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
Biochemistry & Molecular Biology
Sarah A. Bowden, Euan J. Rodger, Aniruddha Chatterjee, Michael R. Eccles, Cherie Stayner
Summary: ADPKD is a heritable renal disease caused by uncontrolled cyst growth in the kidneys, leading to end-stage kidney disease, with limited therapeutic options available. Due to similarities with neoplasia, research suggests that ADPKD kidneys may have alterations in their epigenetic landscape.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
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)
Review
Urology & Nephrology
Fouad T. Chebib, Kristen L. Nowak, Michel B. Chonchol, Kristen Bing, Ahmad Ghanem, Frederic F. Rahbari-Oskoui, Neera K. Dahl, Michal Mrug
Summary: This review discusses the efficacy and safety of dietary interventions, such as caloric restriction, intermittent fasting, and ketogenic diet, in managing ADPKD. These interventions show promise in improving metabolic health and reducing oxidative stress in ADPKD, but limited clinical evidence supports their effectiveness.
CLINICAL JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
(2023)
Review
Biochemistry & Molecular Biology
Adrian Cordido, Marta Vizoso-Gonzalez, Miguel A. Garcia-Gonzalez
Summary: ARPKD is a rare disorder linked to the PKHD1 and DZIP1L genes, with research elucidating molecular pathways involved in disease progression. However, understanding of the function of ARPKD proteins and the disease's molecular mechanism remains incomplete.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
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
Physiology
Heather A. L. Riddle, Shiqin Zhang, Feng Qian, James C. Williams, Jason R. Stubbs, Peter Stanley N. Rowe, Stephen C. Parnell
Summary: This study found that compound heterozygous Pkd1(VIRC) mice develop calcium phosphate-containing stones within cysts of the renal cortex by 13 weeks of age. This is the first animal model of polycystic kidney disease that exhibits spontaneous stone formation. Growing evidence suggests a link between renal stone formation and cystic kidney disease. This mouse model may be useful for studying the interplay between stone and cyst formation and the functional role of polycystins in mineral homeostasis.
AMERICAN JOURNAL OF PHYSIOLOGY-RENAL PHYSIOLOGY
(2022)
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)
Review
Veterinary Sciences
Lorie Schirrer, Pablo Jesus Marin-Garcia, Lola Llobat
Summary: Polycystic kidney disease (PKD) is a common genetic disease in felines and other mammals, particularly in Persian cats. It results in fluid-filled cysts in the kidneys and other organs, leading to kidney failure. Imaging tests are currently the most reliable method for diagnosis.
VETERINARY SCIENCES
(2021)
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
Engineering, Biomedical
Roman Pichler, Ludovica Rizzo, Kevin Troendle, Michaela Buehler, Hanna Brucker, Anna-Lena Mueller, Kelli Grand, Silvia Fare, Amandine Viau, Michael M. Kaminski, E. Wolfgang Kuehn, Fritz Koch, Stefan Zimmermann, Peter Koltay, Soeren S. Lienkamp
Summary: Embedding renal tubular cells in 3D microenvironments or controlling their assembly using bioprinting can improve their physiological properties and aid in disease modeling. Induced renal tubular epithelial cells (iRECs) can be cultured in various biomaterials and bioprinted tubular structures, showing compatibility with the substrates and methods. Transcriptomic analysis reveals differentially expressed genes specific to each biomaterial, and the use of iRECs helps unmask disease phenotypes.
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)
Article
Plant Sciences
Chun Zhang, Qin Yu, Heping Han, Chaojie Yu, Alex Nyporko, Xingshan Tian, Hugh Beckie, Stephen Powles
Summary: This study reveals a naturally occurring mutation in glutamine synthetase that confers resistance to glufosinate in Eleusine indica. The molecular basis of target site glufosinate resistance in E. indica was established, and a mutant EiGS1-1 gene was found to confer glufosinate resistance in rice. Structural modeling showed that the mutation in EiGS1-1 affects important binding residues, suggesting parallel evolution of this resistance mutation.
JOURNAL OF EXPERIMENTAL BOTANY
(2022)
Article
Biochemistry & Molecular Biology
Ming-Yang Chang, Shen-Hsing Hsu, Li-Yi Ma, Li-Feng Chou, Cheng-Chieh Hung, Ya-Chung Tian, Chih-Wei Yang
Summary: The study suggests that suramin may reduce renal cyst growth and inflammation by inhibiting the purinergic signaling pathway. However, treatment with suramin could cause tubular cell injuries, limiting its therapeutic potential. Further research on other purinergic receptor antagonists with less nephrotoxicity is needed for the treatment of ADPKD.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Multidisciplinary Sciences
Maike Getwan, Anselm Hoppmann, Pascal Schlosser, Kelli Grand, Weiting Song, Rebecca Diehl, Sophie Schroda, Florian Heeg, Konstantin Deutsch, Friedhelm Hildebrandt, Ekkehart Lausch, Anna Kottgen, Soeren S. Lienkamp
Summary: Using CRISPR/Cas9 mutagenesis, researchers established models for skeletal ciliopathies in Xenopus tropicalis and identified Ttc30a as a key gene related to known skeletal ciliopathy genes, with loss of Ttc30a leading to limb deformities and renal cysts. The study revealed TTC30A/B as essential nodes in the network of ciliary chondrodysplasia and nephronophthisis-like disease proteins.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2021)