Genetic Variants Related to Increased CKD Progression—A Systematic Review

Biology, Год журнала: 2025, Номер 14(1), С. 68 - 68

Опубликована: Янв. 14, 2025

The incidence and prevalence of chronic kidney disease (CKD) are increasing worldwide. CKD is associated with high morbidity, premature mortality, healthcare costs. Genetic variants may influence development progression. This study aimed to identify the associations between allelic We performed a systematic literature review following Preferred Reporting Items for Systematic Reviews Meta-Analyses (PRISMA) guidelines. PubMed, Embase, Cochrane Central databases were used data collection. Hereditary causes excluded from analysis. A total 38 reports included. selected studies included cohort studies, case-control genome-wide association (GWASs). involved patients different ethnicities comorbid diseases. Several genetic identified in genes that encode proteins related metabolic processes, oxidative stress, immune regulation, renin–angiotensin–aldosterone pathway, epigenetics, among others. These alterations can affect protein function lead renal damage, impacting Gene polymorphisms Many these population-specific, their relevance be influenced by presence other diseases environmental factors. Larger needed confirm described here.

Язык: Английский

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The Omics‐Driven Machine Learning Path to Cost‐Effective Precision Medicine in Chronic Kidney Disease

PROTEOMICS, Год журнала: 2025, Номер unknown

Опубликована: Янв. 10, 2025

ABSTRACT Chronic kidney disease (CKD) poses a significant and growing global health challenge, making early detection slowing progression essential for improving patient outcomes. Traditional diagnostic methods such as glomerular filtration rate proteinuria are insufficient to capture the complexity of CKD. In contrast, omics technologies have shed light on molecular mechanisms CKD, helping identify biomarkers assessment management. Artificial intelligence (AI) machine learning (ML) could transform CKD care, enabling biomarker discovery diagnosis risk prediction, personalized treatment. By integrating multi‐omics datasets, AI can provide real‐time, patient‐specific insights, improve decision support, optimize cost efficiency by avoidance unnecessary treatments. Multidisciplinary collaborations sophisticated ML advance therapeutic strategies in This review presents comprehensive overview pipeline translating data into treatment, covering recent advances research, role critical need clinical validation AI‐driven discoveries ensure their efficacy, relevance, cost‐effectiveness care.

Язык: Английский

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Genetic analysis among Israeli Bedouins with kidney failure

Kidney International Reports, Год журнала: 2025, Номер unknown

Опубликована: Янв. 1, 2025

Язык: Английский

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DECODING THE UMOD GENE: IMPLICATIONS FOR CHRONIC KIDNEY DISEASE THROUGH GENETIC MECHANISMS, DIAGNOSTICS, AND THERAPEUTIC INNOVATIONS

Medical science of Uzbekistan, Год журнала: 2025, Номер 1, С. 17 - 21

Опубликована: Фев. 25, 2025

This review examines recent advances in the study of UMOD genetic variations, their functional consequences, and impact on CKD pathogenesis. It also discusses potential clinical applications as a predictive biomarker for early detection, risk stratification, targeted interventions. The development transcriptomic, proteomic, metabolomic approaches allows more comprehensive function its interactions with other metabolic pathways. Chronic kidney disease (CKD) is growing global health concern, affecting millions people worldwide. Genetic factors play crucial role etiology progression CKD, influencing susceptibility, severity, treatment response. Among these factors, gene, which encodes glycoprotein uromodulin, recognized key regulator function, tubular integrity, susceptibility. polymorphisms affect by altering sodium transport, modulating immune responses, regulating oxidative stress, thereby contributing to hypertension, nephron damage, progression. Recent GWAS (genome-wide association studies) have confirmed between an increased related complications. Additionally, significant correlation has been identified hyperuricemia, uromodulin plays uric acid transport excretion. Conclusion: Personalized medicine based genotyping opens new opportunities individualized assessment, tailored pharmacotherapy, lifestyle modifications slow promising therapeutic strategies are being developed, including pharmacological modulation expression gene therapy.The integration knowledge highlights significance pathogenesis positions it target precision nephrology, potentially improving outcomes optimizing patient management strategies.

Язык: Английский

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Biomarkers in Autosomal Dominant Tubulointerstitial Kidney Disease

Integrative Medicine in Nephrology and Andrology, Год журнала: 2025, Номер 12(1)

Опубликована: Март 1, 2025

Autosomal dominant tubulointerstitial kidney disease (ADTKD) is increasingly recognized as a significant contributor to chronic (CKD), attributed mutations in at least five genes: UMOD, MUC1, HNF1B, REN, and SEC61A1 . ADTKD typically presents slowly progressive CKD with variable clinical features such hyperuricemia tubular proteinuria, complicating its diagnosis. The often undiagnosed until advanced stages due insidious onset nonspecific indicators. This review synthesizes current knowledge on the manifestations, pathological features, emerging biomarkers of ADTKD, emphasizing complexity heterogeneity disease. Treatment options are limited, most approaches focus controlling blood pressure, uric acid levels, anemia delay failure, uncertain efficacy slowing progression. Integrative strategies, including traditional Chinese medicine (TCM), have shown promise mitigating core processes renal interstitial fibrosis may offer complementary avenue improve patient outcomes. Effective remain crucial for early diagnosis personalized interventions, future integration genomics, proteomics, metabolomics warranted reveal biological networks molecular mechanisms identifying new potential therapeutic targets.

Язык: Английский

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The Protective Role of Cinnamaldehyde in Kidney Injury: Modulation of NF-κB and PI3K/Akt Signaling Pathways

Journal for Research in Applied Sciences and Biotechnology, Год журнала: 2025, Номер 4(1), С. 132 - 141

Опубликована: Фев. 28, 2025

Chronic renal disease is defined as the presence of kidney damage or impaired function over a period at least three months, regardless origin condition. Numerous factors, including oxidative stress, inflammation, and cell death, are frequently responsible for acute chronic injury, which significant issue in field global health. Because crucial functions that they play, NF-κB PI3K/Akt signaling pathways potential therapeutic targets. These pathogenic processes mediated by these pathways. cinnamonaldehyde, naturally occurring bioactive component, has demonstrated encouraging nephroprotective properties. properties attributed to fact it contains anti-inflammatory, antioxidant, anti-apoptotic The purpose this review investigate molecular role cinnamaldehyde preventing modulating Within article, we examine involved highlight treatment disease. Although preclinical studies have protective effects, additional research, clinical trials, required validate its safety, effectiveness, uses management illness people.

Язык: Английский

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The Role of Yes‐Associated Protein in Inflammatory Diseases and Cancer

MedComm, Год журнала: 2025, Номер 6(3)

Опубликована: Март 1, 2025

Yes-associated protein (YAP) plays a central role in the Hippo pathway, primarily governing cell proliferation, differentiation, and apoptosis. Its significance extends to tumorigenesis inflammatory conditions, impacting disease initiation progression. Given increasing relevance of YAP disorders cancer, this study aims elucidate its pathological regulatory functions these contexts. Specifically, we aim investigate involvement molecular mechanisms various diseases cancers. We particularly focus on how activation, whether through Hippo-dependent or independent pathways, triggers release inflammation mediators respiratory, cardiovascular, digestive conditions. In not only promotes tumor proliferation differentiation but also modulates immune microenvironment, thereby fostering metastasis Additionally, provide an overview current YAP-targeted therapies. By emphasizing YAP's enhance our understanding protein's pivotal processes, intricate related diseases, contribute future drug development strategies targeting YAP.

Язык: Английский

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Kidney Transplantation in Congenital Abnormalities of Kidney and Urinary Tract (CAKUT)

Biomedicines, Год журнала: 2025, Номер 13(4), С. 932 - 932

Опубликована: Апрель 10, 2025

Congenital anomalies of the kidney and urinary tract (CAKUT) are a common cause chronic disease in children. Most patients will reach end-stage renal function dialysis or transplantation childhood early adulthood. Patients with CAKUT deserve careful evaluation before transplant; detailed imaging functional studies necessary, particularly presence lower abnormalities, surgical procedures advisable selected cases. A higher incidence complications has been reported after transplant CAKUT, mainly infections. However, long term, prognosis seems to be comparable other diseases. large number reports available literature on medical management before, during, almost all recommendations based retrospective not controlled personal opinions; prospective needed. In this narrative, nonsystematic review, we report results recently published underline questions that should addressed future guidelines.

Язык: Английский

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Implementation of a kidney genetic service into the diagnostic pathway for patients with chronic kidney disease in Canada.

Kidney International Reports, Год журнала: 2024, Номер unknown

Опубликована: Ноя. 1, 2024

Genetic kidney disease (GKD) accounts for 10% to 20% of chronic (CKD). testing using gene panel or targeted exome sequencing (ES) can confirm GKD; however, integration into clinical practice has been hampered by small studies, selective populations, and data predominately derived from research settings. Using prespecified referral criteria a diagnostic pipeline, we performed prospective cohort study describing efficacy utility genetic assessment in patients with CKD. We analyzed 300 participants (256 families) referred genetics clinic, between March 2020 2024. Testing strategies included panels, if negative unsuitable, ES analysis. was the detection variants genes known cause identified causative variant 33% families (85/256). Diagnostic yield increased 23% (n = 70/300) alone, 34% 103/300) comprehensive testing. The median time first diagnosis CKD long at 10.4 years. Following assessment, receive positive result 2.9 months. Multiple levels were recorded receiving diagnosis, varying across subtype. Instituting guidelines standardized algorithm established one-third participants, providing insight viability integrating pathway. Considering potential utility, reduce are needed.

Язык: Английский

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ACVR1 mediates renal tubular EMT in kidney fibrosis via AKT activation

Cellular Signalling, Год журнала: 2024, Номер unknown, С. 111521 - 111521

Опубликована: Ноя. 1, 2024

Язык: Английский

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