Kidney Calculi
|
0.100 |
Biomarker
|
disease |
BEFREE |
Uromodulin is known to affect the formation of calcium-containing kidney stones, and this localization of UMOD will help in studies of families with autosomal forms of nephrolithiasis.
|
8179291 |
1993 |
Kidney Calculi
|
0.100 |
Biomarker
|
disease |
BEFREE |
Despite an amplified biological effect of the homozygote mutation, the proband did not show a strikingly more severe clinical evolution nor was the near absence of urinary uromodulin associated with urinary tract infections or kidney stones.
|
28605509 |
2017 |
Kidney Calculi
|
0.100 |
Biomarker
|
disease |
BEFREE |
UMOD has been linked to water/electrolyte balance and to kidney innate immunity and it is believed to protect against urinary tract infections and renal stones.
|
25228753 |
2015 |
Kidney Calculi
|
0.100 |
Biomarker
|
disease |
BEFREE |
UMOD has multiple functions such as protection against urinary tract infections and nephrolithiasis.
|
31205055 |
2019 |
Kidney Calculi
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
For example, common variants in the UMOD and PRKAG2 genes are associated with risk of chronic kidney disease; variants in CLDN14 with risk of kidney stone disease; and variants in or near SHROOM3, STC1, LASS2, GCKR, NAT8/ALMS1, TFDP2, DAB2, SLC34A1, VEGFA, FAM122A/PIP5K1B, ATXN2, DACH1, UBE2Q2/FBXO22, and SLC7A9, with differences in glomerular filtration rate.
|
20728256 |
2010 |
Kidney Calculi
|
0.100 |
Biomarker
|
disease |
BEFREE |
Thus, biosynthesis of uromodulin in the DCT1 is critical for its function, structure and plasticity, suggesting novel links between uromodulin, blood pressure control and risk of kidney stones.
|
30007527 |
2018 |
Kidney Calculi
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In contrast to CKD, the UMOD variant confers protection against kidney stones when studied in 3,617 Icelandic and Dutch kidney stone cases and 43,201 controls (OR = 0.88, P = 5.7 x 10(-5)).
|
20686651 |
2010 |
Kidney Calculi
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Moreover, genome-wide association studies have identified common variants in UMOD that are strongly associated with risk of CKD and also with hypertension and kidney stones in the general population.
|
28781372 |
2017 |
Kidney Calculi
|
0.100 |
Biomarker
|
disease |
BEFREE |
The aim of the study was assessment of four selected macromolecules level: osteopontin, calgranulin, uromodulin and bikunin in fresh morning urine sample in children with nephrolithiasis in the course of idiopathic hypercalciuria.
|
29353465 |
2018 |
Kidney Calculi
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Indeed, mutations in THP cause a group of inherited kidney diseases, and altered THP expression is associated with increased risks of urinary tract infection, kidney stone, hypertension, hyperuricemia and acute and chronic kidney diseases.
|
30649494 |
2020 |
Kidney Calculi
|
0.100 |
Biomarker
|
disease |
BEFREE |
This review highlights new studies elucidating the clinical correlates of uromodulin, its association with kidney function decline, nephrolithiasis and urinary host defense.
|
27898524 |
2017 |