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PubMed This is a summary of 19 peer-reviewed journal articles Updated
Nephrology · Autosomal Dominant Tubulointerstitial Kidney Disease Due to UMOD

Managing CKD and Planning for Transplantation

At a Glance

ADTKD-UMOD is managed with supportive chronic kidney disease care and advance transplant planning. A kidney transplant usually works well and the disease does not return in the donor kidney, but related living donors must have specific UMOD genetic testing.

Managing the kidney disease associated with ADTKD-UMOD is a long-term process. Because the disease progresses slowly over decades, the goal of treatment is to protect your remaining kidney function for as long as possible and to prepare for the future with the best available options [1].

The Search for Targeted Therapy

Currently, there are no approved disease-specific or “targeted” therapies that can fix the underlying UMOD protein-misfolding problem [2][3]. While scientists are researching ways to help cells clear out the “misfolded” protein clutter—using techniques like autophagy (the cell’s recycling system) or targeting proteins like TMED9—these treatments are still in the preliminary research or animal-testing stages and are not yet established care for patients [4][5].

Standard Chronic Kidney Disease (CKD) Care

Since no targeted drug exists yet, your medical team will use standard CKD management strategies to support your kidneys. This “supportive care” is highly effective at reducing the workload on your kidneys and preventing additional damage [2].

  • Blood Pressure Control: High blood pressure (hypertension) can put extra strain on the kidney’s delicate structures. Medications like ACE inhibitors or ARBs are often used to help reach target blood pressures. However, they are prescribed based on your individual hypertension, albuminuria, diabetes, and cardiovascular status, not as a universal, disease-modifying treatment for ADTKD [6][7]. Your doctor will monitor your creatinine and potassium when using them.
  • Other Medications: SGLT2 inhibitors are increasingly used in CKD, but their specific benefit in ADTKD-UMOD is unproven. Their use depends on other indications, kidney function, volume status, and adverse-effect risks [8].
  • Avoiding Nephrotoxins: You should be extremely cautious with medications that can be toxic to the kidneys (nephrotoxins). This includes common over-the-counter pain relievers called NSAIDs (like ibuprofen, naproxen, and high-dose aspirin) [9].
  • Diet and Lifestyle: A healthy weight, regular exercise, and a diet that is not too high in salt or protein can help manage the metabolic changes that come with kidney disease [10].
  • Monitoring: Regular blood tests to check your eGFR (estimated Glomerular Filtration Rate) and urine tests to check for protein or other markers will help your doctor track how quickly the disease is progressing [11][12].

Kidney Transplantation: A Highly Effective Option

If your kidney function eventually declines to the point of failure (End-Stage Renal Disease), kidney transplantation is considered an effective kidney-replacement option [3]. Evaluation is generally started before kidney failure—often when eGFR approaches about 20 mL/min/1.73 m²—to allow for preemptive transplantation and living-donor work-up.

  • Excellent Outcomes: Patients with ADTKD-UMOD generally do very well after a transplant. Studies show that their long-term health and the survival of the new kidney do not differ significantly from patients with other types of kidney disease [13].
  • No Recurrence: One of the most encouraging facts about ADTKD-UMOD is that the disease does not recur in the new kidney [13]. Because the problem is caused by a genetic mutation in your native kidney cells, the new donor kidney (which has its own healthy UMOD genes) will not develop the “protein-clutter” problem [13][14].

The Critical Importance of Genetic Testing for Donors

If you are considering a living related donor (a family member who wants to give you a kidney), extra caution is required. Because ADTKD-UMOD is an autosomal dominant condition, there is a 50% risk in the appropriate familial context that any first-degree relative (parent, sibling, or child) also has the mutation [15].

Crucial Warning: It is absolutely essential that any biologically related potential donor undergoes genetic testing for your specific UMOD mutation before being cleared to donate [14].

  • Hidden Disease: ADTKD-UMOD is often “silent.” A family member might have normal blood pressure, a normal ultrasound, and no history of gout, yet still carry the mutation [14][1].
  • Donation Risks: A mutation carrier should not donate because of the inherited kidney risk to themselves if they are left with only one kidney [16][14].
  • Verify the Result: A negative familial-variant test never replaces the transplant center’s full donor evaluation to ensure a donor is otherwise healthy [17][18].

If a related donor is confirmed to not carry the mutation, they can proceed with the standard donor evaluation process just like any other healthy volunteer [19].

Common questions in this guide

Are there targeted medicines that treat the cause of ADTKD-UMOD?
No approved disease-specific medicine currently corrects the UMOD protein problem in ADTKD-UMOD. Research on ways to help cells clear misfolded protein is ongoing, so treatment currently focuses on standard CKD care and protecting remaining kidney function.
What can I do to protect my kidney function with ADTKD-UMOD?
Your care team may focus on controlling high blood pressure when present, checking kidney function and urine regularly, avoiding kidney-toxic medicines such as NSAID pain relievers, and maintaining a healthy weight, exercise routine, and kidney-friendly diet. ACE inhibitors, ARBs, or other medicines are chosen according to your overall health rather than automatically for everyone with ADTKD-UMOD.
When should I start planning for a kidney transplant?
Transplant evaluation is usually started before kidney failure, often when the estimated glomerular filtration rate (eGFR) is approaching about 20 mL/min/1.73 m². The timing depends on your rate of kidney function loss, overall health, and whether a living donor may be available.
Can ADTKD-UMOD come back after a kidney transplant?
ADTKD-UMOD generally does not recur in the transplanted kidney. The donor kidney has its own healthy UMOD genes, so it does not develop the inherited protein buildup that affects the original kidneys.
Can a family member with ADTKD-UMOD donate a kidney to me?
A biological relative should have targeted testing for the known family UMOD variant before being considered as a living donor. A person who carries the variant should not donate because the inherited kidney risk could be harmful with only one kidney, and every donor still needs a complete transplant-center evaluation.
Are SGLT2 inhibitors recommended for ADTKD-UMOD?
The specific benefit of SGLT2 inhibitors in ADTKD-UMOD has not been established. A clinician may consider one for another approved reason after reviewing kidney function, fluid status, and possible side effects.

Questions to Ask Your Doctor

Curated prompts to bring to your next appointment.

  1. 1.Given that there are no targeted therapies for ADTKD-UMOD, what is our specific plan for monitoring my eGFR slope and timing my transplant referral?
  2. 2.If a family member wants to be my donor, can you refer them to a genetics specialist to ensure they are tested specifically for my UMOD mutation?
  3. 3.Should I be taking an SGLT2 inhibitor for its general kidney-protective benefits, even if it hasn't been proven to work specifically for ADTKD-UMOD?
  4. 4.Are there any active clinical trials or registries for ADTKD-UMOD that I could join to help advance research into targeted treatments?
  5. 5.At what eGFR level do you typically recommend starting the evaluation for a preemptive kidney transplant?

Questions For You

Tap a prompt to share your answer — we'll use it plus this page's context to start a tailored conversation.

References

References (19)
  1. 1

    Genetic and Clinical Predictors of Age of ESKD in Individuals With Autosomal Dominant Tubulointerstitial Kidney Disease Due to UMOD Mutations.

    Kidd K, Vylet'al P, Schaeffer C, et al.

    Kidney international reports 2020; (5(9)):1472-1485 doi:10.1016/j.ekir.2020.06.029.

    PMID: 32954071
  2. 2

    UMOD and you! Explaining a rare disease diagnosis.

    Mabillard H, Olinger E, Sayer JA

    Journal of rare diseases (Berlin, Germany) 2022; (1(1)):4 doi:10.1007/s44162-022-00005-4.

    PMID: 36569465
  3. 3

    Autosomal Dominant Tubulointerstitial Kidney Disease Clinical Trial Simulator: Case Reports of Model-Informed Drug Development.

    Ramesh SS, Rogge M, Kim J, et al.

    CPT: pharmacometrics & systems pharmacology 2026; (15(5)):e70258 doi:10.1002/psp4.70258.

    PMID: 42062819
  4. 4

    Disrupted uromodulin trafficking is rescued by targeting TMED cargo receptors.

    Bazua-Valenti S, Brown MR, Zavras J, et al.

    The Journal of clinical investigation 2024; (134(24)).

    PMID: 39680459
  5. 5

    MANF Clears Mutant Uromodulin in Human Kidney Organoids of Autosomal Dominant Tubulointerstitial Kidney Disease.

    Gu C, Fang Y, Wang Y, et al.

    bioRxiv : the preprint server for biology 2026; doi:10.64898/2026.03.02.708095.

    PMID: 41867867
  6. 6

    Familial juvenile hyperuricemic nephropathy: Revisiting the SLC8A1 gene, in a family with a novel terminal gross deletion in the UMOD gene.

    Gonçalves F, Lisboa-Gonçalves P, Quental R, et al.

    Nefrologia 2024; (44(4)):576-581 doi:10.1016/j.nefroe.2024.08.002.

    PMID: 39216982
  7. 7

    Characterization of recurrent UMOD variants (p.C255Y y p.Q316P) in a Galician cohort: genotype-phenotype correlation and clinical implications.

    Sánchez-Cazorla E, Temes-Álvarez B, Oliveros-Martínez P, et al.

    Nefrologia 2025; (45(5)):369-380 doi:10.1016/j.nefroe.2025.04.007.

    PMID: 40300987
  8. 8

    An Observational Study of SGLT2 Inhibitors and Their Use in Autosomal Dominant Tubulointerstitial Kidney Disease.

    Kidd KO, Williams AH, Elhassan EAE, et al.

    Research square 2025; doi:10.21203/rs.3.rs-7482366/v1.

    PMID: 41041531
  9. 9

    Management of Gout and Hyperuricemia in CKD.

    Vargas-Santos AB, Neogi T

    American journal of kidney diseases : the official journal of the National Kidney Foundation 2017; (70(3)):422-439 doi:10.1053/j.ajkd.2017.01.055.

    PMID: 28456346
  10. 10

    Calorie Restriction Leads to Degradation of Mutant Uromodulin and Ameliorates Inflammation and Fibrosis in UMOD -Related Kidney Disease.

    Cratere MG, Perrone B, Canciani B, et al.

    Journal of the American Society of Nephrology : JASN 2026; (37(8)):1704-1719 doi:10.1681/ASN.0000001032.

    PMID: 41632531
  11. 11

    Two sides of the same coin: a complex presentation of autosomal dominant tubulointerstitial kidney diseases: a literature review and case reports.

    Fistrek Prlic M, Huljev Frkovic S, Beck B, et al.

    Frontiers in pediatrics 2023; (11()):1283325 doi:10.3389/fped.2023.1283325.

    PMID: 38027261
  12. 12

    Ultrabright plasmonic fluor nanolabel-enabled detection of a urinary ER stress biomarker in autosomal dominant tubulointerstitial kidney disease.

    Kim Y, Wang Z, Li C, et al.

    American journal of physiology. Renal physiology 2021; (321(2)):F236-F244 doi:10.1152/ajprenal.00231.2021.

    PMID: 34251273
  13. 13

    Renal transplant outcomes in patients with autosomal dominant tubulointerstitial kidney disease.

    Cormican S, Kennedy C, Connaughton DM, et al.

    Clinical transplantation 2020; (34(2)):e13783 doi:10.1111/ctr.13783.

    PMID: 31958169
  14. 14

    Identification of a novel UMOD mutation (c.163G>A) in a Brazilian family with autosomal dominant tubulointerstitial kidney disease.

    Lopes LB, Abreu CC, Souza CF, et al.

    Brazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologica 2018; (51(3)):e6560 doi:10.1590/1414-431X20176560.

    PMID: 29513881
  15. 15

    Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management--A KDIGO consensus report.

    Eckardt KU, Alper SL, Antignac C, et al.

    Kidney international 2015; (88(4)):676-83 doi:10.1038/ki.2015.28.

    PMID: 25738250
  16. 16

    Is It Time to Utilize Genetic Testing for Living Kidney Donor Evaluation?

    Tantisattamo E, Reddy UG, Ichii H, et al.

    Nephron 2022; (146(2)):220-226 doi:10.1159/000520150.

    PMID: 34883493
  17. 17

    Genetic evaluation of living kidney donor candidates: A review and recommendations for best practices.

    Thomas CP, Daloul R, Lentine KL, et al.

    American journal of transplantation : official journal of the American Society of Transplantation and the American Society of Transplant Surgeons 2023; (23(5)):597-607 doi:10.1016/j.ajt.2023.02.020.

    PMID: 36868514
  18. 18

    A Partial UMOD Deletion Results in Altered Uromodulin Synthesis and Autosomal-Dominant Tubulointerstitial Kidney Disease-Uromodulin.

    Fagnoul S, Ghisdal L, Marangoni M, et al.

    Kidney medicine 2026; (8(4)):101265 doi:10.1016/j.xkme.2026.101265.

    PMID: 41798828
  19. 19

    Discovery of a novel dominant mutation in the REN gene after forty years of renal disease: a case report.

    Clissold RL, Clarke HC, Spasic-Boskovic O, et al.

    BMC nephrology 2017; (18(1)):234 doi:10.1186/s12882-017-0631-5.

    PMID: 28701203

This page is for informational purposes only and does not constitute medical advice. Your nephrologist, transplant team, and genetics professional should tailor CKD care, transplant planning, and donor testing to your situation.

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