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In which patients do you obtain genetic testing for further evaluation of kidney stone disease?

1 Answer
Mednet MemberInvited Expert
Nephrology · Mayo Clinic
Answered on
  1. First stone as a pre-adolescent, stone complicated by kidney failure, history of growth retardation, family history of stones or nephrocalcinosis or unexplained kidney failure, hearing impairment, ocular crystals
  2. High stone burden on imaging or nephrocalcinosis
  3. Concomitant low molecular weight proteinuria, dihydroxyadenine stone composition, cystine stone composition
  4. Urine oxalate >80mg/24hrs without an enteric risk
  5. Hypercalcemia with low PTH and high 1,25 vitamin D

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