Ahmad Ghanem , Abdul Hamid Borghol , Fadi George Munairdjy Debeh , Stefan Paul , Bassel AlKhatib , Peter C. Harris , Pranav S. Garimella , Christian Hanna , Timothy L. Kline , Neera K. Dahl , Fouad T. Chebib
{"title":"常染色体显性多囊肾肾病进展的生物标志物","authors":"Ahmad Ghanem , Abdul Hamid Borghol , Fadi George Munairdjy Debeh , Stefan Paul , Bassel AlKhatib , Peter C. Harris , Pranav S. Garimella , Christian Hanna , Timothy L. Kline , Neera K. Dahl , Fouad T. Chebib","doi":"10.1016/j.ekir.2024.07.012","DOIUrl":null,"url":null,"abstract":"<div><div>Autosomal dominant polycystic kidney disease (ADPKD) is the most common monogenic kidney disorder and the fourth leading cause of kidney failure (KF) in adults. Characterized by a reduction in glomerular filtration rate (GFR) and increased kidney size, ADPKD exhibits significant variability in progression, highlighting the urgent need for reliable and predictive biomarkers to optimize management and treatment approaches. This review explores the roles of diverse biomarkers—including clinical, genetic, molecular, and imaging biomarkers—in evaluating disease progression and customizing treatments for ADPKD. Clinical biomarkers such as biological sex, the predicting renal outcome in polycystic kidney disease <strong>(</strong>PROPKD) score, and body mass index are shown to correlate with disease severity and progression. Genetic profiling, particularly distinguishing between truncating and non-truncating pathogenic variants in the <em>PKD1</em> gene, refines risk assessment and prognostic precision. Advancements in imaging significantly enhance our ability to assess disease severity. Height-adjusted total kidney volume (htTKV) and the Mayo imaging classification (MIC) are foundational, whereas newer imaging biomarkers, including texture analysis, total cyst number (TCN), cyst-parenchyma surface area (CPSA), total cyst volume (TCV), and cystic index, focus on detailed cyst characteristics to offer deeper insights. Molecular biomarkers (including serum and urinary markers) shed light on potential therapeutic targets that could predict disease trajectory. Despite these advancements, there is a pressing need for the development of response biomarkers in both the adult and pediatric populations, which can evaluate the biological efficacy of treatments. The holistic evaluation of these biomarkers not only deepens our understanding of kidney disease progression in ADPKD, but it also paves the way for personalized treatment strategies aiming to significantly improve patient outcomes.</div></div>","PeriodicalId":5,"journal":{"name":"ACS Applied Materials & Interfaces","volume":null,"pages":null},"PeriodicalIF":8.3000,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Biomarkers of Kidney Disease Progression in ADPKD\",\"authors\":\"Ahmad Ghanem , Abdul Hamid Borghol , Fadi George Munairdjy Debeh , Stefan Paul , Bassel AlKhatib , Peter C. Harris , Pranav S. Garimella , Christian Hanna , Timothy L. Kline , Neera K. Dahl , Fouad T. Chebib\",\"doi\":\"10.1016/j.ekir.2024.07.012\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><div>Autosomal dominant polycystic kidney disease (ADPKD) is the most common monogenic kidney disorder and the fourth leading cause of kidney failure (KF) in adults. Characterized by a reduction in glomerular filtration rate (GFR) and increased kidney size, ADPKD exhibits significant variability in progression, highlighting the urgent need for reliable and predictive biomarkers to optimize management and treatment approaches. This review explores the roles of diverse biomarkers—including clinical, genetic, molecular, and imaging biomarkers—in evaluating disease progression and customizing treatments for ADPKD. Clinical biomarkers such as biological sex, the predicting renal outcome in polycystic kidney disease <strong>(</strong>PROPKD) score, and body mass index are shown to correlate with disease severity and progression. Genetic profiling, particularly distinguishing between truncating and non-truncating pathogenic variants in the <em>PKD1</em> gene, refines risk assessment and prognostic precision. Advancements in imaging significantly enhance our ability to assess disease severity. Height-adjusted total kidney volume (htTKV) and the Mayo imaging classification (MIC) are foundational, whereas newer imaging biomarkers, including texture analysis, total cyst number (TCN), cyst-parenchyma surface area (CPSA), total cyst volume (TCV), and cystic index, focus on detailed cyst characteristics to offer deeper insights. Molecular biomarkers (including serum and urinary markers) shed light on potential therapeutic targets that could predict disease trajectory. Despite these advancements, there is a pressing need for the development of response biomarkers in both the adult and pediatric populations, which can evaluate the biological efficacy of treatments. The holistic evaluation of these biomarkers not only deepens our understanding of kidney disease progression in ADPKD, but it also paves the way for personalized treatment strategies aiming to significantly improve patient outcomes.</div></div>\",\"PeriodicalId\":5,\"journal\":{\"name\":\"ACS Applied Materials & Interfaces\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":8.3000,\"publicationDate\":\"2024-10-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"ACS Applied Materials & Interfaces\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S246802492401828X\",\"RegionNum\":2,\"RegionCategory\":\"材料科学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q1\",\"JCRName\":\"MATERIALS SCIENCE, MULTIDISCIPLINARY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"ACS Applied Materials & Interfaces","FirstCategoryId":"3","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S246802492401828X","RegionNum":2,"RegionCategory":"材料科学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"MATERIALS SCIENCE, MULTIDISCIPLINARY","Score":null,"Total":0}
Autosomal dominant polycystic kidney disease (ADPKD) is the most common monogenic kidney disorder and the fourth leading cause of kidney failure (KF) in adults. Characterized by a reduction in glomerular filtration rate (GFR) and increased kidney size, ADPKD exhibits significant variability in progression, highlighting the urgent need for reliable and predictive biomarkers to optimize management and treatment approaches. This review explores the roles of diverse biomarkers—including clinical, genetic, molecular, and imaging biomarkers—in evaluating disease progression and customizing treatments for ADPKD. Clinical biomarkers such as biological sex, the predicting renal outcome in polycystic kidney disease (PROPKD) score, and body mass index are shown to correlate with disease severity and progression. Genetic profiling, particularly distinguishing between truncating and non-truncating pathogenic variants in the PKD1 gene, refines risk assessment and prognostic precision. Advancements in imaging significantly enhance our ability to assess disease severity. Height-adjusted total kidney volume (htTKV) and the Mayo imaging classification (MIC) are foundational, whereas newer imaging biomarkers, including texture analysis, total cyst number (TCN), cyst-parenchyma surface area (CPSA), total cyst volume (TCV), and cystic index, focus on detailed cyst characteristics to offer deeper insights. Molecular biomarkers (including serum and urinary markers) shed light on potential therapeutic targets that could predict disease trajectory. Despite these advancements, there is a pressing need for the development of response biomarkers in both the adult and pediatric populations, which can evaluate the biological efficacy of treatments. The holistic evaluation of these biomarkers not only deepens our understanding of kidney disease progression in ADPKD, but it also paves the way for personalized treatment strategies aiming to significantly improve patient outcomes.
期刊介绍:
ACS Applied Materials & Interfaces is a leading interdisciplinary journal that brings together chemists, engineers, physicists, and biologists to explore the development and utilization of newly-discovered materials and interfacial processes for specific applications. Our journal has experienced remarkable growth since its establishment in 2009, both in terms of the number of articles published and the impact of the research showcased. We are proud to foster a truly global community, with the majority of published articles originating from outside the United States, reflecting the rapid growth of applied research worldwide.