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Monogenic features of Urolithiasis: A comprehensive review

Asian Journal of Urology 2024年第2期11卷 169-179页

作者： Kyo Chul Koo Abdulghafour Halawani Victor K.F.Wong Dirk Lange Ben H.Chew Department of Urology Yonsei University College of MedicineSeoulRepublic of Korea Department of Urology King Abdulaziz UniversityJeddahSaudi Arabia Department of Urological Sciences University of British ColumbiaStone Centre at Vancouver General HospitalVancouverBritish ColumbiaCanada

Objective: Urolithiasis formation has been attributed to environmental and dietary factors. However, evidence is accumulating that genetic background can contribute to Urolithiasis formation. Advancements in the identification of monogenic causes using high-throughput sequencing technologies have shown that Urolithiasis has a strong heritable component.Methods: This review describes monogenic factors implicated in a genetic predisposition to Urolithiasis. Peer-reviewed journals were evaluated by a PubMed search until July 2023 to summarize disorders associated with monogenic traits, and discuss clinical implications of identification of patients genetically susceptible to Urolithiasis formation.Results: Given that more than 80% of urolithiases cases are associated with calcium accumulation, studies have focused mainly on monogenetic contributors to hypercalciuric urolithiases, leading to the identification of receptors, channels, and transporters involved in the regulation of calcium renal tubular reabsorption. Nevertheless, available candidate genes and linkage methods have a low resolution for evaluation of the effects of genetic components versus those of environmental, dietary, and hormonal factors, and genotypes remain undetermined in the majority of Urolithiasis formers.Conclusion: The pathophysiology underlying Urolithiasis formation is complex and multifactorial, but evidence strongly suggests the existence of numerous monogenic causes of Urolithiasis in humans.

关键词： Gene Genetic expression Inheritance pattern Urolithiasis

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Epidemiological trends of urinary tract infections,Urolithiasis and benign prostatic hyperplasia in 203 countries and territories from 1990 to 2019

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Military Medical Research 2022年第4期9卷 432-443页

作者： Cong Zhu Dan-Qi Wang Hao Zi Qiao Huang Jia-Min Gu Lu-Yao Li Xing-Pei Guo Fei Li Cheng Fang Xiao-Dong Li Xian-Tao Zeng Department of Urology Zhongnan Hospital of Wuhan UniversityWuhan 430071China Center for Evidence-Based and Translational Medicine Zhongnan Hospital of Wuhan UniversityWuhan 430071China Department of Evidence-Based Medicine and Clinical Epidemiology Second School of Clinical MedicineWuhan UniversityWuhan 430071China Institutes of Evidence-Based Medicine and Knowledge Translation Henan UniversityKaifeng 475000HenanChina Department of Urology Huaihe Hospital of Henan UniversityKaifeng 475000HenanChina

Background:Urinary tract infections(UTI),Urolithiasis,and benign prostatic hyperplasia(BPH)are three of the most common nonmalignant conditions in urology.However,there is still a lack of comprehensive and updated epidemiological data.This study aimed to investigate the disease burden of UTI,Urolithiasis,and BPH in 203 countries and territories from 1990 to 2019.Methods:Data were extracted from the Global Burden of Disease 2019,including incident cases,deaths,disabilityadjusted life-years(DALYs)and corresponding age-standardized rate(ASR)from 1990 to 2019.Estimated annual percentage changes(EAPC)were calculated to evaluate the trends of ASR.The associations between disease burden and social development degrees were analyzed using a sociodemographic index(SDI).Results:Compared with 1990,the incident cases of UTI,Urolithiasis,and BPH increased by 60.40%,48.57%,and 105.70%in 2019,respectively.The age-standardized incidence rate(ASIR)of UTI increased(EAPC=0.08),while Urolithiasis(EAPC=–0.83)and BPH(EAPC=–0.03)decreased from 1990 to 2019.In 2019,the age-standardized mortality rate(ASMR)of UTI and Urolithiasis were 3.13/100,000 and 0.17/100,000,respectively.BPH had the largest increase(110.56%)in DALYs in the past three decades,followed by UTI(68.89%)and Urolithiasis(16.95%).The burden of UTI was mainly concentrated in South Asia and Tropical Latin America,while the burden of Urolithiasis and BPH was recorded in Asia and Eastern Europe.Moreover,the ASIR and SDI of Urolithiasis in high-SDI regions from 1990to 2019 were negatively correlated,while the opposite trend was seen in low-SDI regions.In 2019,the ASIR of UTI in females was 3.59 times that of males,while the ASIR of Urolithiasis in males was 1.96 times higher than that in females.The incidence was highest in the 30–34,55–59,and 65–69 age groups among the UTI,Urolithiasis,and BPH groups,respectively.Conclusions:Over the past three decades,the disease burden has increased for UTI but decreased for Urolithiasis and BPH.The allocation of medical resources should be b

关键词： Urinary tract infections Urolithiasis Benign prostatic hyperplasia Disease burden Incidence Mortality Disability-adjusted life-years

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Medical management of Urolithiasis: Great efforts and limited progress

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Asian Journal of Urology 2024年第2期11卷 149-155页

作者： Victoria Jahrreiss Christian Seitz Fahad Quhal Department of Urology Comprehensive Cancer CenterMedical University of ViennaViennaAustria Department of Urology King Fahad Specialist HospitalDammamSaudi Arabia

Objective:To provide a comprehensive review on the existing literature on medical management of Urolithiasis.Methods:A thorough literature review was performed using Medline,PubMed/PMC,Embase,and the Cochrane Database of Systematic Reviews up to December 2022 to identify publications on the medical management of Urolithiasis.Studies that assessed dietary and pharmacologic management of Urolithiasis were reviewed;studies on medical expulsive therapy were not included in this review.Results:Medical management of Urolithiasis ranges from the prophylactic management of kidney stone disease to dissolution therapies.While most treatment concepts have been long established,large randomized controlled trials are scarce.Dietary modification and increased fluid intake remain cornerstones in the conservative management of Urolithiasis.A major limitation for medical management of Urolithiasis is poor patient compliance.Conclusion:Medical management of Urolithiasis is more important in patients with recurrent Urolithiasis and patients with metabolic abnormalities putting them at higher risk of developing stones.Although medical management can be effective in limiting stone recurrence,medical interventions often fail due to poor compliance.

关键词： Medicalmanagement Medical therapy Urolithiasis Kidneystonedisease

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Associations between IL-1RN variable number of tandem repeat, IL-1β (-511) and IL-1β (+3954) gene polymorphisms and Urolithiasis in Uighur children of China

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Asian Journal of Urology 2022年第1期9卷 51-56页

作者： Jiefeng Xiao Shukai Zheng Zhaolong Qiu Kusheng Wu Department of Preventive Medicine Shantou University Medical CollegeShantouGuangdongChina

Objective:Interleukin-1(IL-1)is a pro-inflammatory cytokine which may be related to Urolithiasis.Genetic polymorphisms of the interleukin-1beta(IL-1β)have been proposed as markers for Urolithiasis in some areas.Due to the high incidence of Urolithiasis in Uighur children(Xinjiang,China)and existence of ethnic difference,our aim is to explore the potential of IL-1 gene polymorphisms and Urolithiasis among these children.Methods:Genomic DNA extracted from peripheral blood of 115 patients and 98 controls were used for genotype polymorphisms analyses.IL-1 receptor antagonist(IL-1RN)gene variable number of tandem repeat(VNTR)gene polymorphisms were analyzed by PCR method.PCR-based restriction analysis was done for the IL-1β(-511)and IL-1β(+3954)gene polymorphisms by endonucleases Ava I and Taq I,respectively.The genotype distribution,allele frequencies,carriage rate,and haplotype frequencies were statistically analyzed.Results:No significant differences were observed in genotypic frequencies between pediatric Urolithiasis patients and control group for IL-1RN gene(χ^(2)=1.906,p=0.605),IL-1β(-511)gene(χ^(2)=0.105,p=0.949),or IL-1β(+3954)gene(χ^(2)=3.635,p=0.169).There were yet no significant differences of the allele frequencies of IL-1RN VNTR gene(p=0.779),IL-1β(-511)gene(p=0.941),and IL-1β(+3954)gene(p=0.418)in the case and control groups,as well as the carriage rate and haplotype of them(all p>0.05).Conclusions:The associations between IL-1RN VNTR,IL-1β(-511)and IL-1β(+3954)genes polymorphisms and Urolithiasis were not significant in Uighur children.The results need to be confirmed in studies with larger population sample size,as well as in other ethnic groups.

关键词： Urolithiasis Single nucleotide polymorphisms IL-1RN variable number of tandem repeat gene IL-1β(-511)gene IL-1β(+3954)gene Uighur children

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Ureteral stents in Urolithiasis

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Asian Journal of Urology 2018年第4期5卷 274-286页

作者： Matthias Beysens Thomas O.Tailly Department of Urology University Hospital GhentGhentBelgium

Ever since the ureteral stent design was fitted with a curl on both sides to prevent it from migrating up or down the ureter some 40 years ago,its use has gained tremendous momentum,aiding in the rise and evolution of endourology and has confidently kept its place in modern time urology.Over the past four decades,several designs,coating and biomaterials have been developed,trying to reduce infection,encrustation and other stent related symptoms.As the ideal stent has not yet been discovered,different ways of helping patients with their complaints have been researched.This review will cover these aspects of stent use in Urolithiasis.

关键词： Ureteral stent Prosthesis Urolithiasis Stent-related symptom Alpha-blocker

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Epidemiology of Urolithiasis in Asia

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Asian Journal of Urology 2018年第4期5卷 205-214页

作者： Yu Liu Yuntian Chen Banghua Liao Deyi Luo Kunjie Wang Hong Li Guohua Zeng Department of Urology Institute of Urology(Laboratory of Reconstructive Urology)West China HospitalSichuan UniversityChengduChina Department of Urology Minimally Invasive Surgery CenterThe First Affiliated Hospital of Guangzhou Medical UniversityGuangzhouChina

In Asia,about 1%-19.1% of the population suffer fromUrolithiasis.However,due to variations in socio-economic status and geographic locations,the prevalence and incidence have changed in different countries or regions over the years.The research for risk factors of urinary tract stones is of predominant importance.In this review,we find the prevalence of Urolithiasis is 5%-19.1% in West Asia,Southeast Asia,South Asia,aswellas somedevelopedcountries(SouthKorea and Japan),whereas,it is only 1%e8%inmost part of East Asia and North Asia.The recurrence rate ranges from 21% to 53% after 3e5 years.Calciumoxalate(75%-90%)is themost frequent component of calculi,followed by uric acid(5%-20%),calciumphosphate(6%-13%),struvite(2%-15%),apatite(1%)and cystine(0.5%-1%).The incidence of Urolithiasis reaches its peak in population agedover 30 years.Males aremore likely to suffer fromurinary calculi.Because of different dietary habits or genetic background,differences of prevalence among races or nationalities also exist.Geneticmutation of specific locus may contribute to the formation of different kinds of calculi.Dietary habits(westernized dietary habits and less fluid intake),as well as climatic factors(hot temperature andmany hours of exposure to sunshine)play a crucial role in the development of stones.Other diseases,especially metabolic syndrome,may also contribute to urinary tract stones.

关键词： Urolithiasis Epidemiology Prevalence Incidence Component Risk factors

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Retrograde intrarenal surgery:An expanding role in treatment of Urolithiasis

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Asian Journal of Urology 2018年第4期5卷 264-273页

作者： Maria Rodriguez-Monsalve Herrero Steeve Doizi Etienne Xavier Keller Vincent De Coninck Olivier Traxer Department of Urology Tenon HospitalAssistance-Publique Hopitaux de ParisParisFrance

During the past 3 decades,the surgical management of kidney stones has undergone many technological advances and one is the development of the flexible ureteroscopy.The development of this instrument as well as ancillary equipment such as baskets,graspers,and others,and improvements in lithotripsy with Holmium:YAG laser have led to expand its indications with diagnostic and therapeutic management of medical issues of the upper urinary tract such as Urolithiasis and urothelial tumors.The objective of this review is to describe its indications and results in the different scenarios for the treatment of urinary stones.

关键词： Ureteroscopy Retrograde intrarenal surgery Endourology Urolithiasis

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Flexible ureteroscopy:Technological advancements,current indications and outcomes in the treatment of Urolithiasis

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Asian Journal of Urology 2015年第3期2卷 133-141页

作者： Husain Alenezi John D.Denstedt Division of Urology Department of SurgerySchulich School of Medicine&DentistryWestern UniversityLondonOntarioCanada

The last 3 decades have witnessed great improvements in the technology and clinical applications of many minimally invasive procedures in the urological field.Flexible ureteroscopy(fURS)has advanced considerably to become a widely utilized diagnostic and therapeutic tool for multiple upper urinary tract pathologies.The most common indication for fURS is the treatment of upper urinary tract stones with the aid of Holmium:Yttrium Aluminium Garnet(YAG)laser lithotripsy.Advancements in endoscope technologies and operative techniques have lead to a broader application of fURS in the management of Urolithiasis to include larger and more complex stones.fURS has proved to be an effective and safe procedure with few contraindications.Continued progression in fURS may increase its clinical applicability and supplant other procedures as the first line treatment option for Urolithiasis.

关键词： Flexible ureteroscopy Urolithiasis Renal stone Endoscopy

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An in vitro Anti-Urolithiasis Activity of a Herbal Formulation:Spinacia oleracea L.and Coriandrum sativum L.

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Clinical Complementary Medicine and Pharmacology 2024年第1期4卷 76-84页

作者： Sumathy Raj Monica Shree Gnana Soundara Rajan Suganthi Ramasamy Rimal Isaac Rajamony Suthies Goldy Ramathilaga Ariyamuthu Monisha Sudhagar Sakthivel Gandhi Prakash Shoba Manikandan Gurusamy School of Biotechnology Dr.G.R.Damodaran College of ScienceCoimbatoreTamil NaduIndia Department of Biotechnology Dr.N.G.P Arts and Science CollegeCoimbatoreTamil NaduIndia Department of Nanotechnology Noorul Islam Centre for Higher EducationKumaracoilThuckalayKanyakumari DistrictTamil NaduIndia PG and Research Department of Biochemistry Kongunadu Arts and Science CollegeCoimbatoreTamil NaduIndia Department of Biological and Chemical Engineering Mekelle UniversityMekelleEthipoia Department of Zoology Holy Cross College(Autonomous)NagercoilTamilnaduIndia Department of Pharmaceutical Sciences Tshwane University of TechnologyArcadia CampusPretoriaSouth Africa

Background:Hard mineral and acid salt deposits that clump together in concentrated urine are known as kidney stones.A complicated chain of physicochemical events,including hyper saturation,nucleation,growth,aggrega-tion,and retention in the urinary tract,leads to Urolithiasis,the third most prevalent urinary tract issue.Numerous traditional medications and therapies are less successful in treating Urolithiasis and frequently cause recurrences.Objective:The present study is focused on evaluating the anti-Urolithiasis activities of the polyherbal formulation prepared from Spinacia oleracea L.and Coriandrum sativum L.seeds.Methods:To evaluating the anti-Urolithiasis activities of the polyherbal formulation prepared from S.oleracea and C.sativum seeds against oxalate crystals by employing an in vitro inhibition,aggregation,and nucleation assay,employing a spectrophotometer followed by microscopic observation,and further monitored by egg semiperme-able membrane model,using cystone as a standard drug.Results:In the present work,the alkaloids,glycosides,flavonoids,glycosides,phenols,saponins,steroids,tannins,terpenoids,and triterpenoids were found in the extracts of S.oleracea and C.sativum.The in vitro assays in the present study clearly indicated that all the mixture extracts readily prevented crystal nucleation,growth and ag-gregation.The aqueous extract of the mixture inhibited significant inhibitory potential against the crystallization process.Conclusion:It can be said that the phyto-constituents enriched homemade preparation possibly will be used as a medication for the management of kidney stones by dissolving the oxalate stone in the kidney.

关键词： Urolithiasis Polyherbal Egg membrane Spinacia oleracea Coriandrum sativum

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A Survey of Urolithiasis in Young Children Fed Infant Formula Contaminated with Melamine in Two Townships of Gansu,China

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Biomedical and Environmental Sciences 2012年第2期25卷 149-155页

作者： SHI Guo Qing WANG Zi Jun FENG Zi Jian GAO Yong Jun LIU Jian Di SHEN Tao LIMing YANG Jin XU Hai Bing JIANG Xiao Hong WANG Zhao Nan CAI Mei WANG Yu Min ZHU Ye Fan LIU Hui Hui WANG Rui XIONG Wei Yi WANG Zhu Tian YANG Wei Zhong HOU Pei Sen ZENG Guang WANG Yu Chinese Center for Disease Control and Prevention Beijing 100050China Gansu Provincial Center for Disease Control and Prevention Lanzhou 730000GansuChina University Hospital of Gansu Traditional Chinese Medicine Lanzhou 730020GansuChina

Objective To determine the prevalence of Urolithiasis in young children fed infant formula（IF） contaminated with melamine,and the association between IF consumption and Urolithiasis.Design A total of 2 733 children ≤3 years of age on September 1,2008 in two townships of Gansu Province,China were studied.Cases of Urolithiasis were diagnosed by ultrasonography.Milk product consumption was determined by their caregivers.Remaining IF samples were tested for melamine and cyanuric acid.Results Of 2 733 eligible children in the two townships,2 186（80%） were enrolled in our study.Overall,16.6%（362） of 2 186 children had Urolithiasis.The prevalence was 24.6% in children exclusively fed Sanlu brand IF,9.7% in those fed other IF,and 8.5% in those fed exclusively on other milk products.For children exclusively breast-fed,no Urolithiasis was found（P0.05）.The prevalence of Urolithiasis was 11.4% in children fed 400 g of Sanlu IF,rising to 37.5% in children fed over 25 600 g.Of 48 Sanlu IF samples,91.7% contained melamine（median=1 800 ppm;range=45-4 700） and 66.7% contained cyanuric acid（median=1.2 ppm;range=0.4-6.3）.Melamine was also detected in 22.2% of 36 other brand IF（median=27.5 ppm,range=4-50）.Conclusions Urolithiasis was associated with melamine-contaminated IF.Although one product caused most morbidity,other milk products may have also contributed to the outbreak.

关键词： Urolithiasis Melamine Infant formula Contamination

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