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)
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
Urology & Nephrology
Francesco P. Schena, Samantha Chiurlia, Daniela Abbrescia, Sharon N. Cox
Summary: This narrative review explores the use of transcriptomics in the analysis of kidney biopsies and urinary cell samples from patients with immunoglobulin A nephropathy or lupus nephritis. Transcriptomics can uncover new molecular biomarkers associated with the inflammatory process in kidney diseases, and can be used to diagnose the stage of inflammation by studying urinary cell transcriptomics, avoiding the need for a second kidney biopsy during patient follow-up.
CLINICAL KIDNEY JOURNAL
(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)
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
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
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
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
Biochemistry & Molecular Biology
Jana Reiterova, Vladimir Tesar
Summary: ADPKD is the most common genetic renal disease caused by mutations in PKD1 and PKD2 genes, affecting various cellular processes. Multiple molecular pathways are involved in cystogenesis, including reduction of calcium ions, induction of sAMP, and activation of the MAPK/ERK pathway. Metabolic alterations and drug therapy are hot topics in research.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
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.
Review
Cell Biology
Fiammetta Ravaglia, Maria Elena Melica, Maria Lucia Angelotti, Letizia De Chiara, Paola Romagnani, Laura Lasagni
Summary: Podocytopathies are a group of proteinuric glomerular disorders driven by primary podocyte injury, with various lesion patterns observed on kidney biopsy. Recent evidence suggests that these patterns represent signs of repeated injury and repair attempts, depending on the type, length, and severity of the podocyte injury, as well as the ability of parietal epithelial cells to drive repair processes.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2022)
Article
Immunology
Maud Tusseau, Ema Lovsin, Charlotte Samaille, Remi Pescarmona, Anne-Laure Mathieu, Maria-Cristina Maggio, Velma Selmanovic, Marusa Debeljak, Angelique Dachy, Gregor Novljan, Alexandre Janin, Louis Januel, Jean-Baptiste Gibier, Emilie Chopin, Isabelle Rouvet, David Goncalves, Nicole Fabien, Gillian Rice, Gaetan Lesca, Audrey Labalme, Paola Romagnani, Thierry Walzer, Sebastien Viel, Magali Perret, Yanick J. Crow, Tadej Avcin, Rolando Cimaz, Alexandre Belot
Summary: The interferon signaling in DNASE1L3 deficient patients is transient, unlike the anomalies observed in other diseases. DNASE1L3 deficiencies are associated with a broad phenotype including lupus nephritis and hypocomplementemic urticarial vasculitis.
JOURNAL OF CLINICAL IMMUNOLOGY
(2022)
Article
Cell Biology
Maria Elena Melica, Giulia Antonelli, Roberto Semeraro, Maria Lucia Angelotti, Gianmarco Lugli, Samuela Landini, Fiammetta Ravaglia, Gilda La Regina, Carolina Conte, Letizia De Chiara, Anna Julie Peired, Benedetta Mazzinghi, Marta Donati, Alice Molli, Stefanie Steiger, Alberto Magi, Niccolo Bartalucci, Valentina Raglianti, Francesco Guzzi, Laura Maggi, Francesco Annunziato, Alexa Burger, Elena Lazzeri, Hans-Joachim Anders, Laura Lasagni, Paola Romagnani
Summary: Crescentic glomerulonephritis is a disease characterized by vascular necrosis and hyperplasia of epithelial cells, resulting in the formation of crescents. Little is known about the molecular mechanisms driving this process. Research on mouse models showed that crescents are derived from the clonal expansion of immature parietal epithelial cells. Treatment with panobinostat, a histone deacetylase inhibitor, attenuated crescentic glomerulonephritis and restored kidney function by inducing differentiation of immature hyperplastic parietal epithelial cells into podocytes.
SCIENCE TRANSLATIONAL MEDICINE
(2022)
Article
Transplantation
Lyuben Lyubenov, Chongxu Shi, Danyang Zhao, Luying Yang, Yutian Lei, Elmina Mammadova-Bach, Letizia de Chiara, Roberto Semeraro, Samuela Landini, Paola Romagnani, Elena Voerg, Satish K. Devarapu, Ricarda Welz, Stephan T. Kiessig, Hans-Joachim Anders
Summary: Cholesterol crystal (CC) embolism leads to acute kidney injury (AKI) and ischaemic cortical necrosis with high mortality. Injection of Glu-plasminogen (Glu-Plg) showed a dose-dependent attenuation of thrombotic angiopathy, GFR loss, and ischaemic necrosis in mice with CC embolism. Intermediate dose of Glu-Plg had transient protective effect, while high dose provided full protection without bleeding complications.
NEPHROLOGY DIALYSIS TRANSPLANTATION
(2023)
Article
Multidisciplinary Sciences
Letizia De Chiara, Carolina Conte, Roberto Semeraro, Paula Diaz-Bulnes, Maria Lucia Angelotti, Benedetta Mazzinghi, Alice Molli, Giulia Antonelli, Samuela Landini, Maria Elena Melica, Anna Julie Peired, Laura Maggi, Marta Donati, Gilda La Regina, Marco Allinovi, Fiammetta Ravaglia, Daniele Guasti, Daniele Bani, Luigi Cirillo, Francesca Becherucci, Francesco Guzzi, Alberto Magi, Francesco Annunziato, Laura Lasagni, Hans-Joachim Anders, Elena Lazzeri, Paola Romagnani
Summary: In this study, the distribution of polyploid tubular cells (TC) during acute kidney injury (AKI) was characterized using DNA content analysis and single cell RNA-sequencing. It was found that YAP1-driven TC polyploidization outside the site of injury is a mechanism to sustain residual kidney function during early AKI. However, polyploid TC senescence promotes interstitial fibrosis and CKD in AKI survivors. Targeting TC polyploidization after the early AKI phase prevents AKI-CKD transition without affecting AKI lethality. Senolytic treatment blocks repeated TC polyploidization cycles and prevents CKD.
NATURE COMMUNICATIONS
(2022)
Article
Transplantation
Paola Romagnani, A. Richard Kitching, Nelson Leung, Hans-Joachim Anders
Summary: Glomerulonephritis (GN) is a diverse group of immune-mediated disorders, which cannot be properly classified or treated based on histological patterns alone. To overcome this problem, a new classification system is proposed that considers disease category, immunological activity, and chronicity, which will guide the therapeutic approach.
NEPHROLOGY DIALYSIS TRANSPLANTATION
(2023)
Article
Biochemistry & Molecular Biology
Marco Allinovi, Francesco Sessa, Gianluca Villa, Andrea Cocci, Samantha Innocenti, Maria Zanazzi, Lorenzo Tofani, Laura Paparella, Dritan Curi, Calogero Lino Cirami, Riccardo Campi, Andrea Mari, Agostino Ognibene, Maria Lorubbio, Alessandra Fanelli, Stefano Romagnoli, Paola Romagnani, Andrea Minervini
Summary: The study aimed to identify and compare serum and urinary predictors for predicting long-term decline in glomerular filtration rate (GFR) after robotic Nephron-Spearing Surgery (rNSS). The results showed that patients who developed clinical acute kidney injury (AKI) had a more pronounced decline in eGFR at 24 months. KineticGFR at 4 hours and NephroCheck at 10 hours were found to be efficient predictors of post-operative AKI and long-term eGFR decline. Combining these biomarkers could help identify high-risk patients as early as 10 hours after surgery.
Article
Cell Biology
Letizia De Chiara, Roberto Semeraro, Benedetta Mazzinghi, Samuela Landini, Alice Molli, Giulia Antonelli, Maria Lucia Angelotti, Maria Elena Melica, Laura Maggi, Carolina Conte, Anna Julie Peired, Luigi Cirillo, Valentina Raglianti, Alberto Magi, Francesco Annunziato, Paola Romagnani, Elena Lazzeri
Summary: This study investigates the link between polyploid tubular cells (TC) and kidney fibrosis. The findings suggest that polyploid TC, unlike diploid TC, accumulate DNA damage and survive, eventually resting in the G1 phase of the cell cycle after acute kidney injury (AKI). These polyploid TC acquire a profibrotic phenotype and TGF-beta 1 signaling promotes their polyploidization. Interactions among polyploid TC, macrophages, and fibroblasts through TGF-beta 1 signaling sustain kidney fibrosis and promote chronic kidney disease (CKD) progression.
AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY
(2023)
Article
Urology & Nephrology
Zhihui Zhu, Karoline A. T. Rosenkranz, Yoshihiro Kusunoki, Chenyu Li, Martin Klaus, Oliver Gross, Maria-Lucia Angelotti, Giulia Antonelli, Luigi Cirillo, Paola Romagnani, Nassim Bouteldja, Alireza Vafaei Sadr, Roman D. Buelow, Peter Boor, Hans-Joachim Anders
Summary: A preclinical study in mice suggests that triple blockade of RAS/SGLT2/MR may significantly improve renal outcomes in Alport syndrome and other progressive CKDs due to synergistic effects on the glomerular and tubulointerstitial compartments.
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
(2023)
Article
Biology
Maria Elena Melica, Maria Lucia Angelotti, Giulia Antonelli, Anna J. Peired, Carolina Conte, Letizia De Chiara, Benedetta Mazzinghi, Elena Lazzeri, Laura Lasagni, Paola Romagnani
Summary: This article introduces a protocol for preparing primary cultures of podocytes, in which mature podocytes are obtained by isolating and differentiating kidney progenitor cells. This method can be used to study the physiology and pathophysiology of human kidney progenitors and to model kidney disorders involving podocytes.
