Editorial Material
Radiology, Nuclear Medicine & Medical Imaging
Yuka Yamamoto, Katsuya Mitamura, Takashi Norikane, Kengo Fujimoto, Yasukage Takami, Yoshihiro Nishiyama
Summary: A 38-year-old woman diagnosed with Gitelman syndrome displayed an abnormal FDG biodistribution pattern on FDG PET/CT, resembling a high insulin state despite normal glucose levels and very low insulin levels.
CLINICAL NUCLEAR MEDICINE
(2021)
Review
Urology & Nephrology
Yeji Ham, Heather Mack, Deb Colville, Philip Harraka, Judy Savige
Summary: Gitelman syndrome is a rare genetic disorder characterized by hypokalemia, hypomagnesemia, and low blood pressure. Diagnosis is often missed but can be indicated by ectopic calcification in the eyes. Treatment involves correcting potassium and magnesium levels to prevent complications.
CLINICAL KIDNEY JOURNAL
(2021)
Article
Endocrinology & Metabolism
Lanping Jiang, Xiaoyan Peng, Bingbin Zhao, Lei Zhang, Lubin Xu, Xuemei Li, Min Nie, Limeng Chen
Summary: This study aimed to identify frequent mutations in Chinese Gitelman syndrome (GS) patients, predict the three-dimensional structure change of hNCC, and test the activity of these mutations in vitro and in vivo. The results showed that certain mutations led to alterations in protein structure and function.
ENDOCRINE CONNECTIONS
(2022)
Article
Medical Laboratory Technology
Se Jin Park, Ju Young Kim, Hye-Jeong Ahn, Haing-Woon Baik, Ju Hyung Kang
Summary: This study investigated the clinical and genetic manifestations in a 7-year-old boy with Osteogenesis imperfecta (OI) and his family members, finding that the OI-related genetic mutation in the patient was inherited from his mother while the GS-related genetic mutations were inherited from both parents. It is the first study to identify compound heterozygous variants in the SLC12A3 gene and a novel mutation in the COL1A1 gene in patients with OI and GS, highlighting the importance of genetic analysis in accurately diagnosing these conditions.
CLINICA CHIMICA ACTA
(2021)
Article
Medicine, General & Internal
Jing Ying, Haixia Wu, Ruizhong Zhang, Pengmei Wu, Fengxuan Sui, Zilong Li
Summary: This case report describes a 7-year-old boy with Gilbert syndrome. The patient presented with poor appetite and slow growth since the age of 3, and was diagnosed with hypokalemia one year ago. Gene sequencing confirmed the mutation of SLC12A3 gene associated with Gilbert syndrome. Treatment with potassium and magnesium supplementation, as well as spironolactone, resulted in significant improvement of symptoms.
Article
Multidisciplinary Sciences
Atsushi Kondo, China Nagano, Shinya Ishiko, Takashi Omori, Yuya Aoto, Rini Rossanti, Nana Sakakibara, Tomoko Horinouchi, Tomohiko Yamamura, Sadayuki Nagai, Eri Okada, Yuko Shima, Koichi Nakanishi, Takeshi Ninchoji, Hiroshi Kaito, Hiroki Takeda, Hiroaki Nagase, Naoya Morisada, Kazumoto Iijima, Kandai Nozu
Summary: Gitelman syndrome is an autosomal recessive disorder with a higher prevalence in the Japanese population than previously thought, and some other ethnicities also show a higher prevalence than expected.
SCIENTIFIC REPORTS
(2021)
Article
Biochemistry & Molecular Biology
Viviana Palazzo, Valentina Raglianti, Samuela Landini, Luigi Cirillo, Carmela Errichiello, Elisa Buti, Rosangela Artuso, Lucia Tiberi, Debora Vergani, Elia Dirupo, Paola Romagnani, Benedetta Mazzinghi, Francesca Becherucci
Summary: This study assessed the diagnostic rate of whole-exome sequencing (WES) in Bartter and Gitelman syndromes and explored genotype-phenotype correlations. The findings improve the understanding of differential diagnosis and genotype-phenotype correlation in these disorders.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Rheumatology
Emile Chotard, Anne Blanchard, Agnes Ostertag, Augustin Latourte, Gilles Gailly, Vincent Frochot, Frederic Liote, Valerie Bousson, Pascal Richette, Thomas Bardin, Rosa Vargas-Poussou, Hang Korng Ea
Summary: The study investigated the prevalence, distribution patterns, clinical phenotypes, and risk factors for chondrocalcinosis in 57 patients with Gitelman syndrome. It was found that a majority of patients had chondrocalcinosis, with the cervical spine being the most affected area. Low serum magnesium levels and age were identified as independent factors associated with chondrocalcinosis.
Article
Genetics & Heredity
Hiromi Aoi, Takeshi Mizuguchi, Toshifumi Suzuki, Shintaro Makino, Yuka Yamamoto, Jun Takeda, Yojiro Maruyama, Rie Seyama, Shiori Takeuchi, Yuri Uchiyama, Yoshiteru Azuma, Kohei Hamanaka, Atsushi Fujita, Eriko Koshimizu, Satoko Miyatake, Satomi Mitsuhashi, Atsushi Takata, Noriko Miyake, Satoru Takeda, Atsuo Itakura, Naomichi Matsumoto
Summary: This study evaluated the efficacy of whole exome sequencing (WES) for genetic diagnosis in cases with fetal structural anomalies detected by ultrasonography. The study found that fetal phenotype alone could identify potential genetic variants, but combining postnatal phenotype information could improve diagnostic rates. It emphasizes the importance of detailed phenotyping for better diagnostic rates in WES analysis.
JOURNAL OF HUMAN GENETICS
(2021)
Article
Oncology
Zongyue Li, Huixiao Wu, Shuoshuo Wei, Moke Liu, Yingzhou Shi, Mengzhu Li, Ning Wang, Li Fang, Bo Xiang, Ling Gao, Chao Xu, Jiajun Zhao
Summary: In this study, the pathogenicity of the R158Q and G212S variants of the SLC12A3 gene was evaluated through bioinformatic, expression, and localization analysis. The findings confirmed that these variants are pathogenic and contribute to the development of Gitelman syndrome. Additionally, the establishment of a mutant mouse model further demonstrated the role of Ncc dysfunction in the disease phenotype.
FRONTIERS OF MEDICINE
(2022)
Article
Urology & Nephrology
Daan Viering, Karl P. Schlingmann, Marguerite Hureaux, Tom Nijenhuis, Andrew Mallett, Melanie M. Y. Chan, Andre van Beek, Albertien M. van Eerde, Jean-Marie Coulibaly, Marion Vallet, Stephane Decramer, Solenne Pelletier, Gunter Klaus, Martin Komhoff, Rolf Beetz, Chirag Patel, Mohan Shenoy, Eric J. Steenbergen, Glenn Anderson, Ernie M. H. F. Bongers, Carsten Bergmann, Daan Panneman, Richard J. Rodenburg, Robert Kleta, Pascal Houillier, Martin Konrad, Rosa Vargas-Poussou, Nine V. A. M. Knoers, Detlef Bockenhauer, Jeroen H. F. de Baaij
Summary: This study found that mitochondrial DNA variants in the MT-TF and MT-TI genes can cause symptoms similar to Gitelman syndrome. Genetic investigation of mitochondrial DNA should be considered in patients with unexplained Gitelman syndrome-like tubulopathies.
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
(2022)
Review
Biochemistry & Molecular Biology
Laura Nunez-Gonzalez, Noa Carrera, Miguel A. Garcia-Gonzalez
Summary: Gitelman and Bartter syndromes are rare inherited diseases that result in electrolyte imbalances, especially in the nephron. Both syndromes share many similar clinical symptoms and the main treatment involves electrolyte supplementation and dietary changes.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Urology & Nephrology
Daan H. H. M. Viering, Marguerite Hureaux, Kornelia Neveling, Femke Latta, Michael Kwint, Anne Blanchard, Martin Konrad, Rene J. M. Bindels, Karl-Peter Schlingmann, Rosa Vargas-Poussou, Jeroen H. F. de Baaij
Summary: This study identified intronic pathogenic variants in Gitelman syndrome through long-read sequencing, which can provide a higher accuracy and feasibility for the diagnosis of this disease.
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
(2023)
Article
Urology & Nephrology
Xiafei Guo, Shanshen Yu, Jia Sun, Lijun Mou
Summary: This study reported a case of GS overlapping NS related to PLA2R-associated MN for the first time. Renal biopsy revealed idiopathic MN. Treatment with tacrolimus showed significant improvement and remission of NS.
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
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
Pathology
Aurelien Morini, Tom Drossart, Marc-Olivier Timsit, Mathilde Sibony, Viorel Vasiliu, Anne-Paule Gimenez-Roqueplo, Judith Favier, Cecile Badoual, Arnaud Mejean, Nelly Burnichon, Virginie Verkarre
Summary: The major role of the mTOR pathway in the tumorigenesis of LOT, presence of genetic variations in mTOR pathway related genes, absence of FOXI1 expression as a distinguishing factor, and the potential for targeted therapy in cases of metastasis were highlighted in the study.LOT was considered as a distinct entity with a favorable clinical outcome.
Article
Geriatrics & Gerontology
Cedric Villain, Marie Metzger, Sophie Liabeuf, Aghiles Hamroun, Solene Laville, Nicolas Mansencal, Christian Combe, Denis Fouque, Luc Frimat, Christian Jacquelinet, Maurice Laville, Carole Ayav, Serge Briancon, Roberto Pecoits-Filho, Thierry Hannedouche, Benedicte Stengel, Ziad A. Massy
Summary: This study suggests that aging does not appear to modify the beneficial effects of RASi on major CKD outcomes or their potential adverse effects.
JOURNAL OF THE AMERICAN MEDICAL DIRECTORS ASSOCIATION
(2022)
Article
Transplantation
Aghiles Hamroun, Elodie Speyer, Carole Ayav, Christian Combe, Denis Fouque, Christian Jacquelinet, Maurice Laville, Sophie Liabeuf, Ziad A. Massy, Roberto Pecoits-Filho, Bruce M. Robinson, Francois Glowacki, Benedicte Stengel, Luc Frimat
Summary: Although conservative care is considered an alternative to kidney replacement therapy for kidney failure management, it is rarely offered to elderly patients, most of whom report they were not informed of this option. The lack of a person or team responsible for conservative care and unclear information appear to be key barriers to its implementation.
NEPHROLOGY DIALYSIS TRANSPLANTATION
(2022)
Editorial Material
Transplantation
Alice Doreille, Raphael Godefroy, Jonas Martzloff, Clement Deltombe, Yosu Luque, Laurent Mesnard, Marc Hazzan, Michel Tsimaratos, Eric Rondeau, Maryvonne Hourmant, Bruno Moulin, Thomas Robert, Cedric Rafat
NEPHROLOGY DIALYSIS TRANSPLANTATION
(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)
Biographical-Item
Urology & Nephrology
Yves Pirson, Olivier Devuyst
KIDNEY INTERNATIONAL
(2022)
Letter
Urology & Nephrology
Frank Bridoux, Nelson Leung, Jean Paul Fermand
KIDNEY INTERNATIONAL
(2022)
Editorial Material
Urology & Nephrology
P. Toby Coates, Germaine Wong, Brad H. Rovin, Pierre Ronco
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
Multidisciplinary Sciences
Henrik Dimke, Camille Griveau, Wung-Man Evelyne Ling, Gaelle Brideau, Lydie Cheval, Pravina Muthan, Dominik Mueller, Amr Al-Shebel, Pascal Houillier, Caroline Prot-Bertoye
Summary: The kidney plays a critical role in maintaining mineral balance in the body. Dysregulation of calcium and magnesium reabsorption in the renal tubules can lead to familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC), which is characterized by excessive wasting of calcium and magnesium. This study investigated the localization of claudin-19 (CLDN19), a protein involved in mineral reabsorption, in the kidneys and found that it is primarily located in the basolateral membrane of the renal tubules. Additionally, the study showed that CLDN19 interacts with claudin-16 (CLDN16) to regulate permeability in the tubules. These findings provide insights into the pathophysiology of FHHNC and highlight the importance of CLDN19 in maintaining mineral homeostasis in the kidney.
ANNALS OF THE NEW YORK ACADEMY OF SCIENCES
(2023)
Article
Urology & Nephrology
Marie Sophie Meuleman, Paula Vieira-Martins, Carine El Sissy, Vincent Audard, Veronique Baudouin, Dominique Bertrand, Frank Bridoux, Ferielle Louillet, Claire Dossier, Vincent Esnault, Noemie Jourde-Chiche, Alexandre Karras, Marie-Pascale Morin, Francois Provot, Philippe Remy, David Ribes, Caroline Rousset-Rouviere, Aude Servais, Eric Thervet, Leila Tricot, Mohamad Zaidan, Alain Wynckel, Julien Zuber, Moglie Le Quintrec, Veronique Fremeaux-Bacchi, Sophie Chauvet
Summary: A study found that 17% of C3 glomerulopathy/Ig-MPGN cases were associated with rare variants in the CFH, CFI, or C3 genes. These variants were linked to poor kidney outcomes.
CLINICAL JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
(2023)