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Extracellular Matrix: Alport Syndrome.

Stephen H Tsang^1,2, Tarun Sharma³

¹Jonas Children's Vision Care, Bernard & Shirlee Brown Glaucoma Laboratory, Columbia Stem Cell Initiative-Departments of Ophthalmology, Biomedical Engineering, Pathology & Cell Biology, Institute of Human Nutrition, Vagelos College of Physicians and Surgeons, Columbia University, New York, NY, USA.

Advances in Experimental Medicine and Biology

|December 23, 2018

Summary

Alport syndrome, an X-linked genetic disorder, affects 1 in 50,000 newborns. It causes progressive kidney disease, kidney failure by age 50, and hearing loss.

Keywords:

Alport syndrome Extracellular matrix

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Area of Science:

Nephrology
Genetics
Otolaryngology

Background:

Alport syndrome is a genetic kidney disease.
It is inherited in an X-linked pattern.
Affects approximately 1 in 50,000 live births.

Purpose of the Study:

To describe the clinical presentation of Alport syndrome.
To highlight key systemic features.
To emphasize the progressive nature of the disease.

Main Methods:

This is a descriptive summary of patient presentations.
No specific experimental methods were detailed in the abstract.

Main Results:

Patients exhibit X-linked inheritance patterns.
Progressive interstitial nephritis is a hallmark.
Renal failure typically occurs by the fifth decade.
Neurosensory deafness is a common systemic feature.

Conclusions:

Alport syndrome is a significant genetic disorder with severe renal and auditory manifestations.
Early recognition of these systemic features is crucial for patient management.