keyword
https://read.qxmd.com/read/38534333/cd74-promotes-cyst-growth-and-renal-fibrosis-in-autosomal-dominant-polycystic-kidney-disease
#1
JOURNAL ARTICLE
Julie Xia Zhou, Alice Shasha Cheng, Li Chen, Linda Xiaoyan Li, Ewud Agborbesong, Vicente E Torres, Peter C Harris, Xiaogang Li
The progression of autosomal dominant polycystic kidney disease (ADPKD), an inherited kidney disease, is associated with renal interstitial inflammation and fibrosis. CD74 has been known not only as a receptor of macrophage migration inhibitory factor (MIF) it can also have MIF independent functions. In this study, we report unknown roles and function of CD74 in ADPKD. We show that knockout of CD74 delays cyst growth in Pkd1 mutant kidneys. Knockout and knockdown of CD74 (1) normalize PKD associated signaling pathways, including ERK, mTOR and Rb to decrease Pkd1 mutant renal epithelial cell proliferation, (2) decrease the activation of NF-κB and the expression of MCP-1 and TNF-alpha (TNF-α) which decreases the recruitment of macrophages in Pkd1 mutant kidneys, and (3) decrease renal fibrosis in Pkd1 mutant kidneys...
March 11, 2024: Cells
https://read.qxmd.com/read/38530430/quantitative-susceptibility-mapping-for-detection-of-kidney-stones-hemorrhage-differentiation-and-cyst-classification-in-adpkd
#2
JOURNAL ARTICLE
Karl Schumacher, Martin R Prince, Jon D Blumenfeld, Hanna Rennert, Zhongxiu Hu, Hreedi Dev, Yi Wang, Alexey V Dimov
BACKGROUND AND PURPOSE: The objective is to demonstrate feasibility of quantitative susceptibility mapping (QSM) in autosomal dominant polycystic kidney disease (ADPKD) patients and to compare imaging findings with traditional T1/T2w magnetic resonance imaging (MRI). METHODS: Thirty-three consecutive patients (11 male, 22 female) diagnosed with ADPKD were initially selected. QSM images were reconstructed from the multiecho gradient echo data and compared to co-registered T2w, T1w, and CT images...
March 26, 2024: Abdominal Radiology
https://read.qxmd.com/read/38527221/comprehensive-analysis-of-pkd1-and-pkd2-by-long-read-sequencing-in-autosomal-dominant-polycystic-kidney-disease
#3
JOURNAL ARTICLE
Dechao Xu, Aiping Mao, Libao Chen, Le Wu, Yiyi Ma, Changlin Mei
BACKGROUND: Autosomal dominant polycystic kidney disease (ADPKD) is mainly caused by heterogeneous variants in the PKD1 and PKD2 genes. Genetic analysis of PKD1 has been challenging due to homology with 6 PKD1 pseudogenes and high GC content. METHODS: A single-tube multiplex long-range-PCR and long-read sequencing-based assay termed "comprehensive analysis of ADPKD" (CAPKD) was developed and evaluated in 170 unrelated patients by comparing to control methods including next-generation sequencing (NGS) and multiplex ligation-dependent probe amplification...
March 25, 2024: Clinical Chemistry
https://read.qxmd.com/read/38526140/kidney-stones-account-for-increased-imaging-studies-in-autosomal-dominant-polycystic-kidney-disease
#4
JOURNAL ARTICLE
Kathryn E Simmons, Lawrence S Ullman, Neera K Dahl
INTRODUCTION: ADPKD patients may have more imaging studies than patients with other forms of chronic kidney disease (CKD). We characterized the imaging burden of ADPKD patients relative to a CKD population to determine which factors lead to increased imaging in ADPKD patients. METHODS: We retrospectively reviewed patients seen at Yale Nephrology between January 2012 and January 2021. We collected demographic, clinical, and imaging data through automated query and manual chart review...
March 25, 2024: Kidney360
https://read.qxmd.com/read/38523883/caroli-s-disease-associated-with-autosomal-dominant-polycystic-kidney-disease-with-acute-pancreatitis-a-case-report
#5
Karishma M Rathi, Priyanka Pingat, Prachi Bansode, Shaili Dongare
A rare congenital hepatobiliary disorder called Caroli's disease is characterized by multifocal segmental dilatation of intrahepatic bile ducts that can affect the entire liver or only specific areas of it. Coexisting conditions with Caroli's disease include autosomal dominant polycystic kidney disease (ADPKD) and autosomal recessive polycystic kidney disease (ARPKD). ADPKD results in the development of cysts, which are tiny fluid-filled sacs, in the kidneys. Caroli's disease is considered a rare disorder, affecting a small number of individuals worldwide...
October 2023: Middle East Journal of Digestive Diseases
https://read.qxmd.com/read/38519230/interleukin-37-a-new-therapeutic-target-in-autosomal-dominant-polycystic-kidney-disease
#6
JOURNAL ARTICLE
Bo Yang, Steven D Crowley
Autosomal dominant polycystic kidney disease (ADPKD) has long been considered a genetic renal disorder, but emerging evidence suggests that the immune microenvironment within the kidney plays a pivotal role in disease progression and severity. In recent years, the previously obscure cytokine interleukin-37 has proved a strong inhibitor of innate immunity in multiple disease models. However, its role in ADPKD has not received scrutiny. In a provocative study published in the current issue, Zylberberg et al...
April 2024: Kidney International
https://read.qxmd.com/read/38514631/asymmetric-synthesis-of-p-stereogenic-phosphindane-oxides-via-kinetic-resolution-and-their-biological-activity
#7
JOURNAL ARTICLE
Long Yin, Jiajia Li, Changhui Wu, Haoran Zhang, Wenchao Zhao, Zhiyuan Fan, Mengxuan Liu, Siqi Zhang, Mengzhe Guo, Xiaowei Dou, Dong Guo
The importance of P-stereogenic heterocycles has been widely recognized with their extensive use as privileged chiral ligands and bioactive compounds. The catalytic asymmetric synthesis of P-stereogenic phosphindane derivatives, however, remains a challenging task. Herein, we report a catalytic kinetic resolution of phosphindole oxides via rhodium-catalyzed diastereo- and enantioselective conjugate addition to access enantiopure P-stereogenic phosphindane and phosphindole derivatives. This kinetic resolution method features high efficiency (s factor up to >1057), excellent stereoselectivities (all >20:1 dr, up to >99% ee), and a broad substrate scope...
March 21, 2024: Nature Communications
https://read.qxmd.com/read/38514012/clinical-significance-of-the-cystic-phenotype-in-alport-syndrome
#8
JOURNAL ARTICLE
Letizia Zeni, Federica Mescia, Diego Toso, Chiara Dordoni, Cinzia Mazza, Gianfranco Savoldi, Laura Econimo, Roberta Cortinovis, Simona Fisogni, Federico Alberici, Francesco Scolari, Claudia Izzi
RATIONALE & OBJECTIVE: Alport Syndrome (AS) is the most common genetic glomerular disease caused by mutations that affect Type IV collagen. However, the clinical characteristics and significance of AS with kidney cysts are not well defined. This study investigated the prevalence and clinical significance of cystic kidney phenotype in AS. STUDY DESIGN: Retrospective cohort study. SETTING: & Participants: One hundred-eight patients with AS and a comparison cohort of 79 patients with IgA Nephropathy (IgAN)...
March 19, 2024: American Journal of Kidney Diseases
https://read.qxmd.com/read/38512371/native-nephrectomy-in-polycystic-kidney-disease-patients-on-transplant-lists-how-and-when
#9
REVIEW
Sidar Copur, Lasin Ozbek, Mustafa Guldan, Ahmet Umur Topcu, Mehmet Kanbay
Autosomal dominant polycystic kidney disease (ADPKD), the most common hereditary kidney disease, accounts for approximately 10% of the patients on kidney transplantation waitlists. High rates of complications including hemorrhage, infections, nephrolithiasis and kidney size-related compressive complaints have been reported among ADPKD patients. Therefore, the need for routine native nephrectomy and timing of such procedure in ADPKD patients being prepared for transplantation are debated. Even though pre-transplant nephrectomy has the potential to provide fewer infectious complications due to lack of immunosuppressive medication use, such procedure has been associated with longer hospital stay, loss of residual kidney function and need for dialysis...
March 21, 2024: Journal of Nephrology
https://read.qxmd.com/read/38511865/renal-hemodynamic-and-functional-changes-in-adpkd-patients
#10
JOURNAL ARTICLE
Ryota Ishii, Hirayasu Kai, Kentaro Nakajima, Takuya Harada, Tomoki Akiyama, Eri Okada, Ryoya Tsunoda, Toshiaki Usui, Kaori Mase, Naoki Morito, Chie Saito, Joichi Usui, Kunihiro Yamagata
BACKGROUND: Although the mechanisms underlying cyst enlargement in autosomal dominant polycystic kidney disease (ADPKD) are becoming clearer, those of renal dysfunction are not fully understood. In particular, total kidney volume (TKV) and renal function do not always correspond. To elucidate this discrepancy, we studied in detail glomerular hemodynamic changes during ADPKD progression. METHODS: Sixty-one ADPKD patients with baseline height-adjusted TKV (Ht-TKV) of 933±537 ml/m and serum creatinine of 1...
March 21, 2024: Kidney360
https://read.qxmd.com/read/38509003/long-residence-time-peptide-antagonist-for-the-vasopressin-v-2-receptor-to-treat-autosomal-dominant-polycystic-kidney-disease
#11
JOURNAL ARTICLE
Xiaochun Xiong, Naiyuan Wang, Yixiao Zhang, Wenchao Zhao, Ningning Pang, Kequan Fu, Nan Zhou, Xueyan Zhou, Dong Guo
The dysregulated intracellular cAMP in the kidneys drives cystogenesis and progression in autosomal dominant polycystic kidney disease (ADPKD). Mounting evidence supports that vasopressin V2 receptor (V2 R) antagonism effectively reduces cAMP levels, validating this receptor as a therapeutic target. Tolvaptan, an FDA-approved V2 R antagonist, shows limitations in its clinical efficacy for ADPKD treatment. Therefore, the pursuit of better-in-class V2 R antagonists with an improved efficacy remains pressing. Herein, we synthesized a set of peptide V2 R antagonists...
March 20, 2024: Journal of Medicinal Chemistry
https://read.qxmd.com/read/38494546/additional-renoprotective-effect-of-the-sglt2-inhibitor-dapagliflozin-in-a-patient-with-adpkd-receiving-tolvaptan-treatment
#12
JOURNAL ARTICLE
Shun Minatoguchi, Hiroki Hayashi, Ryosuke Umeda, Shigehisa Koide, Midori Hasegawa, Naotake Tsuboi
Autosomal dominant polycystic kidney disease (ADPKD) is a major cause of end-stage kidney disease (ESKD). Vasopressin plays a pivotal role in ADPKD progression; therefore, the selective vasopressin V2 receptor antagonist tolvaptan is used as a key drug in the management of ADPKD. On the other hand, sodium-glucose cotransporter-2 inhibitors (SGLT2i), which may possibly stimulate vasopressin secretion due to the diuretic effect of the drug, have been shown to have both renal and cardioprotective effects in various populations, including those with non-diabetic chronic kidney disease...
March 18, 2024: CEN Case Reports
https://read.qxmd.com/read/38483987/molecular-and-structural-basis-of-the-dual-regulation-of-the-polycystin-2-ion-channel-by-small-molecule-ligands
#13
JOURNAL ARTICLE
Zhifei Wang, Mengying Chen, Qiang Su, Tiago D C Morais, Yan Wang, Elianna Nazginov, Akhilraj R Pillai, Feng Qian, Yigong Shi, Yong Yu
Mutations in the PKD2 gene, which encodes the polycystin-2 (PC2, also called TRPP2) protein, lead to autosomal dominant polycystic kidney disease (ADPKD). As a member of the transient receptor potential (TRP) channel superfamily, PC2 functions as a non-selective cation channel. The activation and regulation of the PC2 channel are largely unknown, and direct binding of small-molecule ligands to this channel has not been reported. In this work, we found that most known small-molecule agonists of the mucolipin TRP (TRPML) channels inhibit the activity of the PC2_F604P, a gain-of-function mutant of the PC2 channel...
March 19, 2024: Proceedings of the National Academy of Sciences of the United States of America
https://read.qxmd.com/read/38481516/familial-variability-of-disease-severity-in-adult-patients-with-adpkd
#14
JOURNAL ARTICLE
Elhussein A E Elhassan, Patrick O'Kelly, Kane E Collins, Omri Teltsh, Francesca Ciurli, Susan L Murray, Claire Kennedy, Stephen F Madden, Katherine A Benson, Gianpiero L Cavalleri, Peter J Conlon
INTRODUCTION: Autosomal dominant polycystic kidney disease (ADPKD) is the most common monogenic nephropathy and has striking familial variability of disease severity. METHODS: To better comprehend familial phenotypic variability, we analyzed clinical and pedigree data on 92 unrelated ADPKD kindreds with ≥2 affected individuals ( N  = 292) from an Irish population. All probands underwent genetic sequencing. Age at onset of kidney failure (KF), decline in estimated glomerular filtration rate (eGFR), predicting renal outcome in polycystic kidney disease (PROPKD) score, and imaging criteria were used to assess and grade disease severity as mild, intermediate, or severe...
March 2024: KI Reports
https://read.qxmd.com/read/38481510/describing-and-explaining-adpkd-variability-within-families
#15
EDITORIAL
Sai Santhoshini Achi, Andrew J Mallett
No abstract text is available yet for this article.
March 2024: KI Reports
https://read.qxmd.com/read/38474184/the-link-between-autosomal-dominant-polycystic-kidney-disease-and-chromosomal-instability-exploring-the-relationship
#16
JOURNAL ARTICLE
Phang-Lang Chen, Chi-Fen Chen, Hugo Y-H Lin, Daniel J Riley, Yumay Chen
In autosomal dominant polycystic kidney disease (ADPKD) with germline mutations in a PKD1 or PKD2 gene, innumerable cysts develop from tubules, and renal function deteriorates. Second-hit somatic mutations and renal tubular epithelial (RTE) cell death are crucial features of cyst initiation and disease progression. Here, we use established RTE lines and primary ADPKD cells with disease-associated PKD1 mutations to investigate genomic instability and DNA damage responses. We found that ADPKD cells suffer severe chromosome breakage, aneuploidy, heightened susceptibility to DNA damage, and delayed checkpoint activation...
March 2, 2024: International Journal of Molecular Sciences
https://read.qxmd.com/read/38474131/leucine-rich-repeat-in-polycystin-1-suppresses-cystogenesis-in-a-zebrafish-danio-rerio-model-of-autosomal-dominant-polycystic-kidney-disease
#17
JOURNAL ARTICLE
Biswajit Padhy, Mohammad Amir, Jian Xie, Chou-Long Huang
Mutations of PKD1 coding for polycystin-1 (PC1) account for most cases of autosomal-dominant polycystic kidney disease (ADPKD). The extracellular region of PC1 contains many evolutionarily conserved domains for ligand interactions. Among these are the leucine-rich repeats (LRRs) in the far N-terminus of PC1. Using zebrafish ( Danio rerio ) as an in vivo model system, we explored the role of LRRs in the function of PC1. Zebrafish expresses two human PKD1 paralogs, pkd1a and pkd1b . Knockdown of both genes in zebrafish by morpholino antisense oligonucleotides produced phenotypes of dorsal-axis curvature and pronephric cyst formation...
March 1, 2024: International Journal of Molecular Sciences
https://read.qxmd.com/read/38473800/autosomal-dominant-polycystic-kidney-disease-extrarenal-involvement
#18
REVIEW
Matteo Righini, Raul Mancini, Marco Busutti, Andrea Buscaroli
Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary kidney disorder, but kidneys are not the only organs involved in this systemic disorder. Individuals with the condition may display additional manifestations beyond the renal system, involving the liver, pancreas, and brain in the context of cystic manifestations, while involving the vascular system, gastrointestinal tract, bones, and cardiac valves in the context of non-cystic manifestations. Despite kidney involvement remaining the main feature of the disease, thanks to longer survival, early diagnosis, and better management of kidney-related problems, a new wave of complications must be faced by clinicians who treated patients with ADPKD...
February 22, 2024: International Journal of Molecular Sciences
https://read.qxmd.com/read/38466666/characteristics-and-clinical-outcomes-of-patients-with-kidney-failure-of-unknown-aetiology-from-anzdata-registry
#19
JOURNAL ARTICLE
Lucy S Wang, Venkat Vangaveti, Monica S Y Ng, Andrew J Mallett
INTRODUCTION: Kidney failure of unknown aetiology (uESKD) is also heavily location dependent varying between 27% in Egypt to 54% in Aguacalientes, Mexico. There is limited information about the characteristics of people with uESKD in Australia and New Zealand, as well as their clinical outcomes on kidney replacement therapy. METHODS: Data on people commencing kidney replacement therapy 1989-2021 were received from the Australia and New Zealand Dialysis and Transplant (ANZDATA) registry...
2024: PloS One
https://read.qxmd.com/read/38464892/magnetic-resonance-imaging-based-kidney-volume-assessment-for-risk-stratification-in-pediatric-autosomal-dominant-polycystic-kidney-disease
#20
JOURNAL ARTICLE
Kubra Yilmaz, Seha Saygili, Nur Canpolat, Ozlem Akgun-Dogan, Zeynep Nagehan Yuruk Yildirim, Rumeysa Yasemin Cicek-Oksuz, Huseyin Adil Oner, Bagdagul Aksu, Nazli Gulsum Akyel, Ozge Oguzhan-Hamis, Hasan Dursun, Sevgi Yavuz, Neslihan Cicek, Nurver Akinci, Esra Karabag Yilmaz, Ayse Agbas, Ahmet Nevzat Nayir, Dildar Konukoglu, Sebuh Kurugoglu, Lale Sever, Salim Caliskan
INTRODUCTION: In the pediatric context, most children with autosomal dominant polycystic kidney disease (ADPKD) maintain a normal glomerular filtration rate (GFR) despite underlying structural kidney damage, highlighting the critical need for early intervention and predictive markers. Due to the inverse relationship between kidney volume and kidney function, risk assessments have been presented on the basis of kidney volume. The aim of this study was to use magnetic resonance imaging (MRI)-based kidney volume assessment for risk stratification in pediatric ADPKD and to investigate clinical and genetic differences among risk groups...
2024: Frontiers in Pediatrics
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