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Table 1 Possible reasons for genetic testing of ADTKD

From: Prevalence of inherited changes of uric acid levels in kidney dysfunction including stage 5 D and T: a systematic review

I

Adults with CKD suspected to have ADTKD who wish to confirm the diagnosis

II

Members of affected families with normal kidney function who wish to donate a kidney

III

Healthy adult individuals at risk who are interested in establishing a genetic diagnosis

IV

Adults interested in undergoing preimplantation genetic diagnosis to avoid their childʼs inheritance of a disease-causing mutant allele

V

Children suspected of having a REN mutation

  1. ADTKD autosomal-dominant tubulointerstitial kidney disease, CKD chronic kidney disease
  2. Adapted from Eckardt et al, KI 2015