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Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis

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Alport Syndrome.

Efren Chavez¹, Stefania Goncalves², Michelle N Rheault³

¹Katz Family Division of Nephrology and Hypertension, Department of Medicine, University of Miami Miller School of Medicine, Miami, FL.

Advances in Kidney Disease and Health

|July 14, 2024

Summary

Alport spectrum disorder, caused by COL4A3-5 gene variants, is a leading genetic kidney disease. This review details its varied clinical course, diagnosis, and treatments for kidney failure, hearing loss, and eye issues.

Keywords:

Alport Chronic kidney disease Hematuria Hereditary nephritis Type IV collagen

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Published on: April 24, 2017

Area of Science:

Nephrology
Genetics
Ophthalmology
Audiology

Background:

Alport syndrome (AS) involves kidney failure, hearing loss, and eye abnormalities.
It stems from defective collagen IV deposition due to COL4A3-5 gene variants.
The "Alport spectrum disorder" encompasses diverse genetic mutations and inheritance patterns.

Purpose of the Study:

To provide a comprehensive review of Alport spectrum disorder.
To discuss epidemiology, classification, pathogenesis, and diagnosis.
To explore genotype-phenotype correlations, clinical course, and treatment strategies.

Main Methods:

Literature review of Alport syndrome.
Analysis of genetic variants in COL4A3-5 genes.
Correlation of clinical manifestations with genetic factors.

Main Results:

AS is a common cause of genetic kidney disease and failure.
Clinical presentation and prognosis vary widely based on genetic factors.
Understanding genotype-phenotype correlations is crucial for management.

Conclusions:

Alport spectrum disorder requires a multidisciplinary approach for diagnosis and management.
Current and emerging treatments aim to improve outcomes for affected individuals.
Regular screening for hearing and vision abnormalities is recommended.