Alport's Syndrome

Alport's syndrome is usually X-linked, therefore affecting mainly males. Both autosomal dominant and autosomal recessive patterns of inheritance have been described.

 

 

Causes and Risk Factors

 

 

 

 

 

 

 

Signs, Symptoms, and Diagnosis

 

  • history
  • physical exam
  • lab investigations
  • diagnostic imaging

History

Physical Exam

Ocular abnormalities, including lens dislocation, cataract, and conical cornea can all occur. Sensorineural deafness is also possible.

Lab Investigations

Glomerulonephritis leads to hematuria. Platelet dysfunction and hyperproteinemia can also occur.

Diagnostic Imaging

 

 

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Pathophysiology

 

 

An abnormality in collagen IV, found in the basement membranes, is found in all patients, who also lack Goodpasture's antigen.

 

 

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Treatments

 

 

 

 

 

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Consequences and Course

 

 

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The Patient

 

 

 

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Health Care Team

 

 

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Community Involvement

 

 

 

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Resources and References