detection and intervention can improve results and quality of life for persons with Alport syndrome. Therefore, if there is a family history of the disorder or any concerning symptoms, it is essential to seek medical attention promptly. Genetic testing can help confirm the diagnosis and identify affected family members, allowing for appropriate monitoring and management.

Keywords: alport syndrome; anterior lenticonus; end stage renal disease (esrd); sensorineural (sn) hearing loss; type iv collagen; x linked recessive.

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Conflict of interest statement

The authors have declared that no competing interests exist.

Figures

Figure 1
Figure 1. PRISMA flow diagram
PRISMA: Preferred Reporting Items for Systematic Reviews and Meta-Analyses
Figure 2
Figure 2. Clinical manifestations of Alport Syndrome
Image Credit: Author
See this image and copyright information in PMC

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