Clinical and genetic spectra of autosomal dominant tubulointerstitial kidney disease

H Mabillard, JA Sayer, E Olinger - Nephrology Dialysis …, 2023 - academic.oup.com
Autosomal dominant tubulointerstitial kidney disease (ADTKD) is a clinical entity defined by
interstitial fibrosis with tubular damage, bland urinalysis and progressive kidney disease …

Autosomal dominant tubulointerstitial kidney disease: A review

M Živná, KO Kidd, V Barešová… - American Journal of …, 2022 - Wiley Online Library
The clinical characteristics of autosomal dominant tubulointerstitial kidney disease (ADTKD)
include bland urinary sediment, slowly progressive chronic kidney disease (CKD) with many …

[HTML][HTML] Autosomal dominant tubulointerstitial kidney disease: an emerging cause of genetic CKD

L Econimo, C Schaeffer, L Zeni, R Cortinovis… - Kidney International …, 2022 - Elsevier
Autosomal dominant tubulointerstitial kidney disease (ADTKD) is a rare inherited disorder
characterized by progressive loss of kidney function, nonsignificant urinalysis and …

[HTML][HTML] Detecting MUC1 variants in patients clinicopathologically diagnosed with having autosomal dominant tubulointerstitial kidney disease

E Okada, N Morisada, T Horinouchi, H Fujii… - Kidney International …, 2022 - Elsevier
Introduction Autosomal dominant tubulointerstitial kidney disease (ADTKD)-MUC1 is
predominantly caused by frameshift mutations owing to a single-base insertion into the …

[HTML][HTML] The value of proteomic studies of the latest markers of kidney damage in the urine to assess the course, progression and complications in patients with CKD

LD Denova - Kidneys, 2022 - kidneys.zaslavsky.com.ua
Сhronic kidney Disease (CKD) is the cause of both morbidity and mortality worldwide. In
Ukraine, 12% of the population is diagnosed with CKD. Significantly worsen the quality of …

Cystic diseases of the kidney

FR Oskoui, M Mrug, T Saigusa, DV Rizk - Emery and Rimoin's Principles …, 2023 - Elsevier
Inherited cystic diseases of the kidneys are some of the most significant monogenic causes
of renal disorders causing significant morbidity and mortality in both the pediatric and adult …

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

M Fistrek Prlic, S Huljev Frkovic, B Beck… - Frontiers in …, 2023 - frontiersin.org
Introduction Genetic kidney diseases are underdiagnosed; namely, from 7% to 40% of
patients suffering from chronic kidney disease (CKD) can carry a pathogenic variant …

Computational investigation of a novel uromodulin gene mutation (p. Y286C) in a family with autosomal dominant tubulointerstitial renal disease: A case study

CTN Medina, SA de Alencar, DP Nascimento, R Pogue - Human Gene, 2023 - Elsevier
Autosomal dominant tubulointerstitial kidney disease caused by a pathogenic variant in the
UMOD gene (ADTKD) is a rare tubulointerstitial nephropathy characterized by …

[PDF][PDF] Значення протеомних досліджень новітніх маркерів ураження нирок у сечі для оцінки перебігу, прогресування й ускладнень у пацієнтів із ХХН

ЛД Денова - Нирки, 2022 - kidneys.zaslavsky.com.ua
Хронічна хвороба нирок (ХХН) є причиною як захворюваності, так і смертності в усьому
світі. В Україні ХХН виявляють у 12% населення. Суттєво погіршують якість життя у …

[HTML][HTML] Autosomal dominant tubulointerstitial kidney disease–umod

AJ Bleyer, K Kidd, M Živná, S Kmoch - 2021 - europepmc.org
Autosomal dominant tubulointerstitial kidney disease–UMOD (ADTKD-UMOD) is
characterized by normal urinalysis and slowly progressive chronic kidney disease (CKD) …