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Dr. Andrew Rynne
MD
Dr. Andrew Rynne

Family Physician

Exp 50 years

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How Is Alport Syndrome Diagnosed?

I have been having abdominal pain and nausea for 6 to 12 months. I was tested and I have blood and protein in my urine. My mother has tested positive for Alport Syndome but when I asked my doctor about it he was not familiar with the syndrome. How can I get tested for it
Thu, 3 Aug 2017
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Nephrologist 's  Response
Dear Patient,

Alport disease may be diagnosed in two ways: 1) renal biopsy, with adequate IF for alpha 3 and alpha 5 subunits of collagen type 4 and electron microscope; 2) genetic analysis; 3) skin biopsy. However, you are very likely to have alport's. As Center policy, we perform renal biopsy in patients like you since numerous disease may be associated withAlport, as IgAN, that may increase the progression to renal failure. Let me know.
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How Is Alport Syndrome Diagnosed?

Dear Patient, Alport disease may be diagnosed in two ways: 1) renal biopsy, with adequate IF for alpha 3 and alpha 5 subunits of collagen type 4 and electron microscope; 2) genetic analysis; 3) skin biopsy. However, you are very likely to have alport s. As Center policy, we perform renal biopsy in patients like you since numerous disease may be associated withAlport, as IgAN, that may increase the progression to renal failure. Let me know.