Article
Urology & Nephrology
Kyongtae T. Bae, Cheng Tao, Robert Feldman, Alan S. L. Yu, Vicente E. Torres, Ronald D. Perrone, Arlene B. Chapman, Godela Brosnahan, Theodore I. Steinman, William E. Braun, Michal Mrug, William M. Bennett, Peter C. Harris, Avantika Srivastava, Douglas P. Landsittel, Kaleab Z. Abebe
Summary: This study aimed to evaluate the associations of polycystic liver progression with other disease progression variables and classify liver progression on the basis of patient's age, height-adjusted liver cystic volume, and height-adjusted liver volume. The use of height-adjusted liver cystic volume showed greater separations in volumetric progression of polycystic liver disease.
CLINICAL JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
(2022)
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, General & Internal
Stefano Di Pietro, Alfredo Gaetano Torcitto, Carmelita Marcantoni, Gabriele Giordano, Christian Campisi, Giovanni Failla, Licia Saporito, Rosa Giunta, Massimiliano Veroux, Pietro Valerio Foti, Stefano Palmucci, Antonio Basile
Summary: This study assessed the performance of two methods, the ellipsoid method and the semi-automatic segmentation method, for measuring total kidney volume (TKV) and single kidney volume (SKV) in patients with autosomal dominant polycystic renal disease (ADPKD). The results showed that the semi-automatic segmentation method had better inter-observer reproducibility, while the ellipsoid method was more affected by inter-observer variability, especially when performed by operators with limited experience.
Editorial Material
Urology & Nephrology
Zhiguo Mao, Manoj K. Valluru, Albert C. M. Ong
Summary: ADPKD is a common genetic kidney disease with limited treatment options. A study on the PPAR-γ agonist pioglitazone in ADPKD patients showed no major safety concerns but lacked evidence of efficacy due to a small sample size. Further research is needed to determine the potential clinical effects of PPAR-γ agonists in ADPKD.
CLINICAL KIDNEY JOURNAL
(2021)
Article
Medicine, General & Internal
Anish Raj, Fabian Tollens, Laura Hansen, Alena-Kathrin Golla, Lothar R. Schad, Dominik Noerenberg, Frank G. Zoellner
Summary: This study aims to improve TKV estimation based on U-Net by incorporating attention mechanisms, cosine loss function, and sharpness aware minimization technique, enhancing the accuracy of kidney segmentation. Experimental results demonstrate significant performance improvements using these methods with only 100 MRI datasets.
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)
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
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)
Article
Biochemistry & Molecular Biology
Johannes Leierer, Paul Perco, Benedikt Hofer, Susanne Eder, Alexander Dzien, Julia Kerschbaum, Michael Rudnicki, Gert Mayer
Summary: Changes in protein concentrations in the body fluids of ADPKD patients mainly involve dysregulation of various molecular processes, including markers such as EGF, APLN, VEGFA, and AGT. These markers are significantly correlated with renal function and disease progression.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Review
Obstetrics & Gynecology
Xiuzhen Yao, Weiqun Ao, Jianhua Fang, Guoqun Mao, Chuanghua Chen, Lifang Yu, Huaijie Cai, Chenke Xu
Summary: This case demonstrates the importance of imaging examinations in the diagnosis and evaluation of CD concomitant with ARPKD.
BMC PREGNANCY AND CHILDBIRTH
(2021)
Article
Urology & Nephrology
Matthew B. Lanktree, Amirreza Haghighi, Ighli di Bari, Xuewen Song, York Pei
Summary: Autosomal dominant polycystic kidney disease is mainly caused by mutations in PKD1 and PKD2 genes, but may also be caused by mutations in other endoplasmic reticulum protein biosynthetic pathway genes or somatic mosaicism. Genetic testing aids in diagnosis and prognosis, but screening for PKD1 mutations is challenging, and conventional Sanger sequencing is limited in elucidating the causes of atypical polycystic kidney disease.
CLINICAL JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
(2021)
Article
Gastroenterology & Hepatology
Bernhard Schlevogt, Vincent Schlieper, Jana Krader, Rita Schroeter, Thomas Wagner, Matthias Weiand, Andree Zibert, Hartmut H. Schmidt, Carsten Bergmann, Pavel Nedvetsky, Michael P. Krahn
Summary: In this study, a variant in the SEC61A1 gene was identified to be associated with the development of polycystic liver disease. The mutant SEC61A1 protein was shown to undergo enhanced proteasomal degradation, resulting in impaired synthesis of polycystin-2.
LIVER INTERNATIONAL
(2023)
Article
Urology & Nephrology
Cortney N. Steele, Ester S. Oh, Wei Wang, Heather Farmer-Bailey, Berenice Y. Gitomer, Michel Chonchol, Kristen L. Nowak
Summary: Cerebrovascular dysfunction, characterized by increased brain pulsatile flow, reduced cerebrovascular reactivity, and cerebral hypoperfusion, precedes the onset of dementia and is linked to cognitive dysfunction. Patients with autosomal dominant polycystic kidney disease (ADPKD) have a higher risk of dementia and are more likely to develop intracranial aneurysms, but cerebrovascular function in ADPKD patients has not been previously characterized.
AMERICAN JOURNAL OF NEPHROLOGY
(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.
Review
Medicine, General & Internal
Jing Xu, Cheng Xue, Xiaodong Wang, Lei Zhang, Changlin Mei, Zhiguo Mao
Summary: ADPKD, the most common inherited kidney disease worldwide, is mainly influenced by genes PKD1 and PKD2. Epigenetic modifications, particularly chromatin methylation and histone modifications, play a significant role in the development and progression of ADPKD. More research is needed to better understand and potentially treat the methylation abnormalities in ADPKD.
FRONTIERS IN MEDICINE
(2022)
Article
Urology & Nephrology
George Haddad, Malte Kolling, Urs A. Wegmann, Angela Dettling, Harald Seeger, Roland Schmitt, Inga Soerensen-Zender, Hermann Haller, Andreas D. Kistler, Anne Dueck, Stefan Engelhardt, Thomas Thum, Thomas F. Mueller, Rudolf P. Wuethrich, Johan M. Lorenzen
Summary: The study found that H19 is upregulated in kidney biopsies of patients with AKI, in murine ischemic kidney tissue, and in cultured and ex vivo sorted hypoxic endothelial cells (ECs) and tubular epithelial cells (TECs). The overexpression of H19 promotes angiogenesis both in vitro and in vivo, and it confers protection against renal injury by stimulating proangiogenic signaling.
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
(2021)
Article
Genetics & Heredity
Albina Nowak, George Haddad, Andreas D. Kistler, Stellor Nlandu-Khodo, Felix Beuschlein, Rudolf P. Wuthrich, Johan M. Lorenzen, Malte Kolling
Summary: Blood-based circular RNA profiles may improve phenotypic assignment and therapeutic monitoring of Fabry disease. Circulating circular RNA levels are associated with clinical characteristics of Fabry disease, distinguishing patients from healthy controls.
JOURNAL OF MEDICAL GENETICS
(2022)
Article
Endocrinology & Metabolism
Bernd Schultes, Susanne Emmerich, Andreas D. Kistler, Badreddine Mecheri, Oliver Schnell, Gottfried Rudofsky
Summary: This observational study evaluates the impact of ACR point-of-care testing on DKD diagnosis and treatment management. The study found that ACR POCT can have a positive effect on DKD diagnosis and improve treatment management for patients with diabetes.
JOURNAL OF DIABETES SCIENCE AND TECHNOLOGY
(2023)
Article
Pathology
Riyaz Mohamed, Yang Liu, Andreas D. Kistler, Peter C. Harris, Muthusamy Thangaraju
Summary: This study describes a novel pathway involved in the formation of cysts in polycystic kidney disease (PKD). It was found that overexpression of netrin-1 in proximal tubular cells led to increased production and urinary excretion of netrin-1, resulting in cyst formation in the kidneys of transgenic mice. Surprisingly, cysts were only observed in male mice, but ovariectomy induced cyst growth in female mice. The findings suggest that netrin-1 up-regulation plays a role in the development of cysts in autosomal dominant PKD.
AMERICAN JOURNAL OF PATHOLOGY
(2022)
Article
Public, Environmental & Occupational Health
Michael J. Deml, Julia Minnema, Julie Dubois, Oliver Senn, Sven Streit, Yael Rachamin, Katharina Tabea Jungo
Summary: Continuity of care is crucial for the health of aging individuals with comorbidities. This study utilized a mixed-methods design to examine the healthcare utilization of at-risk patients during the COVID-19 pandemic in Switzerland. The quantitative findings show a significant decrease in consultation and measurement counts during the initial shutdown period, followed by a return to normal levels. The qualitative data highlight communication gaps and the lack of clear guidelines during the pandemic.
SOCIAL SCIENCE & MEDICINE
(2022)
Letter
Urology & Nephrology
Lukas Bock, Alexander Keil, Stefan Flury, Andreas D. Kistler
KIDNEY INTERNATIONAL REPORTS
(2022)
Review
Infectious Diseases
Sebastian Burgener, Philippe Rochat, Guenter Dollenmaier, Gabriel Benz, Andreas D. Kistler, Rosamaria Fulchini
Summary: Growing evidence suggests that anti-CD20 treatments may lead to a more severe course of COVID-19. This case study focuses on a 72-year-old woman with seropositive rheumatoid arthritis who received rituximab, an anti-CD20 antibody, and experienced a clinical relapse of SARS-CoV-2 infection after more than 4 weeks. Persistence of positive RT-PCR results, cycling threshold (Ct) value drop, and recovery of identical viral genotype through whole genome sequencing (WGS) argue against reinfection. Lack of seroconversion, as expected with anti-CD20 treatment, further supports the association between B-cell depletion and fatal COVID-19 courses.
CASE REPORTS IN INFECTIOUS DISEASES
(2022)
Article
Multidisciplinary Sciences
Levy Jaeger, Thomas Rosemann, Jakob Martin Burgstaller, Oliver Senn, Stefan Markun
Summary: This study evaluated the quality and physician-level variation of CKD care using electronic medical records data from Swiss general practice. The results indicated variations in renal function assessment among physicians and identified potential gaps in quality of CKD monitoring.
Article
Multidisciplinary Sciences
Nina Hangartner, Stefania Di Gangi, Christoph Elbl, Oliver Senn, Fadri Bisatz, Thomas Fehr
Summary: This study investigated the displacement and underuse of non-COVID-19 patient care in a Swiss tertiary hospital during the COVID-19 pandemic. The findings showed a decrease in elective admissions and an increase in emergency admissions, as well as a decrease in emergency outpatient consultations. Most general practitioners and heads of referring hospitals reported a decrease in consultations. The study highlights the negative impact of the COVID-19 pandemic on the care of non-COVID-19 patients and the need for better management in similar situations.
Article
Multidisciplinary Sciences
Eric Olinger, Celine Schaeffer, Kendrah Kidd, Elhussein A. E. Elhassan, Yurong Cheng, Ines Dufour, Guglielmo Schiano, Holly Mabillard, Elena Pasqualetto, Patrick Hofmann, Daniel G. Fuster, Andreas D. Kistler, Ian J. Wilson, Stanislav Kmoch, Laure Raymond, Thomas Robert, Kai-Uwe Eckardt, Anthony J. Bleyer, Anna Koettgen, Peter J. Conlon, Michael Wiesener, John A. Sayer, Luca Rampoldi, Olivier Devuyst
Summary: The identification of an intermediate-effect UMOD variant reveals its contribution to CKD and provides new insights into the genetic architecture of CKD.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2022)
Article
Urology & Nephrology
Matthias Diebold, Eleonore Locher, Philipp Boide, Annette Enzler-Tschudy, Anna Faivre, Ingeborg Fischer, Birgit Helmchen, Helmut Hopfer, Min Jeong Kim, Solange Moll, Giliane Nanchen, Samuel Rotman, Charalampos Saganas, Harald Seeger, Andreas D. Kistler
Summary: Studies using retrospective cohort and case-cohort design found no association between mRNA-based SARS-CoV-2 vaccination and new-onset glomerulonephritis. Most temporal associations between SARS-CoV-2 vaccination and glomerulonephritis are likely coincidental.
KIDNEY INTERNATIONAL
(2022)
Article
Immunology
David Hodgson, Mihaly Koltai, Fabienne Krauer, Stefan Flasche, Mark Jit, Katherine E. Atkins
Summary: This study evaluates the cost-effectiveness of Nirsevimab intervention programs in England and Wales, indicating that they have the potential to be a cost-effective approach for preventing and treating respiratory syncytial virus (RSV) infection in infants.
Article
Infectious Diseases
Mihaly Koltai, Fabienne Krauer, David Hodgson, Edwin van Leeuwen, Marina Treskova-Schwarzbach, Mark Jit, Stefan Flasche
Summary: The study found that COVID-19 mitigation measures in the UK halted the circulation of RSV in the 2020/21 season, leading to an early off-season resurgence in 2021. Increased dependence of infection susceptibility on immunity from previous exposure further amplified the size of the off-season epidemic.
Article
Medicine, General & Internal
Ivan Gentile, Nicola Schiano Moriello, Rogier Hopstaken, Carl Llor, Hasse Melbye, Oliver Senn
Summary: Limiting antibiotic overuse is crucial in addressing antibiotic resistance. C-reactive protein point-of-care testing shows potential in reducing antibiotic prescriptions for lower respiratory tract infections, but financial and logistical challenges need to be addressed.
Article
Substance Abuse
Thomas Grischott, Oliver Senn, Anja Frei, Thomas Rosemann, Stefan Neuner-Jehle
Summary: Swiss GPs developed a multithematic coaching concept to help smokers improve health behaviors beyond smoking cessation. In a randomized trial, they found that multithematic health coaching and smoking cessation counseling were equally effective in achieving clinically relevant improvements in various health behaviors. This suggests that GPs can effectively support smoking patients in improving their overall health behavior.
NICOTINE & TOBACCO RESEARCH
(2023)