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About 143 results

ALLMedicine™ Autosomal Dominant Tubulointerstitial Kidney Disease Center

Research & Reviews  57 results

Ultrabright Plasmonic-Fluor Nanolabel-Enabled Detection of a Urinary ER Stress Biomarke...
https://doi.org/10.1152/ajprenal.00231.2021
American Journal of Physiology. Renal Physiology; Kim Y, Wang Z et. al.

Jul 13th, 2021 - Autosomal dominant tubulointerstitial kidney disease (ADTKD)-uromodulin (UMOD) is the most common non-polycystic genetic kidney disease, but it remains unrecognized due to its clinical heterogeneity and lack of screening test. Moreover, clinical f...

Ultra-rare renal diseases diagnosed with whole-exome sequencing: Utility in diagnosis a...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8254264
BMC Medical Genomics; Jung J, Lee JH et. al.

Jul 5th, 2021 - This study aimed to use whole-exome sequencing (WES) to diagnose ultra-rare renal diseases and the clinical impact of such an approach on patient care. Clinical, radiological, pathological, and genetic findings were reviewed in the patients and th...

Plasma Mucin-1 (CA15-3) Levels in Autosomal Dominant Tubulointerstitial Kidney Disease ...
https://doi.org/10.1159/000515810
American Journal of Nephrology; Vylet'al P, Kidd K et. al.

Jun 8th, 2021 - Patients with ADTKD-MUC1 have one allele producing normal mucin-1 (MUC1) and one allele producing mutant MUC1, which remains intracellular. We hypothesized that ADTKD-MUC1 patients, who have only 1 secretory-competent wild-type MUC1 allele, should...

Autosomal dominant tubulointerstitial kidney disease: more than just HNF1β.
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Pediatric Nephrology (Berlin, Germany); Bleyer AJ, Wolf MT et. al.

May 23rd, 2021 - Autosomal dominant tubulointerstitial kidney disease (ADTKD) refers to a group of disorders with a bland urinary sediment, slowly progressive chronic kidney disease (CKD), and autosomal dominant inheritance. Due to advances in genetic diagnosis, A...

Autosomal Dominant Tubulointerstitial Kidney Disease – UMOD - GeneReviews® - NCBI Bookshelf
https://www.ncbi.nlm.nih.gov/books/n/gene/mckd2/

Apr 8th, 2021 - Autosomal dominant tubulointerstitial kidney disease – UMOD (ADTKD-UMOD) is characterized by normal urinalysis and slowly progressive chronic kidney disease (CKD), usually first noted in the teen years and progressing to end-stage renal disease (E...

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