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
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
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
Djalila Mekahli, Lisa M. Guay-Woodford, Melissa A. Cadnapaphornchai, Larry A. Greenbaum, Mieczyslaw Litwin, Tomas Seeman, Ann Dandurand, Lily Shi, Kimberly Sikes, Susan E. Shoaf, Franz Schaefer
Summary: This study evaluated the safety and efficacy of Tolvaptan in children/adolescents with ADPKD. The results showed that Tolvaptan effectively inhibited antidiuretic hormone activity and reduced kidney volume increase. Adverse events were manageable and quality of life remained stable.
CLINICAL JOURNAL OF THE AMERICAN SOCIETY OF 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
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
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)
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
Multidisciplinary Sciences
Katharina Hopp, Victoria A. Catenacci, Nidhi Dwivedi, Timothy L. Kline, Wei Wang, Zhiying You, Dustin T. Nguyen, Kristen Bing, Bhavya Poudyal, Ginger C. Johnson, Matthew R. Jackman, Marsha Miller, Cortney N. Steele, Natalie J. Serkova, Paul S. MacLean, Raphael A. Nemenoff, Berenice Gitomer, Michel Chonchol, Kristen L. Nowak
Summary: This study demonstrates that both daily caloric restriction (DCR) and intermittent fasting (IMF) can lead to significant weight loss and slow cyst growth in ADPKD patients. DCR has better efficacy in weight loss compared to IMF, and patients showed higher adherence and tolerability to DCR.
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
Transplantation
Patrizia Lombari, Massimo Mallardo, Oriana Petrazzuolo, Joseph Amruthraj Nagoth, Giuseppe Fiume, Roberto Scanni, Anna Iervolino, Sara Damiano, Annapaola Coppola, Margherita Borriello, Diego Ingrosso, Alessandra F. Perna, Miriam Zacchia, Francesco Trepiccione, Giovambattista Capasso
Summary: The study identified the involvement of miRNAs, including miR-23a, in the onset of salt-sensitive hypertension in the medullary thick ascending limb (mTAL) of rats. The downregulation of miR-23a in the mTAL cells led to the upregulation of NHE1, a protein involved in sodium reabsorption and blood pressure regulation. The findings suggest a potential role of miR-23a in mTAL function following high salt intake.
NEPHROLOGY DIALYSIS TRANSPLANTATION
(2023)
Article
Urology & Nephrology
Olivier Devuyst, Krzysztof Kiryluk
KIDNEY INTERNATIONAL
(2023)
Editorial Material
Transplantation
Michele Farisco, Irene Zecchino, Giovambattista Capasso, CONNECT Consortium
NEPHROLOGY DIALYSIS 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)
Review
Health Care Sciences & Services
Andrea Melluso, Floriana Secondulfo, Giovanna Capolongo, Giovambattista Capasso, Miriam Zacchia
Summary: The Bardet Biedl syndrome (BBS) is a rare inherited disorder caused by mutations in genes encoding for proteins mainly localized at the base of the cilium. It shares clinical features with other ciliopathies and mutations in cilia-related genes can cause different clinical ciliopathy entities. In addition to the well-known clinical features, several additional clinical signs have been reported in BBS, expanding our understanding of its complexity.
THERAPEUTICS AND CLINICAL RISK MANAGEMENT
(2023)
Review
Urology & Nephrology
Yoko Suzumoto, Laura Zucaro, Anna Iervolino, Giovambattista Capasso
Summary: Hypertension is a major health issue related to cardiovascular diseases, with complex molecular mechanisms involving multiple factors. Salt intake is a leading determinant of blood pressure, and the kidney plays a major role in maintaining blood pressure. This review provides an overview of the molecular mechanisms of blood pressure modulation associated with renal ion channels/transporters, and highlights the potential for novel therapeutic approaches based on recent studies in animal models.
CLINICAL KIDNEY JOURNAL
(2023)
Review
Clinical Neurology
Marion Pepin, Aleksandra Klimkowicz-Mrowiec, Olivier Godefroy, Pilar Delgado, Sol Carriazo, Ana Carina Ferreira, Aleksandra Golenia, Jolanta Malyszko, Tomasz Grodzicki, Konstantinos Giannakou, Giuseppe Paolisso, Michelangela Barbieri, Liliana Garneata, Carmen Antonia Mocanu, Sophie Liabeuf, Goce Spasovski, Carmine Zoccali, Annette Bruchfeld, Ana Farinha, Mustafa Arici, Giovambattista Capasso, Andrzej A. Wiecek, Ziad Massy
Summary: Cognitive impairment is common in patients with chronic kidney disease (CKD). This article reviews interventions for the complications of CKD and prevention of vascular events, which may potentially also be protective against cognitive impairment. Nonpharmacological and pharmacological methods to prevent cognitive impairment and/or minimize its impact on CKD patients' daily lives are discussed. It is necessary to conduct studies assessing the effect of interventions on the cognitive function of patients with CKD.
EUROPEAN JOURNAL OF NEUROLOGY
(2023)
Article
Genetics & Heredity
Miriam Zacchia, Giovanna Capolongo, Francesca Del Vecchio Blanco, Floriana Secondulfo, Neha Gupta, Giancarlo Blasio, Rosa Maria Pollastro, Angela Cervesato, Giulio Piluso, Giuseppe Gigliotti, Annalaura Torella, Vincenzo Nigro, Alessandra F. F. Perna, Giovambattista Capasso, Francesco Trepiccione
Summary: In this study, NGS analysis was used to analyze the genetic causes of inherited kidney disorders in 176 individuals. Unexpected genetic results were found in 5 individuals, with 3 of them having mutations in collagen type IV genes. This study highlights the crucial role of NGS in diagnosing inherited renal disorders and demonstrates the phenotypic variability in patients with mutations in collagen type IV genes.
Review
Genetics & Heredity
Rossella Di Paola, Ananya De, Raafiah Izhar, Marianna Abate, Silvia Zappavigna, Anna Capasso, Alessandra F. Perna, Antonella La Russa, Giovambattista Capasso, Michele Caraglia, Mariadelina Simeoni
Summary: Chronic kidney disease (CKD) leads to the accumulation and production of uremic toxins, which activate harmful processes. Gut dysbiosis is common in CKD patients and promotes the growth of certain bacteria that release substances like p-Cresol, Indoxyl Sulfate, and p-Cresyl Sulfate. These substances play a role in chronic inflammation, free radical production, and immune dysfunction, potentially contributing to colon cancer development. Further research is needed to fully understand the mechanisms behind this association.
Review
Health Care Sciences & Services
Rossella Di Paola, Ananya De, Anna Capasso, Sofia Giuliana, Roberta Ranieri, Carolina Ruosi, Antonella Sciarra, Caterina Vitagliano, Alessandra F. F. Perna, Giovambattista Capasso, Mariadelina Simeoni
Summary: Thyroid cancer therapy can have a significant impact on renal function, making careful nephrological follow-up essential. Our study explored various aspects of this impact, including assessment methods, the effects of radiotherapy and surgery, and the nephrotoxicity mechanisms of different drugs. We recommend using body surface-based estimated Glomerular Filtration Rate (eGFR) formulas for early detection and treatment of renal failure, ensuring the continuation of therapy for thyroid cancer patients.
JOURNAL OF PERSONALIZED MEDICINE
(2023)
Article
Transplantation
Giovanna Capolongo, Sara Damiano, Yoko Suzumoto, Miriam Zacchia, Maria Rizzo, Enrica Zona, Rosa Maria Pollastro, Mariadelina Simeoni, Roberto Ciarcia, Francesco Trepiccione, Giovambattista Capasso
Summary: This study investigates the nephrotoxicity of cyclosporin A (CsA), a drug used for immuno-suppression, and its association with hypertension. The findings suggest that up-regulation of the sodium transporter NKCC2 in the renal tubules contributes to sodium retention and the development of CsA-induced hypertension. These results were observed in both CsA-treated rats and kidney-transplanted patients receiving CsA treatment.
NEPHROLOGY DIALYSIS TRANSPLANTATION
(2023)
Review
Medicine, General & Internal
Konstantinos Giannakou, Aleksandra Golenia, Sophie Liabeuf, Jolanta Malyszko, Francesco Mattace-Raso, Ana Farinha, Goce Spasovski, Gaye Hafez, Andrzej Wiecek, Giovanna Capolongo, Giovambattista Capasso, Ziad A. Massy, Marion Pepin
Summary: Chronic kidney disease (CKD) affects approximately 850 million people globally and is associated with increased risk of cognitive impairment. The prevalence of cognitive impairment among CKD patients ranges from 30% to 60%, and the link between CKD and cognitive impairment is partially understood. Methodological challenges and biases in studying cognitive function in CKD patients need to be addressed to improve diagnosis, treatment, and management of cognitive impairment in this population.
FRONTIERS IN MEDICINE
(2023)
Review
Urology & Nephrology
Gaye Hafez, Jolanta Malyszko, Aleksandra Golenia, Aleksandra Klimkowicz-Mrowiec, Ana Carina Ferreira, Mustafa Arici, Annette Bruchfeld, Dorothea Nitsch, Ziad A. Massy, Marion Pepin, Giovambattista Capasso, Laila-Yasmin Mani, Sophie Liabeuf
Summary: There is evidence that chronic kidney disease is a risk factor for cognitive impairment, possibly due to vascular damage, blood-brain barrier disruption, and uremic toxins. Medication regimens for CKD patients can be complex due to comorbidities. Common medications used in CKD treatment may have negative effects on cognition.
CLINICAL KIDNEY JOURNAL
(2023)
Article
Urology & Nephrology
Maria Teresa Rocchetti, Francesco Pesce, Silvia Matino, Giovanni Piscopo, Ighli di Bari, Francesco Trepiccione, Giovanna Capolongo, Maria Antonietta Perniola, Xuewen Song, Saima Khowaja, Amirreza Haghighi, Dorien Peters, Simona Paolicelli, Paola Pontrelli, Giuseppe Stefano Netti, Elena Ranieri, Giovambattista Capasso, Marco Moschetta, York Pei, Loreto Gesualdo
Summary: The ratio of urinary epidermal growth factor and monocyte chemotactic peptide 1 is a non-invasive pathophysiological biomarker that can be used for clinical risk stratification in autosomal dominant polycystic kidney disease.
JOURNAL OF NEPHROLOGY
(2023)