Article
Medicine, General & Internal
Javier Naranjo, Francisco Borrego, Jose Luis Rocha, Mercedes Salgueira, Maria Adoracion Martin-Gomez, Cristhian Orellana, Ana Morales, Fernando Vallejo, Pilar Hidalgo, Francisca Rodriguez, Remedios Garofano, Isabel Gonzalez, Rafael Esteban, Mario Espinosa
Summary: This study aims to investigate the treatment effect of Tolvaptan (TV) on ADPKD patients. The results show that most patients tolerate TV treatment well, and liver toxicity is rare and self-limited. eGFR decreases significantly in the first month of treatment with no further changes during the first year. Patients with a higher starting eGFR experience a greater initial drop, with a longer recovery time.
FRONTIERS IN MEDICINE
(2022)
Review
Urology & Nephrology
Fei Liu, Chunyue Feng, Huijun Shen, Huaidong Fu, Jianhua Mao
Summary: Tolvaptan has shown efficacy in slowing down the progression of ADPKD in various clinical studies, with clear and sustained effects on the disease. Early intervention is crucial in managing ADPKD, and the use of tolvaptan in pediatric patients poses challenges related to patient assessment, quality of life, cost-effectiveness, safety, and tolerability. Ongoing studies, such as the phase 3b trial evaluating tolvaptan in pediatric ADPKD patients, may provide further insights into its use in this population.
Article
Medicine, General & Internal
Ahsan Alam, Emilie Cornec-Le Gall, Ronald D. Perrone
Summary: This article describes autosomal dominant polycystic kidney disease, its signs and symptoms, diagnosis, and treatment options.
JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION
(2023)
Article
Urology & Nephrology
Vicente E. Torres, Arlene B. Chapman, Olivier Devuyst, Ron T. Gansevoort, Ronald D. Perrone, Jennifer Lee, Molly E. Hoke, Alvin Estilo, Olga Sergeyeva
Summary: The study demonstrated that patients with prior long-term exposure to tolvaptan were more likely to experience aquaretic adverse events and liver enzyme abnormalities compared to those who were not exposed to tolvaptan. Monthly liver function testing appeared to be effective in detecting and managing transaminase elevations during the first 18 months of treatment.
CLINICAL JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
(2021)
Article
Urology & Nephrology
Francisco Jose Borrego Utiel, Ana Isabel Morales Garcia, Aurora Polo Moyano, Francisco Roca Oporto, Enoc Merino Garcia, Rafael Esteban de la Rosa
Summary: This study explored the factors associated with urine output in ADPKD patients taking tolvaptan (TVP). The results showed that TVP increased urine output by about double, while reducing urine solute concentration. However, there were no significant changes in urine solute/creatinine ratios. Prior to TVP treatment, urine output was correlated with body weight, urine osmolality/creatinine ratio, eGFR, urine morning osmolality, and 24-hour urine-calculated osmolality. After TVP treatment, urine output was correlated with body weight and eGFR, but not urine-calculated osmolality. A prediction model was constructed, showing that urine output was related to age, body weight, eGFR, and TVP dosage.
INTERNATIONAL UROLOGY AND NEPHROLOGY
(2023)
Article
Urology & Nephrology
Satoru Muto, Tadashi Okada, Yoshiyuki Shibasaki, Tatsuki Ibuki, Shigeo Horie
Summary: The study found that patients treated with tolvaptan had a smaller annual decline in estimated glomerular filtration rate (eGFR), indicating a sustained beneficial effect of tolvaptan on eGFR. Patients who received placebo in TEMPO 3:4 showed a significant slowing of eGFR decline after initiating tolvaptan in TEMPO-EXTJ.
CLINICAL AND EXPERIMENTAL NEPHROLOGY
(2021)
Article
Multidisciplinary Sciences
Kiyotaka Uchiyama, Chigusa Kitayama, Akane Yanai, Yoshitaka Ishibashi
Summary: The study showed that trichlormethiazide can significantly reduce urine volume and increase urinary osmolarity in ADPKD patients, as well as improve multiple HRQOL subscales, without significantly affecting renal function slope or plasma/urinary biomarkers.
SCIENTIFIC REPORTS
(2021)
Review
Nutrition & Dietetics
Lauren Pickel, Ioan-Andrei Iliuta, James Scholey, York Pei, Hoon-Ki Sung
Summary: Autosomal dominant polycystic kidney disease (ADPKD) is characterized by progressive growth of renal cysts and loss of functional nephrons. Evidence suggests that dietary interventions such as caloric restriction, intermittent fasting, and ketogenic diets have the potential to slow disease progression and confer metabolic benefits.
ADVANCES IN NUTRITION
(2022)
Review
Biochemistry & Molecular Biology
Claudio Ponticelli, Gabriella Moroni, Francesco Reggiani
Summary: Autosomal-Dominant Polycystic Kidney Disease (ADPKD) is a genetic disorder caused by mutations in PKD1 or PKD2 genes. The involvement of autophagy in ADPKD remains a subject of investigation, with potential implications on cyst formation and fibrosis. Autophagy inducers have shown promising results in preclinical studies and may provide a potential avenue for future investigations.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Review
Pharmacology & Pharmacy
Guangying Shao, Shuai Zhu, Baoxue Yang
Summary: ADPKD is a common hereditary kidney disease characterized by progressively enlarged cysts that destroy renal function, potentially leading to ESRD. Herbal medicines have shown potential in inhibiting cyst development and ADPKD progression, providing new insights for clinical therapeutic strategies.
FRONTIERS IN PHARMACOLOGY
(2021)
Article
Medicine, General & Internal
Li Zhou, Yan Tian, Liang Ma, Wen-Ge Li
Summary: The combination of tolvaptan and edoxaban treatment effectively delayed kidney function decline and eliminated edema caused by thromboembolism in an 80-year-old male patient with autosomal dominant polycystic kidney disease (ADPKD), chronic kidney disease, and other clinical disorders. A genetic variant c.10102G > A /p.D3368N in the PKD1 gene was identified through whole exome sequencing.
WORLD JOURNAL OF CLINICAL CASES
(2022)
Article
Medicine, General & Internal
Jin Liu, Xiaorui Yin, Hreedi Dev, Xianfu Luo, Jon D. D. Blumenfeld, Hanna Rennert, Martin R. R. Prince
Summary: This study investigates the association between autosomal dominant polycystic kidney disease (ADPKD) and pleural effusion. Pleural effusions were observed in 21% of ADPKD subjects compared to 8% in controls. In a subpopulation controlling for renal function, 25% of ADPKD subjects had pleural effusions compared to 5% of controls.
JOURNAL OF CLINICAL MEDICINE
(2023)
Review
Pediatrics
Iva Soric Hosman, Andrea Cvitkovic Roic, Margareta Fistrek Prlic, Ivana Vukovic Brinar, Lovro Lamot
Summary: Autosomal dominant polycystic kidney disease (ADPKD) is a leading cause of end-stage renal disease. Identification of easily measurable biomarkers for predicting disease progression is crucial for the development of targeted therapies. This review summarizes the research on serum and urine biomarkers for predicting ADPKD progression and response to therapy.
FRONTIERS IN PEDIATRICS
(2023)
Article
Urology & Nephrology
Jessica T. T. Camargo, Camilo A. Gonzalez, Lina Herrera, Nancy Yomayusa-Gonzalez, Milciades Ibanez, Ana M. M. Valbuena-Garcia, Lizbeth Acuna-Merchan
Summary: This study investigated the prevalence, geographical location, and ethnic groups of ADPKD patients undergoing dialysis or kidney transplant in Colombia between 2015 and 2019. The prevalence of ADPKD was lower compared to Europe and the US, and further genetic prevalence studies may be needed in some states with higher prevalence.
Article
Medicine, General & Internal
Alexander R. Chang, Bryn S. Moore, Jonathan Z. Luo, Gino Sartori, Brian Fang, Steven Jacobs, Yoosif Abdalla, Mohammed Taher, David J. Carey, William J. Triffo, Gurmukteshwar Singh, Tooraj Mirshahi
Summary: This study reveals substantial genetic and phenotypic variability in autosomal dominant polycystic kidney disease (ADPKD) among patients within a regional health system in the US. In addition to PKD1 and PKD2, LOF variants in IFT140, GANAB, and HNF1B were associated with ADPKD diagnosis. Patients with a family history of ADPKD had a higher yield for genetic determinants of the disease.
JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION
(2022)
Article
Transplantation
Sergio C. Lopez-Garcia, Mallory L. Downie, Ji Soo Kim, Olivia Boyer, Stephen B. Walsh, Tom Nijenhuis, Svetlana Papizh, Pallavi Yadav, Ben C. Reynolds, Stephane Decramer, Martine Besouw, Manel Perello Carrascosa, Claudio La Scola, Francesco Trepiccione, Gema Ariceta, Aurelie Hummel, Claire Dossier, John A. Sayer, Martin Konrad, Mandy G. Keijzer-Veen, Atif Awan, Biswanath Basu, Dominique Chauveau, Leire Madariaga, Linda Koster-Kamphuis, Monica Furlano, Miriam Zacchia, Pierluigi Marzuillo, Yincent Tse, Ismail Dursun, Ayse Seda Pinarbasi, Despoina Tramma, Ewout J. Hoorn, Ibrahim Gokce, Kathleen Nicholls, Loai A. Eid, Lisa Sartz, Michael Riordan, Nakysa Hooman, Nikoleta Printza, Olivier Bonny, Pedro Arango Sancho, Raphael Schild, Rajiv Sinha, Stefano Guarino, Victo Martinez Jimenez, Lidia Rodriguez Pena, Hendrica Belge, Olivier Devuyst, Tanja Wlodkowski, Francesco Emma, Elena Levtchenko, Nine V. A. M. Knoers, Daniel G. Bichet, Franz Schaefer, Robert Kleta, European NDI Consortium, Detlef Bockenhauer
Summary: The study of a large NDI cohort showed overall favorable outcomes with normal adult height and mild to moderate chronic kidney disease. However, lower educational achievement and the presence of urological and mental health problems in over half of the patients were noted.
NEPHROLOGY DIALYSIS TRANSPLANTATION
(2023)
Article
Genetics & Heredity
Sarah R. Senum, Ying (Sabrina) M. Li, Katherine A. Benson, Giancarlo Joli, Eric Olinger, Sravanthi Lavu, Charles D. Madsen, Adriana V. Gregory, Ruxandra Neatu, Timothy L. Kline, Marie -Pierre Audrezet, Patricia Outeda, Cherie B. Nau, Esther Meijer, Hamad Ali, Theodore I. Steinman, Michal Mrug, Paul J. Phelan, Terry J. Watnick, Dorien J. M. Peters, Albert C. M. Ong, Peter J. Conlon, Ronald D. Perrone, Emilie Cornec-Le Gall, Marie C. Hogan, Vicente E. Torres, John A. Saver, Peter C. Harris
Summary: This study identifies a link between the IFT140 gene and autosomal dominant polycystic kidney disease (ADPKD). The monoallelic variation of IFT140 is associated with mild PKD phenotype, while the biallelic variation is linked to a syndromic ciliopathy. The findings also suggest that the monoallelic IFT140 variation is relatively common among cystic kidney disease patients.
AMERICAN JOURNAL OF HUMAN GENETICS
(2022)
Article
Biochemistry & Molecular Biology
Patrick Krohn, Laura Rita Rega, Marianne Harvent, Beatrice Paola Festa, Anna Taranta, Alessandro Luciani, Joseph Dewulf, Alessio Cremonesi, Francesca Diomedi Camassei, James V. M. Hanson, Christina Gerth-Kahlert, Francesco Emma, Marine Berquez, Olivier Devuyst
Summary: Using CRISPR/Cas9 technology, we generated a Ctns knockout rat model, which recapitulates the features of cystinosis. This model provides an invaluable tool for studying the pathogenesis of cystinosis and accelerating drug discovery.
HUMAN MOLECULAR GENETICS
(2022)
Editorial Material
Urology & Nephrology
Eric Olinger, Ian Wilson, Olivier Devuyst, John A. Sayer
KIDNEY INTERNATIONAL
(2022)
Article
Transplantation
Maartje F. A. Verploegen, Rosa Vargas-Poussou, Stephen B. Walsh, Harika Alpay, Atefeh Amouzegar, Gema Ariceta, Bahriye Atmis, Justine Bacchetta, Peter Barany, Stephanie Baron, Umut Selda Bayrakci, Hendrica Belge, Martine Besouw, Anne Blanchard, Arend Bokenkamp, Olivia Boyer, Kathrin Burgmaier, Lorenzo A. Calo, Stephane Decramer, Olivier Devuyst, Maria van Dyck, Pietro Manuel Ferraro, Marc Fila, Telma Francisco, Gian Marco Ghiggeri, Leire Gondra, Stefano Guarino, Nakysa Hooman, Ewout J. Hoorn, Pascal Houillier, Konstantinos Kamperis, Jameela A. Kari, Martin Konrad, Elena Levtchenko, Laura Lucchetti, Francesca Lugani, Pierluigi Marzuillo, Barian Mohidin, Thomas J. Neuhaus, Abdaldafae Osman, Svetlana Papizh, Manel Perello, Maarten B. Rookmaaker, Valerie Said Conti, Fernando Santos, Ghalia Sawaf, Erkin Serdaroglu, Maria Szczepanska, Francesca Taroni, Rezan Topaloglu, Francesco Trepiccione, Enrico Vidal, Elizabeth R. Wan, Lutz Weber, Zeynep Yuruk Yildirim, Selcuk Yuksel, Galia Zlatanova, Detlef Bockenhauer, Francesco Emma, Tom Nijenhuis
Summary: This study evaluated PTH and phosphate homeostasis in a large cohort of patients with salt-losing tubulopathies. The results showed that hyperparathyroidism is frequent in patients with Bartter syndrome type I and II, while low serum phosphate is observed in a significant number of patients with Bartter and Gitelman syndrome and appears to be associated with renal phosphate wasting.
NEPHROLOGY DIALYSIS TRANSPLANTATION
(2022)
Article
Transplantation
Roman-Ulrich Mueller, A. Lianne Messchendorp, Henrik Birn, Giovambattista Capasso, Emilie Cornec-Le Gall, Olivier Devuyst, Albertien van Eerde, Patrick Guirchoun, Tess Harris, Ewout J. Hoorn, Nine V. A. M. Knoers, Uwe Korst, Djalila Mekahli, Yannick Le Meur, Tom Nijenhuis, Albert C. M. Ong, John A. Sayer, Franz Schaefer, Aude Servais, Vladimir Tesar, Roser Torra, Stephen B. Walsh, Ron T. Gansevoort
Summary: Approval of tolvaptan for ADPKD has transformed patient care and shifted focus from general measures to targeting disease-specific mechanisms. Evidence-based approaches are crucial due to long-term nature of treatment and potential side effects.
NEPHROLOGY DIALYSIS TRANSPLANTATION
(2022)
Article
Urology & Nephrology
Christina B. Joseph, Marta Mariniello, Ayumi Yoshifuji, Guglielmo Schiano, Jennifer Lake, Jonathan Marten, Anne Richmond, Jennifer E. Huffman, Archie Campbell, Sarah E. Harris, Stephan Troyanov, Massimiliano Cocca, Antonietta Robino, Sebastien Theriault, Kai-Uwe Eckardt, Matthias Wuttke, Yurong Cheng, Tanguy Corre, Ivana Kolcic, Corrinda Black, Vanessa Bruat, Maria Pina Concas, Cinzia Sala, Stefanie Aeschbacher, Franz Schaefer, Sven Bergmann, Harry Campbell, Matthias Olden, Ozren Polasek, David J. Porteous, Ian J. Deary, Francois Madore, Philip Awadalla, Giorgia Girotto, Sheila Ulivi, David Conen, Elke Wuehl, Eric Olinger, James F. Wilson, Murielle Bochud, Anna Koettgen, Caroline Hayward, Olivier Devuyst
Summary: This study identifies novel gene loci, KRT40 and WDR72, associated with urinary uromodulin. Functional studies show that KRT40 affects the processing and excretion of uromodulin in kidney cells. This research provides new insights into the biology of uromodulin, keratins, and the UMOD-PDILT locus's influence on kidney function.
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
(2022)
Article
Urology & Nephrology
Anna Koettgen, Emilie Cornec-Le Gall, Jan Halbritter, Krzysztof Kiryluk, Andrew J. Mallett, Rulan S. Parekh, Hila Milo Rasouly, Matthew G. Sampson, Adrienne Tin, Corinne Antignac, Elisabet Ars, Carsten Bergmann, Anthony J. Bleyer, Detlef Bockenhauer, Olivier Devuyst, Jose C. Florez, Kevin J. Fowler, Nora Franceschini, Masafumi Fukagawa, Daniel P. Gale, Rasheed A. Gbadegesin, David B. Goldstein, Morgan E. Grams, Anna Greka, Oliver Gross, Lisa M. Guay-Woodford, Peter C. Harris, Julia Hoefele, Adriana M. Hung, Nine V. A. M. Knoers, Jeffrey B. Kopp, Matthias Kretzler, Matthew B. Lanktree, Beata S. Lipska-Zietkiewicz, Kathleen Nicholls, Kandai Nozu, Akinlolu Ojo, Afshin Parsa, Cristian Pattaro, York Pei, Martin R. Pollak, Eugene P. Rhee, Simone Sanna-Cherchi, Judy Savige, John A. Sayer, Francesco Scolari, John R. Sedor, Xueling Sim, Stefan Somlo, Katalin Susztak, Bamidele O. Tayo, Roser Torra, Albertien M. van Eerde, Andre Weinstock, Cheryl A. Winkler, Matthias Wuttke, Hong Zhang, Jennifer M. King, Michael Cheung, Michel Jadoul, Wolfgang C. Winkelmayer, Ali G. Gharavi
Summary: Genetic research plays an important role in the clinical management of kidney diseases, providing insights for diagnosis, treatment selection, and family counseling. However, accurate interpretation of genetic data remains a challenge, highlighting the need to enhance genetic literacy among healthcare professionals and develop guidelines for testing and treatment to optimize the use of genetics in nephrology.
KIDNEY INTERNATIONAL
(2022)
Editorial Material
Urology & Nephrology
Marine Berquez, Olivier Devuyst
KIDNEY INTERNATIONAL
(2022)
Article
Transplantation
Helena Baechle, Peggy Sekula, Pascal Schlosser, Inga Steinbrenner, Yurong Cheng, Fruzsina Kotsis, Heike Meiselbach, Helena Stockmann, Sebastian Schoenherr, Kai-Uwe Eckardt, Olivier Devuyst, Juergen Scherberich, Anna Koettgen, Ulla T. Schultheiss
Summary: This study aimed to explore metabolites associated with uromodulin concentrations and evaluate their association with the progression of chronic kidney disease (CKD) and adverse kidney events. The study found that higher levels of urinary and serum uromodulin were associated with a lower risk of adverse kidney events, suggesting a potential protective role of functional nephrons in CKD outcomes.
NEPHROLOGY DIALYSIS TRANSPLANTATION
(2023)
Article
Urology & Nephrology
Olivier Devuyst, Krzysztof Kiryluk
KIDNEY INTERNATIONAL
(2023)
Article
Transplantation
Ines P. D. Costa, Nicolas Hautem, Gugliemo Schiano, Shinichi Uchida, Tomoya Nishino, Olivier Devuyst
Summary: The study reveals that AQP1 and AQP7 are abundantly expressed in the peritoneal membrane. While AQP1 facilitates water transport during peritoneal dialysis, the role of AQP7 in glycerol transport during fasting is unknown. The findings show that fasting increases the expression of AQP1 and AQP7 in the peritoneum, leading to structural and functional changes that improve fluid removal.
NEPHROLOGY DIALYSIS TRANSPLANTATION
(2023)
Article
Urology & Nephrology
Brian E. Jones, Yaman G. Mkhaimer, Laureano J. Rangel, Maroun Chedid, Phillip J. Schulte, Alaa K. Mohamed, Reem M. Neal, Dalia Zubidat, Amarjyot K. Randhawa, Christian Hanna, Adriana Gregory, Timothy L. Kline, Ziad M. Zoghby, Sarah R. Senum, Peter C. Harris, Vicente E. Torres, Fouad T. Chebib
Summary: The study found that asymptomatic pyuria (AP) is associated with kidney failure and faster decline in kidney function, serving as a prognostic biomarker for the rate of disease progression in autosomal dominant polycystic kidney disease (ADPKD).
Article
Urology & Nephrology
Maroun Chedid, Christian Hanna, Ghaith Zaatari, Yaman Mkhaimer, Prajwal Reddy, Laureano Rangel, Dalia Zubidat, Daniel-Hasan Nabil Kaidbay, Maria V. Irazabal, Heidi M. Connolly, Sarah R. Senum, Charles D. Madsen, Marie C. Hogan, Ziad Zoghby, Peter C. Harris, Vicente E. Torres, Jonathan N. Johnson, Fouad T. Chebib
Summary: This study observed a higher frequency of CHD in ADPKD patients compared to the general population. Although only PKD1 pathogenic variants were identified, further research is needed to confirm this association and understand the role of polycystins in cardiac and vascular development.
AMERICAN JOURNAL OF NEPHROLOGY
(2022)
Letter
Medicine, General & Internal
Johann Morelle, Simon Davies, Olivier Devuyst
NEW ENGLAND JOURNAL OF MEDICINE
(2022)