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1. Genetics in chronic kidney disease: conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference

Author

UCL - SSS/IREC/NEFR - Pôle de Néphrologie, UCL - (SLuc) Service de néphrologie, Köttgen, Anna, Cornec-Le Gall, Emilie, Halbritter, Jan, Kiryluk, Krzysztof, Mallett, Andrew J., Parekh, Rulan S., Rasouly, Hila Milo, Sampson, Matthew G., Tin, Adrienne, Antignac, Corinne, Ars, Elisabet, Bergmann, Carsten, Bleyer, Anthony J., Bockenhauer, Detlef, Devuyst, Olivier, Florez, Jose C., Fowler, Kevin J., Franceschini, Nora, Fukagawa, Masafumi, Gale, Daniel P., Gbadegesin, Rasheed A., Goldstein, David B., Grams, Morgan E., Greka, Anna, Gross, Oliver, Guay-Woodford, Lisa M., Harris, Peter C., Hoefele, Julia, Hung, Adriana M., Knoers, Nine V.A.M., Kopp, Jeffrey B., Kretzler, Matthias, Lanktree, Matthew B., Lipska-Ziętkiewicz, Beata S., Nicholls, Kathleen, Nozu, Kandai, Ojo, Akinlolu, Parsa, Afshin, Pattaro, Cristian, Pei, York, Pollak, Martin R., Rhee, Eugene P., Sanna-Cherchi, Simone, Savige, Judy, Sayer, John A., Scolari, Francesco, Sedor, John R., Sim, Xueling, Somlo, Stefan, Susztak, Katalin, Tayo, Bamidele O., Torra, Roser, van Eerde, Albertien M., Weinstock, André, Winkler, Cheryl A., Wuttke, Matthias, Zhang, Hong, King, Jennifer M., Cheung, Michael, Jadoul, Michel, Winkelmayer, Wolfgang C., Gharavi, Ali G., UCL - SSS/IREC/NEFR - Pôle de Néphrologie, UCL - (SLuc) Service de néphrologie, Köttgen, Anna, Cornec-Le Gall, Emilie, Halbritter, Jan, Kiryluk, Krzysztof, Mallett, Andrew J., Parekh, Rulan S., Rasouly, Hila Milo, Sampson, Matthew G., Tin, Adrienne, Antignac, Corinne, Ars, Elisabet, Bergmann, Carsten, Bleyer, Anthony J., Bockenhauer, Detlef, Devuyst, Olivier, Florez, Jose C., Fowler, Kevin J., Franceschini, Nora, Fukagawa, Masafumi, Gale, Daniel P., Gbadegesin, Rasheed A., Goldstein, David B., Grams, Morgan E., Greka, Anna, Gross, Oliver, Guay-Woodford, Lisa M., Harris, Peter C., Hoefele, Julia, Hung, Adriana M., Knoers, Nine V.A.M., Kopp, Jeffrey B., Kretzler, Matthias, Lanktree, Matthew B., Lipska-Ziętkiewicz, Beata S., Nicholls, Kathleen, Nozu, Kandai, Ojo, Akinlolu, Parsa, Afshin, Pattaro, Cristian, Pei, York, Pollak, Martin R., Rhee, Eugene P., Sanna-Cherchi, Simone, Savige, Judy, Sayer, John A., Scolari, Francesco, Sedor, John R., Sim, Xueling, Somlo, Stefan, Susztak, Katalin, Tayo, Bamidele O., Torra, Roser, van Eerde, Albertien M., Weinstock, André, Winkler, Cheryl A., Wuttke, Matthias, Zhang, Hong, King, Jennifer M., Cheung, Michael, Jadoul, Michel, Winkelmayer, Wolfgang C., and Gharavi, Ali G.

Published
2022

2. International consensus statement on the diagnosis and management of autosomal dominant polycystic kidney disease in children and young people

Author

Gimpel, Charlotte, Bergmann, Carsten, Bockenhauer, Detlef, Breysem, Luc, Cadnapaphornchai, Melissa A., Cetiner, Metin, Dudley, Jan, Emma, Francesco, Konrad, Martin, Harris, Tess, Harris, Peter C., Koenig, Jens, Liebau, Max C., Marlais, Matko, Mekahli, Djalila, Metcalfe, Alison M., Oh, Jun, Perrone, Ronald D., Sinha, Manish D., Titieni, Andrea, Torra, Roser, Weber, Stefanie, Winyard, Paul J. D., Schaefer, Franz, Gimpel, Charlotte, Bergmann, Carsten, Bockenhauer, Detlef, Breysem, Luc, Cadnapaphornchai, Melissa A., Cetiner, Metin, Dudley, Jan, Emma, Francesco, Konrad, Martin, Harris, Tess, Harris, Peter C., Koenig, Jens, Liebau, Max C., Marlais, Matko, Mekahli, Djalila, Metcalfe, Alison M., Oh, Jun, Perrone, Ronald D., Sinha, Manish D., Titieni, Andrea, Torra, Roser, Weber, Stefanie, Winyard, Paul J. D., and Schaefer, Franz

Abstract

These recommendations were systematically developed on behalf of the Network for Early Onset Cystic Kidney Disease (NEOCYST) by an international group of experts in autosomal dominant polycystic kidney disease (ADPKD) from paediatric and adult nephrology, human genetics, paediatric radiology and ethics specialties together with patient representatives. They have been endorsed by the International Pediatric Nephrology Association (IPNA) and the European Society of Paediatric Nephrology (ESPN). For asymptomatic minors at risk of ADPKD, ongoing surveillance (repeated screening for treatable disease manifestations without diagnostic testing) or immediate diagnostic screening are equally valid clinical approaches. Ultrasonography is the current radiological method of choice for screening. Sonographic detection of one or more cysts in an at-risk child is highly suggestive of ADPKD, but a negative scan cannot rule out ADPKD in childhood. Genetic testing is recommended for infants with very-early-onset symptomatic disease and for children with a negative family history and progressive disease. Children with a positive family history and either confirmed or unknown disease status should be monitored for hypertension (preferably by ambulatory blood pressure monitoring) and albuminuria. Currently, vasopressin antagonists should not be offered routinely but off-label use can be considered in selected children. No consensus was reached on the use of statins, but mTOR inhibitors and somatostatin analogues are not recommended. Children with ADPKD should be strongly encouraged to achieve the low dietary salt intake that is recommended for all children.

Published
2019

3. International consensus statement on the diagnosis and management of autosomal dominant polycystic kidney disease in children and young people

Author

Gimpel, Charlotte, Bergmann, Carsten, Bockenhauer, Detlef, Breysem, Luc, Cadnapaphornchai, Melissa A., Cetiner, Metin, Dudley, Jan, Emma, Francesco, Konrad, Martin, Harris, Tess, Harris, Peter C., Koenig, Jens, Liebau, Max C., Marlais, Matko, Mekahli, Djalila, Metcalfe, Alison M., Oh, Jun, Perrone, Ronald D., Sinha, Manish D., Titieni, Andrea, Torra, Roser, Weber, Stefanie, Winyard, Paul J. D., Schaefer, Franz, Gimpel, Charlotte, Bergmann, Carsten, Bockenhauer, Detlef, Breysem, Luc, Cadnapaphornchai, Melissa A., Cetiner, Metin, Dudley, Jan, Emma, Francesco, Konrad, Martin, Harris, Tess, Harris, Peter C., Koenig, Jens, Liebau, Max C., Marlais, Matko, Mekahli, Djalila, Metcalfe, Alison M., Oh, Jun, Perrone, Ronald D., Sinha, Manish D., Titieni, Andrea, Torra, Roser, Weber, Stefanie, Winyard, Paul J. D., and Schaefer, Franz

Abstract

These recommendations were systematically developed on behalf of the Network for Early Onset Cystic Kidney Disease (NEOCYST) by an international group of experts in autosomal dominant polycystic kidney disease (ADPKD) from paediatric and adult nephrology, human genetics, paediatric radiology and ethics specialties together with patient representatives. They have been endorsed by the International Pediatric Nephrology Association (IPNA) and the European Society of Paediatric Nephrology (ESPN). For asymptomatic minors at risk of ADPKD, ongoing surveillance (repeated screening for treatable disease manifestations without diagnostic testing) or immediate diagnostic screening are equally valid clinical approaches. Ultrasonography is the current radiological method of choice for screening. Sonographic detection of one or more cysts in an at-risk child is highly suggestive of ADPKD, but a negative scan cannot rule out ADPKD in childhood. Genetic testing is recommended for infants with very-early-onset symptomatic disease and for children with a negative family history and progressive disease. Children with a positive family history and either confirmed or unknown disease status should be monitored for hypertension (preferably by ambulatory blood pressure monitoring) and albuminuria. Currently, vasopressin antagonists should not be offered routinely but off-label use can be considered in selected children. No consensus was reached on the use of statins, but mTOR inhibitors and somatostatin analogues are not recommended. Children with ADPKD should be strongly encouraged to achieve the low dietary salt intake that is recommended for all children.

Published
2019

4. Identifying Genetic Modifiers in Severe Polycystic Liver Disease (PLD) by Whole Exome Sequencing

Author

UCL - SSS/IREC/NEFR - Pôle de Néphrologie, UCL - (SLuc) Service de néphrologie, Haghighi, Amirreza, Song, Xuewen, Cornec-Le-Gall, Emilie, Demoulin, Nathalie, Cnossen, Wybrich R, Hoenderop, Joost, Devuyst, Olivier, Torres, Vicente E, Harris, Peter C, Pei, York P, ASN Kidney Week, UCL - SSS/IREC/NEFR - Pôle de Néphrologie, UCL - (SLuc) Service de néphrologie, Haghighi, Amirreza, Song, Xuewen, Cornec-Le-Gall, Emilie, Demoulin, Nathalie, Cnossen, Wybrich R, Hoenderop, Joost, Devuyst, Olivier, Torres, Vicente E, Harris, Peter C, Pei, York P, and ASN Kidney Week

Abstract

diffusé sur CD-ROM

Published
2018

5. Can we further enrich autosomal dominant polycystic kidney disease clinical trials for rapidly progressive patients? Application of the PROPKD score in the TEMPO trial

Author

Cornec-Le Gall, Emilie, Blais, Jaime D, Irazabal, Maria V, Devuyst, Olivier, Gansevoort, Ron T, Perrone, Ron D, Chapman, Arlene B, Czerwiec, Frank S, Ouyang, John, Heyer, Christina M, Senum, Sarah R, Le Meur, Yannick, Torres, Vicente E, Harris, Peter C, Cornec-Le Gall, Emilie, Blais, Jaime D, Irazabal, Maria V, Devuyst, Olivier, Gansevoort, Ron T, Perrone, Ron D, Chapman, Arlene B, Czerwiec, Frank S, Ouyang, John, Heyer, Christina M, Senum, Sarah R, Le Meur, Yannick, Torres, Vicente E, and Harris, Peter C

Abstract

Background: The PROPKD score has been proposed to stratify the risk of progression to end-stage renal disease in autosomal dominant polycystic kidney disease (ADPKD) subjects. We aimed to assess its prognostic value in a genotyped subgroup of subjects from the Tolvaptan Phase 3 Efficacy and Safety Study in Autosomal Dominant Polycystic Kidney Disease (TEMPO3/4) trial. Methods: In the post hoc analysis, PKD1 and PKD2 were screened in 770 subjects and the PROPKD score was calculated in mutation-positive subjects (male: 1 point; hypertension <35 years: 2 points; first urologic event <35 years: 2 points; nontruncating PKD1 mutation: 2 points; truncating PKD1 mutation: 4 points). Subjects were classified into low-risk (LR; 0-3 points), intermediate-risk (IR; 4-6 points) and high-risk (HR; 7-9 points) groups. Results: The PROPKD score was calculated in 749 subjects (LR = 132, IR = 344 and HR = 273); age was inversely related to risk (LR = 43.6 years, IR = 39.5 years, HR = 36.2 years; P < 0.001). Subjects from the HR group had significantly higher height-adjusted total kidney volume (TKV) and rates of TKV growth. While baseline renal function was similar across all risk groups, the rate of estimated glomerular filtration rate (eGFR) decline significantly increased from LR to HR in the placebo group. Tolvaptan treatment effectiveness to reduce TKV growth was similar in all three risk categories. While tolvaptan significantly slowed eGFR decline in the IR (tolvaptan = -2.34 versus placebo = -3.33 mL/min/1.73 m 2 /year; P = 0.008) and HR groups (tolvaptan = -2.74 versus placebo = -3.94 mL/min/1.73 m 2 /year; P = 0.002), there was no difference in the LR group (tolvaptan = -2.35 versus placebo = -2.50 mL/min/1.73 m 2 /year; P = 0.72). Excluding the LR subjects from the analysis improved the apparent treatment effect of tolvaptan on eGFR decline. Conclusion: This study confirms the prognostic value of the PROPKD score and suggests that it could reduce costs and enhance endpoint

Published
2018

6. Common Elements in Rare Kidney Diseases: Conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference

Author

UCL - SSS/IREC/NEFR - Pôle de Néphrologie, UCL - (SLuc) Service de néphrologie, Aymé, Ségolène, Bockenhauer, Detlef, Day, Simon, Devuyst, Olivier, Guay-Woodford, Lisa M., Ingelfinger, Julie R., Klein, Jon B., Knoers, Nine V.A.M., Perrone, Ronald D., Roberts, Julia, Schaefer, Franz, Torres, Vicente E., Cheung, Michael, Wheeler, David C., Winkelmayer, Wolfgang C., Angelis, Aris, Antignac, Corinne, Bae, Kyongtae, Bergmann, Carsten, Bleyer, Anthony J., Bos, Marjolein, Budde, Klemens, Bull, Katherine, Chauveau, Dominique, Cnaan, Avital, Cornel, Martina, Cosyns, Etienne, de la Fosse, Jane, Ding, Jie, Gear, Susie, Goodship, Timothy H.J., Goodyer, Paul, Gross, Oliver, Harr, Nicole, Harris, Peter C., Harris, Tess, Höfele, Julia, Hogan, Marie C., Hoorn, Ewout, Horie, Shigeo, Kashtan, Clifford E., Kerecuk, Larissa, Kleta, Robert, Konrad, Martin, Langman, Craig B., Mariz, Segundo, McKerracher, Gayle, Nieuwenhoven, Annet, Odland, Dwight, Olinger, Eric, Ortiz, Alberto, Pei, York, Pirson, Yves, Rayner, Brian L., Remuzzi, Giuseppe, Renault, Daniel, Salomon, Rémi, Servais, Aude, Smith, Richard J., Soliman, Neveen A., Stengel, Bénédicte, Storm, Marjolein, Torra, Roser, van't Hoff, William, Vargas-Poussou, Rosa, Vroom, Elizabeth, Wanner, Christoph, Yap, Hui-Kim, UCL - SSS/IREC/NEFR - Pôle de Néphrologie, UCL - (SLuc) Service de néphrologie, Aymé, Ségolène, Bockenhauer, Detlef, Day, Simon, Devuyst, Olivier, Guay-Woodford, Lisa M., Ingelfinger, Julie R., Klein, Jon B., Knoers, Nine V.A.M., Perrone, Ronald D., Roberts, Julia, Schaefer, Franz, Torres, Vicente E., Cheung, Michael, Wheeler, David C., Winkelmayer, Wolfgang C., Angelis, Aris, Antignac, Corinne, Bae, Kyongtae, Bergmann, Carsten, Bleyer, Anthony J., Bos, Marjolein, Budde, Klemens, Bull, Katherine, Chauveau, Dominique, Cnaan, Avital, Cornel, Martina, Cosyns, Etienne, de la Fosse, Jane, Ding, Jie, Gear, Susie, Goodship, Timothy H.J., Goodyer, Paul, Gross, Oliver, Harr, Nicole, Harris, Peter C., Harris, Tess, Höfele, Julia, Hogan, Marie C., Hoorn, Ewout, Horie, Shigeo, Kashtan, Clifford E., Kerecuk, Larissa, Kleta, Robert, Konrad, Martin, Langman, Craig B., Mariz, Segundo, McKerracher, Gayle, Nieuwenhoven, Annet, Odland, Dwight, Olinger, Eric, Ortiz, Alberto, Pei, York, Pirson, Yves, Rayner, Brian L., Remuzzi, Giuseppe, Renault, Daniel, Salomon, Rémi, Servais, Aude, Smith, Richard J., Soliman, Neveen A., Stengel, Bénédicte, Storm, Marjolein, Torra, Roser, van't Hoff, William, Vargas-Poussou, Rosa, Vroom, Elizabeth, Wanner, Christoph, and Yap, Hui-Kim

Published
2017

7. Can we further enrich autosomal dominant polycystic kidney disease clinical trials for rapidly progressive patients? Application of the PROPKD score in the TEMPO trial

Author

UCL - SSS/IREC/NEFR - Pôle de Néphrologie, Cornec-Le Gall, Emilie, Blais, Jaime D, Irazabal, Maria V, Devuyst, Olivier, Gansevoort, Ron T, Perrone, Ron D, Chapman, Arlene B, Czerwiec, Frank S, Ouyang, John, Heyer, Christina M, Senum, Sarah R, Le Meur, Yannick, Torres, Vicente E, Harris, Peter C, UCL - SSS/IREC/NEFR - Pôle de Néphrologie, Cornec-Le Gall, Emilie, Blais, Jaime D, Irazabal, Maria V, Devuyst, Olivier, Gansevoort, Ron T, Perrone, Ron D, Chapman, Arlene B, Czerwiec, Frank S, Ouyang, John, Heyer, Christina M, Senum, Sarah R, Le Meur, Yannick, Torres, Vicente E, and Harris, Peter C

Abstract

Background: The PROPKD score has been proposed to stratify the risk of progression to end-stage renal disease in autosomal dominant polycystic kidney disease (ADPKD) subjects. We aimed to assess its prognostic value in a genotyped subgroup of subjects from the Tolvaptan Phase 3 Efficacy and Safety Study in Autosomal Dominant Polycystic Kidney Disease (TEMPO3/4) trial. Methods: In the post hoc analysis, PKD1 and PKD2 were screened in 770 subjects and the PROPKD score was calculated in mutation-positive subjects (male: 1 point; hypertension <35 years: 2 points; first urologic event <35 years: 2 points; nontruncating PKD1 mutation: 2 points; truncating PKD1 mutation: 4 points). Subjects were classified into low-risk (LR; 0-3 points), intermediate-risk (IR; 4-6 points) and high-risk (HR; 7-9 points) groups. Results: The PROPKD score was calculated in 749 subjects (LR = 132, IR = 344 and HR = 273); age was inversely related to risk (LR = 43.6 years, IR = 39.5 years, HR = 36.2 years; P < 0.001). Subjects from the HR group had significantly higher height-adjusted total kidney volume (TKV) and rates of TKV growth. While baseline renal function was similar across all risk groups, the rate of estimated glomerular filtration rate (eGFR) decline significantly increased from LR to HR in the placebo group. Tolvaptan treatment effectiveness to reduce TKV growth was similar in all three risk categories. While tolvaptan significantly slowed eGFR decline in the IR (tolvaptan = -2.34 versus placebo = -3.33 mL/min/1.73 m2/year; P = 0.008) and HR groups (tolvaptan = -2.74 versus placebo = -3.94 mL/min/1.73 m2/year; P = 0.002), there was no difference in the LR group (tolvaptan = -2.35 versus placebo = -2.50 mL/min/1.73 m2/year; P = 0.72). Excluding the LR subjects from the analysis improved the apparent treatment effect of tolvaptan on eGFR decline. Conclusion: This study confirms the prognostic value of the PROPKD score and suggests that it could reduce costs and enhance endpo

Published
2017

8. Prognostic Enrichment Design in Clinical Trials for Autosomal Dominant Polycystic Kidney Disease: The TEMPO 3:4 Clinical Trial

Author

UCL - SSS/IREC/NEFR - Pôle de Néphrologie, Irazabal, Maria V., Blais, Jaime D., Perrone, Ronald D., Gansevoort, Ron T., Chapman, Arlene B., Devuyst, Olivier, Higashihara, Eiji, Harris, Peter C., Zhou, Wen, Ouyang, John, Czerwiec, Frank S., Torres, Vicente E., UCL - SSS/IREC/NEFR - Pôle de Néphrologie, Irazabal, Maria V., Blais, Jaime D., Perrone, Ronald D., Gansevoort, Ron T., Chapman, Arlene B., Devuyst, Olivier, Higashihara, Eiji, Harris, Peter C., Zhou, Wen, Ouyang, John, Czerwiec, Frank S., and Torres, Vicente E.

Abstract

Introduction: Patients with slowly progressive autosomal dominant polycystic kidney disease (ADPKD) are unlikely to experience outcomes during randomized controlled trials (RCTs). An image classification of ADPKD into typical (diffuse cyst distribution) class 1A to E (by age- and height-adjusted total kidney volume [TKV]) and atypical (asymmetric cyst distribution) class 2 was proposed for prognostic enrichment design, recommending inclusion of only classes 1C to 1E in RCTs. Methods: A post hoc exploratory analysis was conducted of the TEMPO 3:4 Trial, a prospective, randomized, double-blinded, controlled clinical trial in adult subjects with ADPKD, an estimated creatinine clearance >60 ml/min and total kidney volume >750 ml. Results: Due to the entry criteria, the study population of TEMPO 3:4 was enriched for classes 1C-E (89.5 % of 1436 patients with baseline magnetic resonance images) compared to unselected populations (e.g., 60.5% of 590 Mayo Clinic patients). The effects of tolvaptan on TKV and eGFR slopes were greater in classes 1C to E than in 1B. In TEMPO 3:4, tolvaptan reduced TKV and eGFR slopes from 5.51% to 2.80% per year and from -3.70 to -2.78 ml/min/1.73 m2 per year, and lowered the risk for a composite endpoint of clinical progression events (hazard ratio = 0.87). Restricting enrollment to classes 1C to E would have reduced TKV and eGFR slopes from 5.78% to 2.91% per year and from -3.93 to -2.82 ml/min/1.73 m2 per year, and the risk of the composite endpoint (hazard ratio = 0.84, P = 0.003), with 10.5% fewer patients. Discussion: Prognostic enrichment strategies such as the entry criteria used for TEMPO 3:4 or preferably the proposed image classification should be used in RCTs for ADPKD to increase power and to reduce cost.

Published
2016

9. DCDC2 mutations cause a renal-hepatic ciliopathy by disrupting Wnt signaling

Author

Schueler, Markus, Braun, Daniela A, Chandrasekar, Gayathri, Gee, Heon Yung, Klasson, Timothy D., Halbritter, Jan, Bieder, Andrea, Porath, Jonathan D, Airik, Rannar, Zhou, Weibin, LoTurco, Joseph J, Che, Alicia, Otto, Edgar A, Böckenhauer, Detlef, Sebire, Neil J, Honzik, Tomas, Harris, Peter C, Koon, Sarah J, Gunay-Aygun, Meral, Saunier, Sophie, Zerres, Klaus, Bruechle, Nadina Ortiz, Drenth, Joost P H, Pelletier, Laurence, Tapia-Páez, Isabel, Lifton, Richard P, Giles, R, Kere, Juha, Hildebrandt, Friedhelm, Schueler, Markus, Braun, Daniela A, Chandrasekar, Gayathri, Gee, Heon Yung, Klasson, Timothy D., Halbritter, Jan, Bieder, Andrea, Porath, Jonathan D, Airik, Rannar, Zhou, Weibin, LoTurco, Joseph J, Che, Alicia, Otto, Edgar A, Böckenhauer, Detlef, Sebire, Neil J, Honzik, Tomas, Harris, Peter C, Koon, Sarah J, Gunay-Aygun, Meral, Saunier, Sophie, Zerres, Klaus, Bruechle, Nadina Ortiz, Drenth, Joost P H, Pelletier, Laurence, Tapia-Páez, Isabel, Lifton, Richard P, Giles, R, Kere, Juha, and Hildebrandt, Friedhelm

Published
2015

10. DCDC2 mutations cause a renal-hepatic ciliopathy by disrupting Wnt signaling

Author

Schueler, Markus, Braun, Daniela A, Chandrasekar, Gayathri, Gee, Heon Yung, Klasson, Timothy D., Halbritter, Jan, Bieder, Andrea, Porath, Jonathan D, Airik, Rannar, Zhou, Weibin, LoTurco, Joseph J, Che, Alicia, Otto, Edgar A, Böckenhauer, Detlef, Sebire, Neil J, Honzik, Tomas, Harris, Peter C, Koon, Sarah J, Gunay-Aygun, Meral, Saunier, Sophie, Zerres, Klaus, Bruechle, Nadina Ortiz, Drenth, Joost P H, Pelletier, Laurence, Tapia-Páez, Isabel, Lifton, Richard P, Giles, R, Kere, Juha, Hildebrandt, Friedhelm, Schueler, Markus, Braun, Daniela A, Chandrasekar, Gayathri, Gee, Heon Yung, Klasson, Timothy D., Halbritter, Jan, Bieder, Andrea, Porath, Jonathan D, Airik, Rannar, Zhou, Weibin, LoTurco, Joseph J, Che, Alicia, Otto, Edgar A, Böckenhauer, Detlef, Sebire, Neil J, Honzik, Tomas, Harris, Peter C, Koon, Sarah J, Gunay-Aygun, Meral, Saunier, Sophie, Zerres, Klaus, Bruechle, Nadina Ortiz, Drenth, Joost P H, Pelletier, Laurence, Tapia-Páez, Isabel, Lifton, Richard P, Giles, R, Kere, Juha, and Hildebrandt, Friedhelm

Published
2015

11. DCDC2 mutations cause a renal-hepatic ciliopathy by disrupting Wnt signaling

Author

Schueler, Markus, Braun, Daniela A, Chandrasekar, Gayathri, Gee, Heon Yung, Klasson, Timothy D., Halbritter, Jan, Bieder, Andrea, Porath, Jonathan D, Airik, Rannar, Zhou, Weibin, LoTurco, Joseph J, Che, Alicia, Otto, Edgar A, Böckenhauer, Detlef, Sebire, Neil J, Honzik, Tomas, Harris, Peter C, Koon, Sarah J, Gunay-Aygun, Meral, Saunier, Sophie, Zerres, Klaus, Bruechle, Nadina Ortiz, Drenth, Joost P H, Pelletier, Laurence, Tapia-Páez, Isabel, Lifton, Richard P, Giles, R, Kere, Juha, Hildebrandt, Friedhelm, Schueler, Markus, Braun, Daniela A, Chandrasekar, Gayathri, Gee, Heon Yung, Klasson, Timothy D., Halbritter, Jan, Bieder, Andrea, Porath, Jonathan D, Airik, Rannar, Zhou, Weibin, LoTurco, Joseph J, Che, Alicia, Otto, Edgar A, Böckenhauer, Detlef, Sebire, Neil J, Honzik, Tomas, Harris, Peter C, Koon, Sarah J, Gunay-Aygun, Meral, Saunier, Sophie, Zerres, Klaus, Bruechle, Nadina Ortiz, Drenth, Joost P H, Pelletier, Laurence, Tapia-Páez, Isabel, Lifton, Richard P, Giles, R, Kere, Juha, and Hildebrandt, Friedhelm

Published
2015

12. DCDC2 mutations cause a renal-hepatic ciliopathy by disrupting Wnt signaling

Author

Nefro Vasculaire Geneeskunde, Regenerative Medicine and Stem Cells, Circulatory Health, Schueler, Markus, Braun, Daniela A, Chandrasekar, Gayathri, Gee, Heon Yung, Klasson, Timothy D., Halbritter, Jan, Bieder, Andrea, Porath, Jonathan D, Airik, Rannar, Zhou, Weibin, LoTurco, Joseph J, Che, Alicia, Otto, Edgar A, Böckenhauer, Detlef, Sebire, Neil J, Honzik, Tomas, Harris, Peter C, Koon, Sarah J, Gunay-Aygun, Meral, Saunier, Sophie, Zerres, Klaus, Bruechle, Nadina Ortiz, Drenth, Joost P H, Pelletier, Laurence, Tapia-Páez, Isabel, Lifton, Richard P, Giles, R, Kere, Juha, Hildebrandt, Friedhelm, Nefro Vasculaire Geneeskunde, Regenerative Medicine and Stem Cells, Circulatory Health, Schueler, Markus, Braun, Daniela A, Chandrasekar, Gayathri, Gee, Heon Yung, Klasson, Timothy D., Halbritter, Jan, Bieder, Andrea, Porath, Jonathan D, Airik, Rannar, Zhou, Weibin, LoTurco, Joseph J, Che, Alicia, Otto, Edgar A, Böckenhauer, Detlef, Sebire, Neil J, Honzik, Tomas, Harris, Peter C, Koon, Sarah J, Gunay-Aygun, Meral, Saunier, Sophie, Zerres, Klaus, Bruechle, Nadina Ortiz, Drenth, Joost P H, Pelletier, Laurence, Tapia-Páez, Isabel, Lifton, Richard P, Giles, R, Kere, Juha, and Hildebrandt, Friedhelm

Published
2015

13. Genetic variation of DKK3 may modify renal disease severity in ADPKD.

Author

UCL - SSS/IREC/NEFR - Pôle de Néphrologie, UCL - (SLuc) Service de néphrologie, Liu, Michelle, Shi, Sally, Senthilnathan, Sean, Yu, Julie, Wu, Elliot, Bergmann, Carsten, Zerres, Klaus, Bogdanova, Nadja, Coto, Eliecer, Deltas, Constantinos, Pierides, Alkis, Demetriou, Kyproula, Devuyst, Olivier, Gitomer, Berenice, Laakso, Marku, Lumiaho, Anne, Lamnissou, Klea, Magistroni, Riccardo, Parfrey, Patrick, Breuning, Martijn, Peters, Dorien J M, Torra, Roser, Winearls, Christopher G, Torres, Vicente E, Harris, Peter C, Paterson, Andrew D, Pei, York, UCL - SSS/IREC/NEFR - Pôle de Néphrologie, UCL - (SLuc) Service de néphrologie, Liu, Michelle, Shi, Sally, Senthilnathan, Sean, Yu, Julie, Wu, Elliot, Bergmann, Carsten, Zerres, Klaus, Bogdanova, Nadja, Coto, Eliecer, Deltas, Constantinos, Pierides, Alkis, Demetriou, Kyproula, Devuyst, Olivier, Gitomer, Berenice, Laakso, Marku, Lumiaho, Anne, Lamnissou, Klea, Magistroni, Riccardo, Parfrey, Patrick, Breuning, Martijn, Peters, Dorien J M, Torra, Roser, Winearls, Christopher G, Torres, Vicente E, Harris, Peter C, Paterson, Andrew D, and Pei, York

Abstract

Significant variation in the course of autosomal dominant polycystic kidney disease ( ADPKD) within families suggests the presence of effect modifiers. Recent studies of the variation within families harboring PKD1 mutations indicate that genetic background may account for 32 to 42% of the variance in estimated GFR (eGFR) before ESRD and 43 to 78% of the variance in age at ESRD onset, but the genetic modifiers are unknown. Here, we conducted a high-throughput single-nucleotide polymorphism (SNP) genotyping association study of 173 biological candidate genes in 794 white patients from 227 families with PKD1. We analyzed two primary outcomes: (1) eGFR and (2) time to ESRD (renal survival). For both outcomes, we used multidimensional scaling to correct for population structure and generalized estimating equations to account for the relatedness among individuals within the same family. We found suggestive associations between each of 12 SNPs and at least one of the renal outcomes. We genotyped these SNPs in a second set of 472 white patients from 229 families with PKD1 and performed a joint analysis on both cohorts. Three SNPs continued to show suggestive/significant association with eGFR at the Dickkopf 3 (DKK3) gene locus; no SNPs significantly associated with renal survival. DKK3 antagonizes Wnt/beta-catenin signaling, which may modulate renal cyst growth. Pending replication, our study suggests that genetic variation of DKK3 may modify severity of ADPKD resulting from PKD1 mutations.

Published
2010

14. Progress and prospects in rat genetics: a community view.

Author

Aitman, Timothy J, Critser, John K, Cuppen, Edwin, Dominiczak, Anna, Fernandez-Suarez, Xose M, Flint, Jonathan, Gauguier, Dominique, Geurts, Aron M, Gould, Michael, Harris, Peter C, Holmdahl, Rikard, Hubner, Norbert, Izsvák, Zsuzsanna, Jacob, Howard J, Kuramoto, Takashi, Kwitek, Anne E, Marrone, Anna, Mashimo, Tomoji, Moreno, Carol, Mullins, John, Mullins, Linda, Olsson, Tomas, Pravenec, Michal, Riley, Lela, Saar, Kathrin, Serikawa, Tadao, Shull, James D, Szpirer, Claude, Twigger, Simon N, Voigt, Birger, Worley, Kim, Aitman, Timothy J, Critser, John K, Cuppen, Edwin, Dominiczak, Anna, Fernandez-Suarez, Xose M, Flint, Jonathan, Gauguier, Dominique, Geurts, Aron M, Gould, Michael, Harris, Peter C, Holmdahl, Rikard, Hubner, Norbert, Izsvák, Zsuzsanna, Jacob, Howard J, Kuramoto, Takashi, Kwitek, Anne E, Marrone, Anna, Mashimo, Tomoji, Moreno, Carol, Mullins, John, Mullins, Linda, Olsson, Tomas, Pravenec, Michal, Riley, Lela, Saar, Kathrin, Serikawa, Tadao, Shull, James D, Szpirer, Claude, Twigger, Simon N, Voigt, Birger, and Worley, Kim

Abstract

The rat is an important system for modeling human disease. Four years ago, the rich 150-year history of rat research was transformed by the sequencing of the rat genome, ushering in an era of exceptional opportunity for identifying genes and pathways underlying disease phenotypes. Genome-wide association studies in human populations have recently provided a direct approach for finding robust genetic associations in common diseases, but identifying the precise genes and their mechanisms of action remains problematic. In the context of significant progress in rat genomic resources over the past decade, we outline achievements in rat gene discovery to date, show how these findings have been translated to human disease, and document an increasing pace of discovery of new disease genes, pathways and mechanisms. Finally, we present a set of principles that justify continuing and strengthening genetic studies in the rat model, and further development of genomic infrastructure for rat research., Journal Article, Review, info:eu-repo/semantics/published

Published
2008

15. Progress and prospects in rat genetics: a community view.

Author

Aitman, Timothy J, Critser, John K, Cuppen, Edwin, Dominiczak, Anna, Fernandez-Suarez, Xose M, Flint, Jonathan, Gauguier, Dominique, Geurts, Aron M, Gould, Michael, Harris, Peter C, Holmdahl, Rikard, Hubner, Norbert, Izsvák, Zsuzsanna, Jacob, Howard J, Kuramoto, Takashi, Kwitek, Anne E, Marrone, Anna, Mashimo, Tomoji, Moreno, Carol, Mullins, John, Mullins, Linda, Olsson, Tomas, Pravenec, Michal, Riley, Lela, Saar, Kathrin, Serikawa, Tadao, Shull, James D, Szpirer, Claude, Twigger, Simon N, Voigt, Birger, Worley, Kim, Aitman, Timothy J, Critser, John K, Cuppen, Edwin, Dominiczak, Anna, Fernandez-Suarez, Xose M, Flint, Jonathan, Gauguier, Dominique, Geurts, Aron M, Gould, Michael, Harris, Peter C, Holmdahl, Rikard, Hubner, Norbert, Izsvák, Zsuzsanna, Jacob, Howard J, Kuramoto, Takashi, Kwitek, Anne E, Marrone, Anna, Mashimo, Tomoji, Moreno, Carol, Mullins, John, Mullins, Linda, Olsson, Tomas, Pravenec, Michal, Riley, Lela, Saar, Kathrin, Serikawa, Tadao, Shull, James D, Szpirer, Claude, Twigger, Simon N, Voigt, Birger, and Worley, Kim

Abstract

The rat is an important system for modeling human disease. Four years ago, the rich 150-year history of rat research was transformed by the sequencing of the rat genome, ushering in an era of exceptional opportunity for identifying genes and pathways underlying disease phenotypes. Genome-wide association studies in human populations have recently provided a direct approach for finding robust genetic associations in common diseases, but identifying the precise genes and their mechanisms of action remains problematic. In the context of significant progress in rat genomic resources over the past decade, we outline achievements in rat gene discovery to date, show how these findings have been translated to human disease, and document an increasing pace of discovery of new disease genes, pathways and mechanisms. Finally, we present a set of principles that justify continuing and strengthening genetic studies in the rat model, and further development of genomic infrastructure for rat research., Journal Article, Review, info:eu-repo/semantics/published

Published
2008

16. Autosomal dominant polycystic kidney disease

Author

UCL - MD/MINT - Département de médecine interne, UCL - (SLuc) Service de néphrologie, Torres, Vicente E., Harris, Peter C., Pirson, Yves, UCL - MD/MINT - Département de médecine interne, UCL - (SLuc) Service de néphrologie, Torres, Vicente E., Harris, Peter C., and Pirson, Yves

Abstract

Autosomal dominant polycystic kidney disease is the most prevalent, potentially lethal, monogenic disorder. It is associated with large interfamilial and intrafamilial variability, which can be explained to a large extent by its genetic heterogeneity and modifier genes. An increased understanding of the disorder's underlying genetic, molecular, and cellular mechanisms and a better appreciation of its progression and systemic manifestations have laid out the foundation for the development of clinical trials and potentially effective treatments.

Published
2007

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