Alport's Syndrome
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Introduction
Alport's syndrome is usually X-linked, therefore affecting mainly males. Both autosomal dominant and autosomal recessive patterns of inheritance have been described.
The Case of...
a simple case introducing clincial presentation and calling for a differential diagnosis to get students thinking.
Causes and Risk Factors
Pathophysiology
An abnormality in collagen IV, found in the basement membranes, is found in all patients, who also lack Goodpasture's antigen.
Signs and Symptoms
- history
- physical exam
History
Physical Exam
Ocular abnormalities, including lens dislocation, cataract, and conical cornea can all occur. Sensorineural deafness is also possible.
Investigations
- lab investigations
- diagnostic imaging
Lab Investigations
Glomerulonephritis leads to hematuria. Platelet dysfunction and hyperproteinemia can also occur.
Diagnostic Imaging
Differential Diagnosis
Treatments
Consequences and Course
Resources and References
Topic Development
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