Article
Genetics & Heredity
Yasuo Suzuki, Kan Katayama, Ryosuke Saiki, Yosuke Hirabayashi, Tomohiro Murata, Eiji Ishikawa, Masaaki Ito, Kaoru Dohi
Summary: This study analyzed the genes of 50 ADPKD patients and identified mutations in PKD1, PKD2, and GANAB genes, which can assist in diagnosis and treatment of the disease.
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
Genetics & Heredity
Enrico Ambrosini, Francesca Montanari, Carlotta Pia Cristalli, Irene Capelli, Claudio La Scola, Andrea Pasini, Claudio Graziano
Summary: Autosomal dominant polycystic kidney disease (ADPKD) is a common genetic cause of kidney failure, and rare severe presentations are associated with reduced gene dosage. We identified biallelic PKD1 variants using next-generation sequencing in two unrelated individuals with early onset cystic kidney disease. Our analysis of literature estimated a minimal allele frequency of 1/130 for PKD1 hypomorphic variants. This information could guide genetic counseling, but the clinical impact of rare and previously unreported PKD1 missense variants remains challenging.
Article
Genetics & Heredity
Mayssa Abdelwahed, Pascale Hilbert, Asma Ahmed, Mouna Dey, Salem Bouomrani, Hassen Kamoun, Leila Ammar-Keskes, Neila Belguith
Summary: A high prevalence of genetic kidney disease has been detected in Tunisia, and this study provides important clinical and genetic information. Autosomal dominant polycystic kidney disease (ADPKD) is a major cause of kidney-related morbidity and mortality in Tunisia. The study analyzes the clinical and genetic characteristics of a cohort of Tunisian patients with ADPKD, providing insights for early diagnosis and management.
Review
Medicine, General & Internal
Yun Kyu Oh, Hayne Cho Park, Hyunjin Ryu, Yong-Chul Kim, Kook-Hwan Oh
Summary: ADPKD is the most common hereditary kidney disease characterized by cyst growth in the kidneys. Genes PKD1 and PKD2 are related to the disease, and predictive tests and clinical factors for disease progression have been established. Ongoing studies in Korean ADPKD patients aim to further understand the genetic and clinical characteristics.
KOREAN JOURNAL OF INTERNAL MEDICINE
(2021)
Article
Urology & Nephrology
Ryohei Miyamoto, Akinari Sekine, Takuya Fujimaru, Tatsuya Suwabe, Hiroki Mizuno, Eiko Hasegawa, Masayuki Yamanouchi, Motoko Chiga, Takayasu Mori, Eisei Sohara, Shinichi Uchida, Naoki Sawa, Yoshifumi Ubara, Junichi Hoshino
Summary: This study revealed a significantly higher prevalence of mitral regurgitation in patients with the PKD1 genotype compared to those with the PKD2 or non-PKD1, 2 genotypes. Physicians may need to conduct echocardiography earlier and more frequently in ADPKD patients with the PKD1 genotype and control fluid volume and blood pressure more strictly in order to prevent future cardiac events.
Article
Biochemistry & Molecular Biology
Tomoki Kimura, Haruna Kawano, Satoru Muto, Nobuhito Muramoto, Toshiaki Takano, Yan Lu, Hidetaka Eguchi, Hiroo Wada, Yasushi Okazaki, Hisamitsu Ide, Shigeo Horie
Summary: This study investigated the prognostic utility of genetic mutations in predicting renal function outcomes in Japanese patients with autosomal dominant polycystic kidney disease (ADPKD). The results showed that PKD1 mutation is a biomarker for predicting renal prognosis in ADPKD patients.
Article
Urology & Nephrology
Hamad Ali, Medhat Naim, Sarah R. Senum, Ali AlSahow, Yousif Bahbahani, Mohamed Abu-Farha, Jehad Abubaker, Anwar Mohammad, Adel Al-Hunayan, Akram M. Asbeutah, Mohamed Zayed, Sriraman Devarajan, Naser Hussain, Sumi Elsa John, Arshad Channanath, Thangavel Alphonse Thanaraj, Mohammad Al-Ali, Mustafa AlMousawi, Fahd Al-Mulla, Peter C. Harris
Summary: This study describes the genetic landscape of autosomal dominant polycystic kidney disease (ADPKD) in Kuwait, revealing the genetic heterogeneity and wide phenotypic spectrum of the disease. ADPKD genetic testing could improve patient care, but the hurdle of genetically unsolved cases needs to be overcome.
CLINICAL KIDNEY JOURNAL
(2023)
Article
Urology & Nephrology
Adrian Cordido, Laura Nunez-Gonzalez, Julio M. Martinez-Moreno, Olaya Lamas-Gonzalez, Laura Rodriguez-Osorio, Maria Vanessa Perez-Gomez, Diego Martin-Sanchez, Patricia Outeda, Marco Chiaravalli, Terry Watnick, Alessandra Boletta, Candido Diaz, Angel Carracedo, Ana B. Sanz, Alberto Ortiz, Miguel A. Garcia-Gonzalez
Summary: The TWEAK signaling pathway plays a crucial role in cystogenesis and cystic growth in ADPKD. High levels of TWEAK and Fn14 were observed in cysts from mouse ADPKD models and in urine/cystic fluid from ADPKD patients. Administration of TWEAK induced cystogenesis and worsened the phenotype, while anti-TWEAK antibodies slowed disease progression and improved outcomes.
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
(2021)
Article
Multidisciplinary Sciences
Yoshiharu Muto, Eryn E. Dixon, Yasuhiro Yoshimura, Haojia Wu, Kohei Omachi, Andrew J. King, Eric N. Olson, Marvin G. Gunawan, Jay J. Kuo, Jennifer Cox, Jeffrey H. Miner, Stephen L. Seliger, Owen M. Woodward, Paul A. Welling, Terry J. Watnick, Benjamin D. Humphreys, Nicolas Ledru, Parker C. Wilson
Summary: This study used single cell multiomic analysis to investigate ADPKD and identified cellular heterogeneity as well as signaling pathways associated with disease progression. Additionally, a novel marker, GPRC5A, was discovered and a regulatory enhancer controlling its expression was validated.
NATURE COMMUNICATIONS
(2022)
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
Urology & Nephrology
Tomofumi Moriyama, Yosuke Nakayama, Mikiko Soejima, Yunosuke Yokota, Kanji Ota, Sakuya Ito, Goh Kodama, Nao Nakamura, Yuka Kurokawa, Junko Yano, Utako Ueda, Yoshimi Takamiya, Yusuke Kaida, Takuma Hazama, Ryo Shibata, Yoshiro Koda, Kei Fukami
Summary: The study found that after one year of tolvaptan treatment, ADPKD patients showed significant improvement in total kidney volume regardless of the gene mutation type, but there was no significant change in the estimated glomerular filtration rate.
CLINICAL AND EXPERIMENTAL NEPHROLOGY
(2021)
Article
Urology & Nephrology
Zhengmao Zhang, Hanwen Bai, Jon Blumenfeld, Andrew B. Ramnauth, Irina Barash, Martin Prince, Adrian Y. Tan, Alber Michaeel, Genyan Liu, Ines Chicos, Lior Rennert, Stavros Giannakopoulos, Karen Larbi, Stuart Hughes, Steven P. Salvatore, Brian D. Robinson, Sandip Kapur, Hanna Rennert
Summary: The study revealed pathogenic germline and somatic mutations of PKD1/2 in kidney cyst epithelium of ADPKD patients, supporting a cellular recessive mechanism for cystogenesis.
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
(2021)
Article
Genetics & Heredity
Dechao Xu, Rongrong Bian, Suxin Tuo, Xuezhen Li, Jing Chen, Xiaohong Xing, Yunhui Lu, Lijun Sun, Xiaojing Tang, Shengqiang Yu, Zhiguo Mao, Yiyi Ma, Changlin Mei
Summary: This study identified 37 PKD2 gene variants, with 11 being newly discovered. Chinese ADPKD patients with PKD2 variants often present with liver cysts, hypertension, and nephrolithiasis, and some patients already have significant renal impairment.
Article
Medical Laboratory Technology
Hyerin Kim, Hyung-Hoi Kim, Chulhun L. Chang, Sang Heon Song, Namhee Kim
Summary: A study on genetic analysis of 26 patients with ADPKD identified 19 variants, including 18 PKD1 variants. The multigene panel test is a comprehensive tool for genetic diagnosis of ADPKD, enabling the identification of clinically significant novel variants and confirmation of the diagnosis.
LABORATORY MEDICINE
(2021)
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
Surgery
Hannah Kaminski, Nassim Kamar, Olivier Thaunat, Nicolas Bouvier, Sophie Caillard, Isabelle Garrigue, Dany Anglicheau, Jean-Philippe Rerolle, Yannick Le Meur, Antoine Durrbach, Thomas Bachelet, Helene Savel, Roxane Coueron, Jonathan Visentin, Arnaud Del Bello, Isabelle Pellegrin, Julie Dechanet-Merville, Pierre Merville, Rodolphe Thiebaut, Lionel Couzi
Summary: This study found that everolimus can decrease the incidence of CMV DNAemia and disease in CMV seropositive solid organ transplant recipients.
AMERICAN JOURNAL OF 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
Urology & Nephrology
Hamad Ali, Medhat Naim, Sarah R. Senum, Ali AlSahow, Yousif Bahbahani, Mohamed Abu-Farha, Jehad Abubaker, Anwar Mohammad, Adel Al-Hunayan, Akram M. Asbeutah, Mohamed Zayed, Sriraman Devarajan, Naser Hussain, Sumi Elsa John, Arshad Channanath, Thangavel Alphonse Thanaraj, Mohammad Al-Ali, Mustafa AlMousawi, Fahd Al-Mulla, Peter C. Harris
Summary: This study describes the genetic landscape of autosomal dominant polycystic kidney disease (ADPKD) in Kuwait, revealing the genetic heterogeneity and wide phenotypic spectrum of the disease. ADPKD genetic testing could improve patient care, but the hurdle of genetically unsolved cases needs to be overcome.
CLINICAL KIDNEY JOURNAL
(2023)
Article
Surgery
Marie Courbebaisse, Aurelie Bourmaud, Jean-Claude Souberbielle, Rebecca Sberro-Soussan, Valerie Moal, Yannick Le Meur, Nassim Kamar, Laetitia Albano, Antoine Thierry, Jacques Dantal, Clement Danthu, Karine Moreau, Emmanuel Morelon, Anne-Elisabeth Heng, Dominique Bertrand, Nadia Arzouk, Peggy Perrin, Marie-Pascale Morin, Philippe Rieu, Claire Presne, Philippe Grimbert, Didier Ducloux, Matthias Buchler, Moglie Le Quintrec, Nacera Ouali, Vincent Pernin, Nicolas Bouvier, Antoine Durrbach, Eric Alamartine, Christine Randoux, Virginie Besson, Marc Hazzan, Justine Pages, Sandra Colas, Marie-Liesse Piketty, Gerard Friedlander, Dominique Prie, Corinne Alberti, Eric Thervet
Summary: Vitamin D sufficiency is associated with reduced risk of complications such as fractures, diabetes, cardiovascular events, and cancers after renal transplantation. However, a study called VITALE found that high-dose cholecalciferol supplementation does not reduce extraskeletal complications in kidney transplant recipients.
AMERICAN JOURNAL OF TRANSPLANTATION
(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
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
Medicine, Research & Experimental
Yannick Le Meur, Emmanuel Nowak, Benoit Barrou, Antoine Thierry, Lionel Badet, Matthias Buchler, Jean-Philippe Rerolle, Leonard Golbin, Agnes Duveau, Jacques Dantal, Pierre Merville, Nassim Kamar, Leila Demini, Franck Zal
Summary: Preventing ischemia-reperfusion injury (IRI) is crucial in kidney transplantation, especially for ECD recipients. The use of an oxygen carrier, HEMO2life (R), as an additive to preservation solution may be beneficial. The OxyOp2 trial aims to determine the efficacy of HEMO2life (R) for organ preservation in a large population of kidney grafts.
Article
Urology & Nephrology
Laura R. Claus, Chuan Chen, Jennifer Stallworth, Joshua L. Turner, Gisela G. Slaats, Alexandra L. Hawks, Holly Mabillard, Sarah R. Senum, Sujata Srikanth, Heather Flanagan-Steet, Raymond J. Louie, Josh Silver, Jordan Lerner-Ellis, Chantal Morel, Chloe Mighton, Frank Sleutels, Marjon van Slegtenhorst, Tjakko van Ham, Alice S. Brooks, Eiske M. Dorresteijn, Tahsin Stefan Barakat, Karin Dahan, Nathalie Demoulin, Eric Jean Goffin, Eric Olinger, Martin Larsen, Jens Michael Hertz, Marc R. Lilien, Lena Obeidova, Tomas Seeman, Hillarey K. Stone, Larissa Kerecuk, Mihai Gurgu, Fjodor A. Yousef Yengej, Carola M. E. Ammerlaan, Maarten B. Rookmaaker, Christian Hanna, R. Curtis Rogers, Karen Duran, Edith Peters, John A. Sayer, Gijs van Haaften, Peter C. Harris, Kun Ling, Jennifer M. Mason, Albertien M. van Eerde, Richard Steet
Summary: This study identifies NEK8 as a disease gene for autosomal dominant polycystic kidney disease (ADPKD) and suggests that specific heterozygous missense variants in the NEK8 kinase domain have a dominant-negative effect on the disease.
KIDNEY INTERNATIONAL
(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)