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.

Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia.

Bolar NA, Golzio C, Živná M, et al.

American journal of human genetics 2016; (99(1)):174-87.

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.

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.

Diagnosis and Long-term Management of Uromodulin Kidney Disease.

Wheeler E, Thomas S

Cureus 2019; (11(3)):e4270 doi:10.7759/cureus.4270.

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.

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.

Phenylbutyrate rescues the transport defect of the Sec61α mutations V67G and T185A for renin.

Sicking M, Živná M, Bhadra P, et al.

Life science alliance 2022; (5(4)) doi:10.26508/lsa.202101150.

Diverse molecular causes of unsolved autosomal dominant tubulointerstitial kidney diseases.

Wopperer FJ, Knaup KX, Stanzick KJ, et al.

Kidney international 2022; (102(2)):405-420 doi:10.1016/j.kint.2022.04.031.

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.

Hypoaldosteronism due to a novel SEC61A1 variant successfully treated with fludrocortisone.

Karpman D, Lindström ML, Möller M, et al.

Clinical kidney journal 2024; (17(8)):sfae213 doi:10.1093/ckj/sfae213.

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.

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.

Optimal patient care in advanced chronic kidney disease progressing to kidney failure.

Combe C, Alencar de Pinho N, Guedes M, et al.

Nature reviews. Nephrology 2026; (22(6)):406-421 doi:10.1038/s41581-026-01056-2.

De novo SEC61A1 mutation in congenital anemia and early-onset kidney disease: Case report and review of the literature.

Zhong L, Ding J, Ma M, et al.

Gene 2026; (993()):150106 doi:10.1016/j.gene.2026.150106.

Rare forms of autosomal dominant tubulointerstitial kidney disease in children: a retrospective case series from Oman.

Al Ghaithi B, Al Hashmi S, Al Alawi I, et al.

Pediatric nephrology (Berlin, Germany) 2026; doi:10.1007/s00467-026-07519-9.