Research & Literature

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.

Autosomal dominant tubulointerstitial kidney disease caused by uromodulin mutations: seek and you will find.

Raffler G, Zitt E, Sprenger-Mähr H, et al.

Wiener klinische Wochenschrift 2016; (128(7-8)):291-4 doi:10.1007/s00508-015-0948-7.

From juvenile hyperuricaemia to dysfunctional uromodulin: an ongoing metamorphosis.

Venkat-Raman G, Gast C, Marinaki A, Fairbanks L

Pediatric nephrology (Berlin, Germany) 2016; (31(11)):2035-42 doi:10.1007/s00467-015-3308-y.

A novel heterozygous missense mutation in uromodulin gene in an Indian family with familial juvenile hyperuricemic nephropathy.

Saxena D, Srivastava P, Phadke SR

Indian journal of nephrology 2016; (26(5)):364-367 doi:10.4103/0971-4065.167277.

Mitochondrial Dysregulation Secondary to Endoplasmic Reticulum Stress in Autosomal Dominant Tubulointerstitial Kidney Disease - UMOD (ADTKD-UMOD).

Kemter E, Fröhlich T, Arnold GJ, et al.

Scientific reports 2017; (7()):42970 doi:10.1038/srep42970.

Autosomal Dominant Tubulointerstitial Kidney Disease.

Bleyer AJ, Kidd K, Živná M, Kmoch S

Advances in chronic kidney disease 2017; (24(2)):86-93 doi:10.1053/j.ackd.2016.11.012.

Mutant uromodulin expression leads to altered homeostasis of the endoplasmic reticulum and activates the unfolded protein response.

Schaeffer C, Merella S, Pasqualetto E, et al.

PloS one 2017; (12(4)):e0175970 doi:10.1371/journal.pone.0175970.

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.

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.

Early involvement of cellular stress and inflammatory signals in the pathogenesis of tubulointerstitial kidney disease due to UMOD mutations.

Trudu M, Schaeffer C, Riba M, et al.

Scientific reports 2017; (7(1)):7383 doi:10.1038/s41598-017-07804-6.

Uromodulin p.Cys147Trp mutation drives kidney disease by activating ER stress and apoptosis.

Johnson BG, Dang LT, Marsh G, et al.

The Journal of clinical investigation 2017; (127(11)):3954-3969.

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.

Autosomal Dominant Tubulointerstitial Kidney Disease: Clinical Presentation of Patients With ADTKD-UMOD and ADTKD-MUC1.

Ayasreh N, Bullich G, Miquel R, et al.

American journal of kidney diseases : the official journal of the National Kidney Foundation 2018; (72(3)):411-418 doi:10.1053/j.ajkd.2018.03.019.

Febuxostat for the treatment of hyperuricaemia in gout.

Robinson PC, Dalbeth N

Expert opinion on pharmacotherapy 2018; (19(11)):1289-1299 doi:10.1080/14656566.2018.1498842.

Autosomal dominant tubulointerstitial kidney disease-UMOD is the most frequent non polycystic genetic kidney disease.

Gast C, Marinaki A, Arenas-Hernandez M, et al.

BMC nephrology 2018; (19(1)):301 doi:10.1186/s12882-018-1107-y.

Autosomal Dominant Tubulointerstitial Kidney Disease Due to UMOD Mutation: A Two-Case Report and Literature Review.

Liang D, Liang S, Zhang M, et al.

Nephron 2019; (143(4)):282-287 doi:10.1159/000502146.

Autosomal dominant tubulointerstitial kidney disease (ADTKD) in Ireland.

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

Renal failure 2019; (41(1)):832-841 doi:10.1080/0886022X.2019.1655452.

Chronic Kidney Disease Diagnosis and Management: A Review.

Chen TK, Knicely DH, Grams ME

JAMA 2019; (322(13)):1294-1304 doi:10.1001/jama.2019.14745.

Quality of life in patients with autosomal dominant tubulointerstitial kidney disease
.

Bleyer AJ, Kidd K, Johnson E, et al.

Clinical nephrology 2019; (92(6)):302-311 doi:10.5414/CN109842.

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.

2020 American College of Rheumatology Guideline for the Management of Gout.

FitzGerald JD, Dalbeth N, Mikuls T, et al.

Arthritis care & research 2020; (72(6)):744-760 doi:10.1002/acr.24180.

Clinical and genetic spectra of autosomal dominant tubulointerstitial kidney disease due to mutations in UMOD and MUC1.

Olinger E, Hofmann P, Kidd K, et al.

Kidney international 2020; (98(3)):717-731 doi:10.1016/j.kint.2020.04.038.

An international cohort study of autosomal dominant tubulointerstitial kidney disease due to REN mutations identifies distinct clinical subtypes.

Živná M, Kidd K, Zaidan M, et al.

Kidney international 2020; (98(6)):1589-1604 doi:10.1016/j.kint.2020.06.041.

A novel likely pathogenic variant in the UMOD gene in a family with autosomal dominant tubulointerstitial kidney disease: a case report.

Wang Y, Liu H, He Q, et al.

BMC nephrology 2020; (21(1)):368 doi:10.1186/s12882-020-02022-1.

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.

Variable Expressivity of HNF1B Nephropathy, From Renal Cysts and Diabetes to Medullary Sponge Kidney Through Tubulo-interstitial Kidney Disease.

Izzi C, Dordoni C, Econimo L, et al.

Kidney international reports 2020; (5(12)):2341-2350 doi:10.1016/j.ekir.2020.09.042.

The dirty little secret of urate-lowering therapy: useless to stop chronic kidney disease progression and may increase mortality.

Gonzalez-Martin G, Cano J, Carriazo S, et al.

Clinical kidney journal 2020; (13(6)):936-947 doi:10.1093/ckj/sfaa236.

Significance of kidney biopsy in autosomal dominant tubulointerstitial kidney disease-UMOD: is kidney biopsy truly nonspecific?

Onoe T, Hara S, Yamada K, et al.

BMC nephrology 2021; (22(1)):1 doi:10.1186/s12882-020-02169-x.

Managing hyperuricemia and gout in chronic kidney disease: a clinical conundrum.

Premachandra KH, Day RO, Roberts DM

Current opinion in nephrology and hypertension 2021; (30(2)):245-251 doi:10.1097/MNH.0000000000000691.

Autosomal dominant tubulointerstitial kidney disease genotype and phenotype correlation in a Chinese cohort.

Gong K, Xia M, Wang Y, et al.

Scientific reports 2021; (11(1)):3615 doi:10.1038/s41598-020-79331-w.

Familial juvenile hyperuricemia in early childhood in a boy with a novel gene mutation.

Takemasa Y, Hirano D, Kawakami Y, et al.

CEN case reports 2021; (10(3)):426-430 doi:10.1007/s13730-020-00566-7.

A comprehensive PGT-M strategy for ADPKD patients with de novo PKD1 mutations using affected embryo or gametes as proband.

Wang Y, Zhai F, Guan S, et al.

Journal of assisted reproduction and genetics 2021; (38(9)):2425-2434 doi:10.1007/s10815-021-02188-z.

Autosomal dominant tubulointerstitial kidney disease: more than just HNF1β.

Bleyer AJ, Wolf MT, Kidd KO, et al.

Pediatric nephrology (Berlin, Germany) 2022; (37(5)):933-946 doi:10.1007/s00467-021-05118-4.

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.

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.

Comparative Effectiveness of Allopurinol and Febuxostat in Gout Management.

O'Dell JR, Brophy MT, Pillinger MH, et al.

NEJM evidence 2022; (1(3)) doi:10.1056/evidoa2100028.

An intermediate-effect size variant in UMOD confers risk for chronic kidney disease.

Olinger E, Schaeffer C, Kidd K, et al.

Proceedings of the National Academy of Sciences of the United States of America 2022; (119(33)):e2114734119 doi:10.1073/pnas.2114734119.

Autosomal dominant tubulointerstitial kidney disease: A review.

Živná M, Kidd KO, Barešová V, et al.

American journal of medical genetics. Part C, Seminars in medical genetics 2022; (190(3)):309-324 doi:10.1002/ajmg.c.32008.

Altered Serum Uric Acid Levels in Kidney Disorders.

Kim GH, Jun JB

Life (Basel, Switzerland) 2022; (12(11)) doi:10.3390/life12111891.

Albuminuria testing and nephrology care among insured US adults with chronic kidney disease: a missed opportunity.

Chu CD, Powe NR, Shlipak MG, et al.

BMC primary care 2022; (23(1)):299 doi:10.1186/s12875-022-01910-9.

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.

ADTKD-UMOD in a girl with a de novo mutation: A case report.

Li MS, Li Y, Jiang L, et al.

Frontiers in medicine 2022; (9()):1077655 doi:10.3389/fmed.2022.1077655.

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.

Management of Patients with Gout and Kidney Disease: A Review of Available Therapies and Common Missteps.

Kannuthurai V, Gaffo A

Kidney360 2023; (4(9)):e1332-e1340 doi:10.34067/KID.0000000000000221.

Maternal health and pregnancy outcomes in autosomal dominant tubulointerstitial kidney disease.

Bleyer AJ, Kidd KO, Williams AH, et al.

Obstetric medicine 2023; (16(3)):162-169 doi:10.1177/1753495X221133150.

Allelic effects on uromodulin aggregates drive autosomal dominant tubulointerstitial kidney disease.

Schiano G, Lake J, Mariniello M, et al.

EMBO molecular medicine 2023; (15(12)):e18242 doi:10.15252/emmm.202318242.

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.

Advances in the management of chronic kidney disease.

Chen TK, Hoenig MP, Nitsch D, Grams ME

BMJ (Clinical research ed.) 2023; (383()):e074216 doi:10.1136/bmj-2022-074216.

From Rare Disorders of Kidney Tubules to Acute Renal Injury: Progress and Prospective.

Li J, Hou F, Lv N, et al.

Kidney diseases (Basel, Switzerland) 2024; (10(2)):153-166 doi:10.1159/000536423.

Efficacy and Safety of Allopurinol and Febuxostat in Patients With Gout and CKD: Subgroup Analysis of the STOP Gout Trial.

Helget LN, Davis-Karim A, O'Dell JR, et al.

American journal of kidney diseases : the official journal of the National Kidney Foundation 2024; (84(5)):538-545 doi:10.1053/j.ajkd.2024.04.017.

Autosomal-dominant tubulointerstitial kidney disease with a novel UMOD mutation, overlapping with Sjogren's syndrome: a case report.

Nobayashi H, Iida T, Fujimaru T, et al.

CEN case reports 2025; (14(2)):113-118 doi:10.1007/s13730-024-00915-w.

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.

Intact Parathyroid Hormone (iPTH) Assay: An Early Approach for Bone Health Assessment in Chronic Renal Failure.

Kumari S, Singh PP, Kumar D, et al.

Cureus 2024; (16(10)):e72510 doi:10.7759/cureus.72510.

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)).

Phenotype and genotype of autosomal dominant tubulointerstitial kidney disease in a Japanese cohort.

Tanaka Y, Nagano C, Sakakibara N, et al.

Clinical and experimental nephrology 2025; (29(6)):788-796 doi:10.1007/s10157-025-02629-4.

Hypertensive Emergency In UMOD-Related Autosomal Dominant Tubulointerstitial Kidney Disease.

Chaudhry T, Sapru S

The Brown journal of hospital medicine 2022; (1(4)):38580 doi:10.56305/001c.38580.

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.

Initial Suspicion of Autosomal Dominant Polycystic Kidney Disease Resulted in a Diagnosis of Autosomal Dominant Tubulointerstitial Kidney Disease Caused by a UMOD Mutation.

Usui T, Ishibashi S, Hattori A, et al.

Internal medicine (Tokyo, Japan) 2026; (65(1)):156-161 doi:10.2169/internalmedicine.5563-25.

Quantifying clinical and genetic factors influencing rate and severity of autosomal dominant tubulointerstitial kidney disease progression.

Ramesh SS, Rogge M, Kidd KO, et al.

Journal of pharmacokinetics and pharmacodynamics 2025; (52(4)):41.

Genetic analysis of UMOD gene mutation in autosomal dominant tubulointerstitial kidney disease.

Zhang Y, Li N, Lu M, et al.

Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences 2025; (50(4)):724-730 doi:10.11817/j.issn.1672-7347.2025.240135.

Evaluating the Renal Implications of Intensive Versus Standard Blood Pressure Control in Chronic Kidney Disease: A Systematic Review of Randomized Trials.

Lal K, Mohammad A, Tariq MU, et al.

Cureus 2025; (17(8)):e91323 doi:10.7759/cureus.91323.

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.

An unusual presentation of UMOD-associated autosomal dominant tubulointerstitial kidney disease in a pediatric patient.

Murray A, Cramer M

Pediatric nephrology (Berlin, Germany) 2026; (41(3)):687-689 doi:10.1007/s00467-025-07024-5.

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.

Early-onset kidney failure in a girl with autosomal dominant tubulointerstitial kidney disease due to a de novo UMOD variant.

Tomori S, Miura K, Shirai Y, et al.

CEN case reports 2026; (15(2)):46 doi:10.1007/s13730-025-01081-3.

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.

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.

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.

Season-adaptive blood pressure management in older adults with CKD: a practical review.

Furuto Y, Yoshino D, Ejima I, et al.

Clinical and experimental nephrology 2026; (30(8)):1150-1157 doi:10.1007/s10157-026-02890-1.

Autosomal Dominant Tubulointerstitial Kidney Disease-UMOD: Case Report and Disease Update.

Bonomini M, Vezzani V, Rossini M, et al.

Diagnostics (Basel, Switzerland) 2026; (16(10)) doi:10.3390/diagnostics16101467.