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ALLMedicine™ Autosomal Dominant Tubulointerstitial Kidney Disease Center

Research & Reviews  105 results

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

Apr 7th, 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...

Uromodulin: Roles in Health and Disease.
https://doi.org/10.1146/annurev-physiol-031620-092817
Annual Review of Physiology; Schaeffer C, Devuyst O et. al.

Feb 10th, 2021 - Uromodulin, a protein exclusively produced by the kidney, is the most abundant urinary protein in physiological conditions. Already described several decades ago, uromodulin has gained the spotlight in recent years, since the discovery that mutati...

Significance of kidney biopsy in autosomal dominant tubulointerstitial kidney disease-U...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7784305
BMC Nephrology; Onoe T, Hara S et. al.

Jan 5th, 2021 - Autosomal dominant tubulointerstitial kidney disease (ADTKD) is a rare hereditary disease caused by a variety of genetic mutations. Carriers of a mutation in the responsible genes are at risk of reaching end-stage kidney disease typically in middl...

Autosomal Dominant Tubulointerstitial Kidney Disease – REN - GeneReviews® - NCBI Bookshelf
https://www.ncbi.nlm.nih.gov/books/n/gene/hyper-nfj2/

Dec 9th, 2020 - The two clinical presentations observed in autosomal dominant tubulointerstitial kidney disease – REN (ADTKD-REN) correlate with the renin protein domains affected by the causative REN variants.

Clinical and genetic spectra of kidney disease caused by REN mutations.
https://doi.org/10.1016/j.kint.2020.08.013
Kidney International; Schaeffer C, Olinger E

Dec 5th, 2020 - Heterozygous mutations in REN cause autosomal dominant tubulointerstitial kidney disease (ADTKD), an increasingly recognized entity characterized by interstitial fibrosis and tubular damage. In contrast to more common forms of ADTKD, the rarity of...

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Guidelines  1 results

Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and ma...
https://doi.org/10.1038/ki.2015.28
Kidney International; Eckardt KU, Alper SL et. al.

Mar 4th, 2015 - Rare autosomal dominant tubulointerstitial kidney disease is caused by mutations in the genes encoding uromodulin (UMOD), hepatocyte nuclear factor-1β (HNF1B), renin (REN), and mucin-1 (MUC1). Multiple names have been proposed for these disorders,...

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Clinicaltrials.gov  105 results

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

Apr 7th, 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...

Uromodulin: Roles in Health and Disease.
https://doi.org/10.1146/annurev-physiol-031620-092817
Annual Review of Physiology; Schaeffer C, Devuyst O et. al.

Feb 10th, 2021 - Uromodulin, a protein exclusively produced by the kidney, is the most abundant urinary protein in physiological conditions. Already described several decades ago, uromodulin has gained the spotlight in recent years, since the discovery that mutati...

Significance of kidney biopsy in autosomal dominant tubulointerstitial kidney disease-U...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7784305
BMC Nephrology; Onoe T, Hara S et. al.

Jan 5th, 2021 - Autosomal dominant tubulointerstitial kidney disease (ADTKD) is a rare hereditary disease caused by a variety of genetic mutations. Carriers of a mutation in the responsible genes are at risk of reaching end-stage kidney disease typically in middl...

Autosomal Dominant Tubulointerstitial Kidney Disease – REN - GeneReviews® - NCBI Bookshelf
https://www.ncbi.nlm.nih.gov/books/n/gene/hyper-nfj2/

Dec 9th, 2020 - The two clinical presentations observed in autosomal dominant tubulointerstitial kidney disease – REN (ADTKD-REN) correlate with the renin protein domains affected by the causative REN variants.

Clinical and genetic spectra of kidney disease caused by REN mutations.
https://doi.org/10.1016/j.kint.2020.08.013
Kidney International; Schaeffer C, Olinger E

Dec 5th, 2020 - Heterozygous mutations in REN cause autosomal dominant tubulointerstitial kidney disease (ADTKD), an increasingly recognized entity characterized by interstitial fibrosis and tubular damage. In contrast to more common forms of ADTKD, the rarity of...

see more →