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Is there a role for a kidney biopsy in patients diagnosed with Fabry disease through genetic testing?

2 Answers
Mednet Member
Mednet Member
Nephrology · UAB
Answered on

Is there a role for kidney biopsy in patients diagnosed with Fabry disease through genetic testing is not straightforward. However, there is utility most of the time if you are asking:

  1. Should you start therapy?
  2. When should you start therapy?
  3. Could it be something other than Fabry?

If the patient ...

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Mednet Member
Mednet MemberInvited Expert
Nephrology · Rush Medical College
Answered on

I couldn't think of one. Then, I googled it and found this:

Kim et al., PMID 34922431

I think the question is better answered by someone who has a Fabry clinic and a lot of experience with enzyme replacement therapy.

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