Abstract: INFO21
Autosomal Dominant Tubulointerstitial Kidney Disease (ADTKD) Registry, Free Genetic Testing
Session Information
- Informational Posters
November 03, 2022 | Location: Exhibit Hall, Orange County Convention Center‚ West Building
Abstract Time: 10:00 AM - 12:00 PM
Category: Genetic Diseases of the Kidneys
- No subcategory defined
Authors
- Bleyer, Anthony J., Wake Forest University School of Medicine, Winston-Salem, North Carolina, United States
- Zivna, Martina, Univerzita Karlova 1 lekarska fakulta, Praha, Praha, Czechia
- Kidd, Kendrah O., Wake Forest University School of Medicine, Winston-Salem, North Carolina, United States
- Greka, Anna, Broad Institute, Cambridge, Massachusetts, United States
- Kmoch, Stanislav, Univerzita Karlova 1 lekarska fakulta, Praha, Praha, Czechia
Description
Autosomal dominant tubulointerstitial kidney disease (ADTKD) is characterized by autosomal dominant inheritance, a bland urinary sediment, progressive chronic kidney disease with mean age of end-stage kidney disease approximately 45 years (range 20 to >70). ADTKD is most commonly caused by mutations in UMOD, MUC1, and REN. While UMOD and REN mutations can be identified through genetic panels or whole exome sequencing, MUC1 mutations cannot be identified through these techniques.
The Rare Inherited Kidney Disease (RIKD) Team of Wake Forest is collaborating with the Broad Institute of MIT and Harvard and with the First Faculty of Medicine, Charles University, Czech Republic to provide free sequencing for ADTKD. In addition to UMOD and REN sequencing, we provide testing for mutations in the MUC1 gene - both the common cytosine duplication and other variants. Contact ableyer@wakehealth.edu for more information.
The RIKD Team also has a prospective observational trial and registry for patients with UMOD, REN, MUC1, and FAN1 mutations. Patients have serum creatinine determinations performed every four months. Patients are provided with educational materials and webinars related to ADTKD and kept informed of a future interventional clinical trial that is in preparation.
We are also interested in helping resolve any cases of inherited kidney disease of unknown cause. Please contact ableyer@wakehealth.edu
Most Common Forms of Autosomal Dominant Tubulointerstitial Kidney Disease (ADTKD)
| Gene | Protein | Disease name | Associated Symptoms Besides CKD |
| UMOD | Uromodulin | ADTKD-UMOD | Gout in some families prior to CKD |
| MUC1 | Mucin-1 | ADTKD-MUC1 | No other associated symptoms |
| REN | Renin | ADTKD-REN | Anemia in childhood, gout, mild hypotension, mild hyperkalemia |
| HNF1β | Hepatocyte Nuclear Factor 1 beta | ADTKD-HNF1β | Early onset diabetes, CKD, genito-urinary tract abnormalities, unexplained elevated liver tests |
Abstract: INFO21
Autosomal Dominant Tubulointerstitial Kidney Disease (ADTKD) Registry, Free Genetic Testing
Session Information
- Informational Posters
November 04, 2022 | Location: Exhibit Hall, Orange County Convention Center‚ West Building
Abstract Time: 10:00 AM - 12:00 PM
Category:
- No subcategory defined
Authors
- Bleyer, Anthony J., Wake Forest University School of Medicine, Winston-Salem, North Carolina, United States
- Zivna, Martina, Univerzita Karlova 1 lekarska fakulta, Praha, Praha, Czechia
- Kidd, Kendrah O., Wake Forest University School of Medicine, Winston-Salem, North Carolina, United States
- Greka, Anna, Broad Institute, Cambridge, Massachusetts, United States
- Kmoch, Stanislav, Univerzita Karlova 1 lekarska fakulta, Praha, Praha, Czechia
Description
Autosomal dominant tubulointerstitial kidney disease (ADTKD) is characterized by autosomal dominant inheritance, a bland urinary sediment, progressive chronic kidney disease with mean age of end-stage kidney disease approximately 45 years (range 20 to >70). ADTKD is most commonly caused by mutations in UMOD, MUC1, and REN. While UMOD and REN mutations can be identified through genetic panels or whole exome sequencing, MUC1 mutations cannot be identified through these techniques.
The Rare Inherited Kidney Disease (RIKD) Team of Wake Forest is collaborating with the Broad Institute of MIT and Harvard and with the First Faculty of Medicine, Charles University, Czech Republic to provide free sequencing for ADTKD. In addition to UMOD and REN sequencing, we provide testing for mutations in the MUC1 gene - both the common cytosine duplication and other variants. Contact ableyer@wakehealth.edu for more information.
The RIKD Team also has a prospective observational trial and registry for patients with UMOD, REN, MUC1, and FAN1 mutations. Patients have serum creatinine determinations performed every four months. Patients are provided with educational materials and webinars related to ADTKD and kept informed of a future interventional clinical trial that is in preparation.
We are also interested in helping resolve any cases of inherited kidney disease of unknown cause. Please contact ableyer@wakehealth.edu
Most Common Forms of Autosomal Dominant Tubulointerstitial Kidney Disease (ADTKD)
| Gene | Protein | Disease name | Associated Symptoms Besides CKD |
| UMOD | Uromodulin | ADTKD-UMOD | Gout in some families prior to CKD |
| MUC1 | Mucin-1 | ADTKD-MUC1 | No other associated symptoms |
| REN | Renin | ADTKD-REN | Anemia in childhood, gout, mild hypotension, mild hyperkalemia |
| HNF1β | Hepatocyte Nuclear Factor 1 beta | ADTKD-HNF1β | Early onset diabetes, CKD, genito-urinary tract abnormalities, unexplained elevated liver tests |
Abstract: INFO21
Autosomal Dominant Tubulointerstitial Kidney Disease (ADTKD) Registry, Free Genetic Testing
Session Information
- Informational Posters
November 05, 2022 | Location: Exhibit Hall, Orange County Convention Center‚ West Building
Abstract Time: 10:00 AM - 12:00 PM
Category:
- No subcategory defined
Authors
- Bleyer, Anthony J., Wake Forest University School of Medicine, Winston-Salem, North Carolina, United States
- Zivna, Martina, Univerzita Karlova 1 lekarska fakulta, Praha, Praha, Czechia
- Kidd, Kendrah O., Wake Forest University School of Medicine, Winston-Salem, North Carolina, United States
- Greka, Anna, Broad Institute, Cambridge, Massachusetts, United States
- Kmoch, Stanislav, Univerzita Karlova 1 lekarska fakulta, Praha, Praha, Czechia
Description
Autosomal dominant tubulointerstitial kidney disease (ADTKD) is characterized by autosomal dominant inheritance, a bland urinary sediment, progressive chronic kidney disease with mean age of end-stage kidney disease approximately 45 years (range 20 to >70). ADTKD is most commonly caused by mutations in UMOD, MUC1, and REN. While UMOD and REN mutations can be identified through genetic panels or whole exome sequencing, MUC1 mutations cannot be identified through these techniques.
The Rare Inherited Kidney Disease (RIKD) Team of Wake Forest is collaborating with the Broad Institute of MIT and Harvard and with the First Faculty of Medicine, Charles University, Czech Republic to provide free sequencing for ADTKD. In addition to UMOD and REN sequencing, we provide testing for mutations in the MUC1 gene - both the common cytosine duplication and other variants. Contact ableyer@wakehealth.edu for more information.
The RIKD Team also has a prospective observational trial and registry for patients with UMOD, REN, MUC1, and FAN1 mutations. Patients have serum creatinine determinations performed every four months. Patients are provided with educational materials and webinars related to ADTKD and kept informed of a future interventional clinical trial that is in preparation.
We are also interested in helping resolve any cases of inherited kidney disease of unknown cause. Please contact ableyer@wakehealth.edu
Most Common Forms of Autosomal Dominant Tubulointerstitial Kidney Disease (ADTKD)
| Gene | Protein | Disease name | Associated Symptoms Besides CKD |
| UMOD | Uromodulin | ADTKD-UMOD | Gout in some families prior to CKD |
| MUC1 | Mucin-1 | ADTKD-MUC1 | No other associated symptoms |
| REN | Renin | ADTKD-REN | Anemia in childhood, gout, mild hypotension, mild hyperkalemia |
| HNF1β | Hepatocyte Nuclear Factor 1 beta | ADTKD-HNF1β | Early onset diabetes, CKD, genito-urinary tract abnormalities, unexplained elevated liver tests |