Nephrology

Practical guidance for ordering and interpreting nephrology genetic tests.

This review provides ten practical tips to help nephrologists integrate genetic testing into routine care. Authors emphasize testing early when a molecular diagnosis could change management and careful phenotyping. They review how to read reports, spot technical blind spots (eg, copy number variants), and classify results as diagnostic, suggestive, or uninformative. Variants of uncertain significance should be treated as hypotheses, with periodic reanalysis and multidisciplinary pathways encouraged. 1

Earlier urate-lowering therapy linked to modest long-term reductions in ESKD and mortality in CKD.

Using two Korean CKD cohorts (n = 27,260 and 9,727) and the parametric g-formula, investigators simulated 22-year outcomes under different ULT initiation thresholds. Initiation at sUA 7–8 mg/dL versus higher thresholds was associated with lower 22-year mortality (absolute risk reductions around -0.37% to -0.76%p) and reduced ESKD risk (up to -1.23%p). Effects were dose-dependent with greater harm when deferring treatment beyond 9 mg/dL. As an observational g-formula analysis, findings are hypothesis-generating and subject to modeling assumptions and unmeasured confounding. 2

ESRD-DRS: a dynamic EHR-based score that updates ESRD risk after diabetes.

The ESRD-DRS uses landmark Fine-Gray models to update 1-, 5-, and 10-year ESRD risk after diabetes diagnosis. In VHA and All of Us cohorts, discrimination was high (AUROC up to 0.93 at 1 year) and calibration was good, outperforming RECODe and KFRE. Top predictors were eGFR, albuminuria, systolic blood pressure, and age. Embedding ESRD-DRS into EHR workflows may enable timely, individualized risk reassessment as clinical status evolves. 3