ALPORT SYNDROME: NEW APPROACHES TO THE DIAGNOSIS AND TREATMENT OF MULTISYSTEM DISEASE ( LITERATURE REVIEW )

Alport syndrome is a genetically determined multisystem disease that affects the kidneys, hearing, and vision. It is characterized by significant clinical variability, depending on the type of genetic mutation, the form of heredity and the patient's gender. Thanks to modern advances in genetic diagnostics, it has become possible not only to confirm the diagnosis at the molecular level, but also to implement individualized treatment approaches. Early detection of the disease, regular monitoring of kidney function, hearing and vision, and timely hearing correction can significantly improve the quality of life of patients and slow down the progression of the disease.

Publication Details

Journal
Zenodo (CERN European Organization for Nuclear Research)
Published
2025-04-30
DOI
https://doi.org/10.5281/zenodo.15331998
Primary Topic
Physics of Superconductivity and Magnetism
Type
article
Field-Weighted Citation Impact
0.00
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article

ALPORT SYNDROME: NEW APPROACHES TO THE DIAGNOSIS AND TREATMENT OF MULTISYSTEM DISEASE ( LITERATURE REVIEW )

Zenodo (CERN European Organization for Nuclear Research)
Physics of Superconductivity and Magnetism
article

ALPORT SYNDROME: NEW APPROACHES TO THE DIAGNOSIS AND TREATMENT OF MULTISYSTEM DISEASE ( LITERATURE REVIEW )

article en

Abstract

Alport syndrome is a genetically determined multisystem disease that affects the kidneys, hearing, and vision. It is characterized by significant clinical variability, depending on the type of genetic mutation, the form of heredity and the patient's gender. Thanks to modern advances in genetic diagnostics, it has become possible not only to confirm the diagnosis at the molecular level, but also to implement individualized treatment approaches. Early detection of the disease, regular monitoring of kidney function, hearing and vision, and timely hearing correction can significantly improve the quality of life of patients and slow down the progression of the disease.

Zenodo (CERN European Organization for Nuclear Research)
Openalex Percentile: Top 70%
Physics of Superconductivity and Magnetism
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ALPORT SYNDROME: NEW APPROACHES TO THE DIAGNOSIS AND TREATMENT OF MULTISYSTEM DISEASE ( LITERATURE REVIEW ) · Zenodo (CERN European Organization for Nuclear Research) (2025) | TGRS Research Map | TGRS