Do you pursue genetic testing in a patient with unexplained CKD whose kidney biopsy shows nonspecific tubulointerstitial nephritis without an identifiable toxic, inflammatory, or systemic cause?
Do you pursue genetic testing in a patient with unexplained CKD whose kidney biopsy shows nonspecific tubulointerstitial nephritis without an identifiable toxic, inflammatory, or systemic cause?
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Yes. I have seen some interesting diagnoses such as ADTKD. Genetic testing is simple, non-invasive, and relatively inexpensive. I am all for doing more of it.
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I generally do; I see little downside and have found some surprises, eg one patient had both 2 high risk APOL-1 genotypes and a COL4A3 mutation. I am also ordering it on non-nephrotic FSGS, also finding several COL4A # -4 mutations.
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Yes. Genetic testing is indicated in a patient with unexplained CKD whose kidney biopsy shows nonspecific tubulointerstitial nephritis without an identifiable toxic, inflammatory, or systemic cause. If the patient has hyperuricemia and early-onset gout, a mutation in the UMOD gene encoding uromoduli...
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I discuss pros and cons with the patient. Generally, not much upside, but willing to refer if the patient is interested.
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