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Article

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

Journal of pharmacokinetics and pharmacodynamics - 24 Jul 2025

Ramesh Shyam S, Rogge Mark, Kidd Kendrah O, Williams Adrienne H, Yoon Deok Yong, Roignot Julie, Blakeslee Katherine, Bleyer Anthony J, Kim Sarah

Abstract excerpt

Autosomal dominant tubulointerstitial kidney disease (ADTKD), caused by mutations in UMOD and MUC1 genes, leads to tubular damage and fibrosis, ultimately resulting in kidney failure (KF). This study investigated clinical and genetic factors influencing the rate and severity of ADTKD progression by developing quantitative models. An estimated glomerular filtration rate (eGFR) of 10 mL/min/1.73 m2 was used to...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 40707830
DOI: 10.1007/s10928-025-09989-0
PMCID: PMC12289749

Genes

UMOD
MUC1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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