Genetic and Hereditary Kidney Diseases with Disease‑Modifying Therapies: State of the Art, Clinical Evidence, and Perspectives
DOI:
https://doi.org/10.71749/pkj.143Keywords:
Amyloidosis, Familial, Apolipoprotein L1, Atypical Hemolytic Uremic Syndrome, Complement Activation, Fabry Disease, Hyperoxaluria, Primary, Hypophosphatemia, Familial, Kidney Diseases/genetics, Nephritis, Hereditary, Polycystic Kidney Diseases, Precision MedicineAbstract
Genetic and hereditary disorders account for a substantial and increasingly recognized proportion of chronic kidney disease (CKD), particularly in young adults and in children. Over the last decade, the therapeutic landscape has been transformed by disease-modifying therapies (DMTs) — interventions that act on etiopathogenic or core pathophysiological pathways and alter the natural history of disease — moving nephrology from supportive care towards precision medicine.
We aimed to provide a structured, evidence-based narrative review of the genetic and hereditary kidney diseases for which a DMT is currently approved, in advanced clinical development, or in established off-label use; and to summarize the evidence supporting these therapies for the practicing nephrologist.
A predefined narrative-review framework was applied. Eligible conditions were monogenic or strongly heritable disorders with predominant or clinically relevant kidney involvement and at least one DMT approved by EMA or FDA, in phase 2/3 clinical trials, or with established off-label use supported by guidelines. PubMed/MEDLINE was searched (January 2010 – November 2025) and complemented by KDIGO, ERA, ERKNet and NICE guidelines, ClinicalTrials.gov and reference lists of pivotal articles. Reporting follows the principles of PRISMA 2020 adapted to a narrative review. Twelve diseases or disease groups are reviewed under a uniform framework (definition; genetics; renal phenotype; DMT mechanism; clinical evidence; place in therapy). DMTs are classified, after Dietz, into therapies acting on (i) the primary genetic defect, (ii) downstream effector pathways, and (iii) the final common pathway of nephron loss. Approved DMTs include tolvaptan in autosomal dominant polycystic kidney disease, enzyme replacement and myalastat in Fabry disease, C5 inhibitors (eculizumab, ravulizumab) in complement-mediated thrombotic microangiopathy, pegcetacoplan and itpacopan in C3 glomerulopathy, lumasiran and nedosiran in primary hyperoxaluria type 1, RAAS inhibitors and SGLT2 inhibitors in Alport syndrome, cysteamine in cystinosis, transthyretin stabilizers and silencers in hereditary ATRT amyloidosis, and burosumab in X-linked hypophosphatacemic rickets. Inaxaplin (APO lipoprotein 1 (APOL1)-mediated kidney disease) and several complement, ciliopathy and tubulointerstitial agents are in advanced trials. Lifestyle and non-specific renoprotective measures remain the foundation upon which DMTs are added.
Genetic kidney medicine has entered a therapeutic era. Early genetic diagnosis, structured assessment of disease-specific eligibility criteria, and integration of DMTs with evidence-based non-specific renoprotection are now central to nephrology practice.
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This study is a review of previously published articles. No new datasets were generated or analyzed during this work. All data supporting the conclusions of this review are available within the published literature cited in the manuscript.
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