Article
Multidisciplinary Sciences
Hiroshi Kataoka, Hiroyuki Akagawa, Rie Yoshida, Naomi Iwasa, Yusuke Ushio, Taro Akihisa, Masayo Sato, Shun Manabe, Shiho Makabe, Keiko Kawachi, Junichi Hoshino, Ken Tsuchiya, Kosaku Nitta, Toshio Mochizuki
Summary: This study aims to verify the association between kidney function/volume and intracranial aneurysm (IA) in patients with autosomal dominant polycystic kidney disease (ADPKD). The study found that total kidney volume, height-adjusted total kidney volume, Mayo imaging classification, and chronic kidney disease stages 3-5 were significantly associated with IA formation. The findings suggest that the progression of kidney disease may play a role in effective IA screening and treatment planning in patients with ADPKD.
SCIENTIFIC REPORTS
(2022)
Review
Pediatrics
Emma Y. X. Walker, Matko Marlais
Summary: This article provides an overview of the challenges associated with screening for asymptomatic intracranial aneurysms (ICA) in children with autosomal dominant polycystic kidney disease (ADPKD). The rarity of ICA rupture in children is indicated by the lack of published literature and there are currently no guidelines supporting regular screening for asymptomatic ICAs in ADPKD patients. However, there is a suggestion for individualized practice, particularly for patients with a positive family history.
PEDIATRIC NEPHROLOGY
(2023)
Review
Medicine, General & Internal
Felipe Gomes de Barros Pontes, Edina Mk da Silva, Jose C. C. Baptista-Silva, Vladimir Vasconcelos
Summary: The study assessed the risks and benefits of interventions for individuals with unruptured intracranial aneurysms, suggesting that surgical treatment may result in more perioperative neurological deficits and longer hospitalization, but the current evidence quality is low, and the optimal treatment approach cannot be determined.
COCHRANE DATABASE OF SYSTEMATIC REVIEWS
(2021)
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
Urology & Nephrology
Julie Xia Zhou, Vicente E. Torres
Summary: Autosomal dominant polycystic kidney disease is a progressive condition that leads to kidney failure due to the formation of kidney cysts. The only approved drug, tolvaptan, for treating this disease is limited by its reduced tolerability and potential hepatotoxicity. Therefore, there is an urgent need to find more effective drugs through drug repurposing, which is a cost-efficient and time-efficient strategy. This review focuses on repurposing approaches to identify suitable drug candidates and prioritize those with a high probability of success for treating autosomal dominant polycystic kidney disease.
KIDNEY INTERNATIONAL
(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
Clinical Neurology
Tim Yannick Cras, Myriam M. G. Hunink, Ruben Dammers, Adriaan C. G. M. van Es, Victor Volovici, James F. Burke, Femke C. C. Kremers, Diederik W. J. Dippel, Bob Roozenbeek
Summary: This study aimed to determine the optimal MRI surveillance strategies for the growth of UIAs using cost-effectiveness analysis and develop a clinical tool for personalizing UIA surveillance. The results showed that the optimal surveillance strategy varied in different countries, and it is feasible to personalize the surveillance strategy considering factors such as age and aneurysm characteristics.
Article
Urology & Nephrology
Berenice Gitomer, Renata Pereira, Isidro B. Salusky, Jason W. Stoneback, Tamara Isakova, Xuan Cai, Lorien S. Dalrymple, Norma Ofsthun, Zhiying You, Harmut H. Malluche, Franklin Maddux, Diana George, Vicente Torres, Arlene Chapman, Theodore I. Steinman, Myles Wolf, Michel Chonchol
Summary: Patients with ADPKD have lower alkaline phosphatase levels, higher circulating intact fibroblast growth factor 23, and decreased bone formation rate. However, ADPKD is not associated with higher rates of bone fracture in ESKD.
KIDNEY INTERNATIONAL
(2021)
Article
Radiology, Nuclear Medicine & Medical Imaging
Cheng-yu Yang, Li Wen, Chun Cui, Tong-sheng Shu, Zhi-ping Wang, Guang-xian Wang, Dong Zhang
Summary: This prospective study investigates the potential correlation between qualitative and quantitative assessment of aneurysm wall enhancement (AWE) on initial enhanced high-resolution magnetic resonance imaging (HR-MRI) and aneurysm progression during follow-up. The study finds that a higher enhancement ratio (ER) value of the aneurysm wall and a larger aneurysm size on initial HR-MRI are independent risk factors for aneurysm progression. Therefore, closer monitoring by imaging or preventive intervention may be required for the clinical management of these aneurysms.
ACADEMIC RADIOLOGY
(2023)
Article
Urology & Nephrology
Victor Martinez, Monica Furlano, Laia Sans, Lissett Pulido, Rebeca Garcia, Maria Vanessa Perez-Gomez, Jinny Sanchez-Rodriguez, Miquel Blasco, Cristina Castro-Alonso, Gema Fernandez-Fresnedo, Nicolas Roberto Robles, Maria Pau Valenzuela, Javier Naranjo, Nadia Martin, Melissa Pilco, Irene Agraz-Pamplona, Juan David Gonzalez-Rodriguez, Nayara Panizo, Gloria Fraga, Loreto Fernandez, Maria Teresa Lopez, Cecilia Dall'Anese, Alberto Ortiz, Roser Torra, Luis Marcas, Asuncion Rius, Patricia Tomas, Leonor Garcia, Enrique Luna, Maria Adoracion Martin, Pablo Inigo, Judith Martins, Fernanda Ramos, Rosa Garcia, Laura del Rio Garcia, Maria del Carmen Merino, M. Jose Fernandez-Reyes, Leire Madariaga, Cristina Canal, Ana Maria Martinez, Rocio Echarri, Hanane Bouarich, Antonio Cabezas
Summary: This study analyzed the clinical characteristics of autosomal dominant polycystic kidney disease (ADPKD) in young adults and found that they have a higher morbidity rate. This highlights the importance of comprehensive assessment for young individuals at risk of ADPKD, in order to enable early diagnosis and treatment of hypertension.
CLINICAL KIDNEY JOURNAL
(2023)
Article
Radiology, Nuclear Medicine & Medical Imaging
Chubin Ou, Winston Chong, Chuan-Zhi Duan, Xin Zhang, Michael Morgan, Yi Qian
Summary: Radiomics features, especially texture features, differ between ruptured and unruptured aneurysms. The use of radiomics features in predicting rupture may significantly improve prediction performance.
EUROPEAN RADIOLOGY
(2021)
Article
Cell Biology
Abeda Jamadar, Sreenath M. Suma, Sijo Mathew, Timothy A. Fields, Darren P. Wallace, James P. Calvet, Reena Rao
Summary: Nintedanib, a triple RTK inhibitor, shows potential in slowing cyst growth in ADPKD by inhibiting cell proliferation and cyst growth, reducing kidney-to-body-weight ratio, and decreasing levels of proproliferative factors.
CELL DEATH & DISEASE
(2021)
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
Cardiac & Cardiovascular Systems
Weiying Zhong, Wenjing Su, Tao Li, Xianjun Tan, Chao Chen, Qian Wang, Donghai Wang, Wandong Su, Yunyan Wang
Summary: This study found that unruptured intracerebral aneurysm wall enhancement is associated with atherosclerosis and inflammatory cell infiltration. Multivariate logistic regression analysis revealed that atherosclerosis is the only factor significantly and independently associated with AWE. Histological assessment showed that inflammatory cell infiltration, intraluminal thrombus, and vasa vasorum are significantly associated with AWE.
JOURNAL OF THE AMERICAN HEART ASSOCIATION
(2021)
Article
Biochemistry & Molecular Biology
Tomoki Kimura, Haruna Kawano, Satoru Muto, Nobuhito Muramoto, Toshiaki Takano, Yan Lu, Hidetaka Eguchi, Hiroo Wada, Yasushi Okazaki, Hisamitsu Ide, Shigeo Horie
Summary: This study investigated the prognostic utility of genetic mutations in predicting renal function outcomes in Japanese patients with autosomal dominant polycystic kidney disease (ADPKD). The results showed that PKD1 mutation is a biomarker for predicting renal prognosis in ADPKD patients.
Article
Urology & Nephrology
Mireille El Ters, Pengcheng Lu, Jonathan D. Mahnken, Jason R. Stubbs, Shiqin Zhang, Darren P. Wallace, Jared J. Grantham, Arlene B. Chapman, Vicente E. Torres, Peter C. Harris, Kyongtae Ty Bae, Douglas P. Landsittel, Frederic F. Rahbari-Oskoui, Michal Mrug, William M. Bennett, Alan S. L. Yu
Summary: In ADPKD patients, higher baseline FGF23 levels were associated with faster rates of total kidney volume increase and decline in glomerular filtration rate, as well as increased risk of disease progression and adverse outcomes. FGF23 serves as an early prognostic biomarker with additive value in guiding the treatment and management of ADPKD patients.
KIDNEY INTERNATIONAL REPORTS
(2021)
Article
Urology & Nephrology
Shehbaz S. Shukoor, Lisa E. Vaughan, Marie E. Edwards, Sravanthi Lavu, Timothy L. Kline, Sarah R. Senum, Yaman Mkhaimer, Ghaith Zaatari, Maria V. Irazabal, Reem Neal, Marie C. Hogan, Ziad M. Zoghby, Peter C. Harris, Vicente E. Torres, Fouad T. Chebib
Summary: This study characterized genotypic and phenotypic attributes of ADPKD patients at end-stage kidney disease (ESKD). The findings showed that kidney volume at ESKD decreases with advancing age, especially in women. Different characteristics were observed in patients with ESKD onset at different ages, suggesting potential underlying mechanisms leading to ESKD differ between younger and older individuals.
KIDNEY INTERNATIONAL REPORTS
(2021)
Article
Urology & Nephrology
Fouad T. Chebib, Vicente E. Torres
Summary: ADPKD is the most common inherited cause of kidney failure, and predicting which patients will progress rapidly to kidney failure is essential. Various factors have been studied as prognostic markers, with age-adjusted TKV and the drug tolvaptan being key in clinical management. Individualized approaches and ongoing clinical trials aim to identify patients at risk of rapid progression and provide targeted treatment.
AMERICAN JOURNAL OF KIDNEY DISEASES
(2021)
Article
Urology & Nephrology
Jennifer Arroyo, Diana Escobar-Zarate, Harrison H. Wells, Megan M. Constans, Ka Thao, Jessica M. Smith, Cynthia J. Sieben, Madeline R. Martell, Timothy L. Kline, Maria Irazabal, Vicente E. Torres, Katharina Hopp, Peter C. Harris
Summary: ADPKD, primarily caused by mutations in PKD1 or PKD2, leads to progressive kidney cyst development and failure. Genetic background plays a significant role in influencing disease severity and progression in mouse models, with different strains showing variability in disease severity and progression rates.
KIDNEY INTERNATIONAL
(2021)
Article
Urology & Nephrology
Andrew J. Mallett, Ronald D. Perrone, Gopala Rangan, Carmel Hawley, Ragada El-Damanawi, Thomas F. Hiemstra, Carolina Townsend Arellano, Jennifer Lee, Vicente E. Torres
Summary: Post hoc analyses of completers in TEMPO 3:4 and REPRISE trials showed that the treatment effect of tolvaptan was similar in both trials, indicating that the greater treatment effect in REPRISE was not due to higher completion rates.
KIDNEY INTERNATIONAL REPORTS
(2021)
Article
Radiology, Nuclear Medicine & Medical Imaging
Adriana V. Gregory, Deema A. Anaam, Andrew J. Vercnocke, Marie E. Edwards, Vicente E. Torres, Peter C. Harris, Bradley J. Erickson, Timothy L. Kline
Summary: Total kidney volume (TKV) is a key imaging biomarker for monitoring disease progression and classifying ADPKD patients, but similar TKVs can lead to drastically different cystic presentations. A 3D semantic instance cyst segmentation algorithm was developed for kidneys in MR images to quantify these cystic differences effectively.
JOURNAL OF DIGITAL IMAGING
(2021)
Article
Urology & Nephrology
Judith E. Heida, Ron T. Gansevoort, Vicente E. Torres, Olivier Devuyst, Ronald D. Perrone, Jennifer Lee, Hui Li, John Ouyang, Arlene B. Chapman
Summary: This study investigated the effects of tolvaptan on blood pressure in patients with autosomal dominant polycystic kidney disease over a 3-year period. The results showed that long-term treatment with tolvaptan gradually lowered blood pressure compared with placebo, with significant reductions in systolic and diastolic blood pressure after 3 years of treatment. However, these differences leveled off at follow-up 3 weeks after discontinuation of the study medication.
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
(2021)
Article
Urology & Nephrology
Marlene L. Nielsen, Mia C. Mundt, Dorte L. Lildballe, Maria Rasmussen, Lone Sunde, Vicente E. Torres, Peter C. Harris, Henrik Birn
Summary: The study on ADPKD mouse model revealed a pattern of megalin expression and endocytic function in cysts, suggesting potential drug targeting through megalin-mediated endocytosis in cysts.
CLINICAL KIDNEY JOURNAL
(2021)
Article
Genetics & Heredity
Sarah R. Senum, Ying (Sabrina) M. Li, Katherine A. Benson, Giancarlo Joli, Eric Olinger, Sravanthi Lavu, Charles D. Madsen, Adriana V. Gregory, Ruxandra Neatu, Timothy L. Kline, Marie -Pierre Audrezet, Patricia Outeda, Cherie B. Nau, Esther Meijer, Hamad Ali, Theodore I. Steinman, Michal Mrug, Paul J. Phelan, Terry J. Watnick, Dorien J. M. Peters, Albert C. M. Ong, Peter J. Conlon, Ronald D. Perrone, Emilie Cornec-Le Gall, Marie C. Hogan, Vicente E. Torres, John A. Saver, Peter C. Harris
Summary: This study identifies a link between the IFT140 gene and autosomal dominant polycystic kidney disease (ADPKD). The monoallelic variation of IFT140 is associated with mild PKD phenotype, while the biallelic variation is linked to a syndromic ciliopathy. The findings also suggest that the monoallelic IFT140 variation is relatively common among cystic kidney disease patients.
AMERICAN JOURNAL OF HUMAN GENETICS
(2022)
Letter
Urology & Nephrology
Cortney Steele, Zhiying You, Berenice Y. Gitomer, Godela M. Brosnahan, Kaleab Z. Abebe, William E. Braun, Arlene B. Chapman, Peter C. Harris, Ronald D. Perrone, Theodore I. Steinman, Vicente E. Torres, Alan S. L. Yu, Michel Chonchol, Kristen L. Nowak
KIDNEY INTERNATIONAL REPORTS
(2022)
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
Xiaofang Wang, Li Jiang, Ka Thao, Caroline R. Sussman, Timothy LaBranche, Michael Palmer, Peter C. Harris, G. Stanley McKnight, Klaus P. Hoeflich, Stefanie Schalm, Vicente E. Torres
Summary: Upregulation of cAMP-dependent and cAMP-independent PKA signaling promotes cystogenesis in polycystic kidney disease (PKD). Activation of PKA-I promotes cystogenesis, while its inhibition prevents cyst formation. Inhibition of PKA activity can directly and/or indirectly inhibit multiple pro-proliferative pathways and is protective in vivo.
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
(2022)
Article
Cell Biology
Kamalnath S. Rajagopalan, Logan M. Glasstetter, Xiang-Yang Zhu, Roman Thaler, Hui Tang, Kyra L. Jordan, Ishran M. Saadiq, Sandra M. Herrmann, Alejandro R. Chade, Maria Irazabal, Lilach O. Lerman, Alfonso Eirin
Summary: This study found that renal artery stenosis can lead to epigenetic changes in renal tubular cells and affect cellular function.
Article
Urology & Nephrology
Brian E. Jones, Yaman G. Mkhaimer, Laureano J. Rangel, Maroun Chedid, Phillip J. Schulte, Alaa K. Mohamed, Reem M. Neal, Dalia Zubidat, Amarjyot K. Randhawa, Christian Hanna, Adriana Gregory, Timothy L. Kline, Ziad M. Zoghby, Sarah R. Senum, Peter C. Harris, Vicente E. Torres, Fouad T. Chebib
Summary: The study found that asymptomatic pyuria (AP) is associated with kidney failure and faster decline in kidney function, serving as a prognostic biomarker for the rate of disease progression in autosomal dominant polycystic kidney disease (ADPKD).
Article
Urology & Nephrology
Maroun Chedid, Christian Hanna, Ghaith Zaatari, Yaman Mkhaimer, Prajwal Reddy, Laureano Rangel, Dalia Zubidat, Daniel-Hasan Nabil Kaidbay, Maria V. Irazabal, Heidi M. Connolly, Sarah R. Senum, Charles D. Madsen, Marie C. Hogan, Ziad Zoghby, Peter C. Harris, Vicente E. Torres, Jonathan N. Johnson, Fouad T. Chebib
Summary: This study observed a higher frequency of CHD in ADPKD patients compared to the general population. Although only PKD1 pathogenic variants were identified, further research is needed to confirm this association and understand the role of polycystins in cardiac and vascular development.
AMERICAN JOURNAL OF NEPHROLOGY
(2022)