2025
Trends of preemptive kidney transplantation in lupus compared to other primary diseases leading to end stage kidney disease in the United States of America
Contreras G, Pagan J, Elfassy T, Bandes M, Bustamante N, Ortigosa-Goggins M, Becerra L, Mendoza J, Drexler Y, Alonso S, Roth D. Trends of preemptive kidney transplantation in lupus compared to other primary diseases leading to end stage kidney disease in the United States of America. Lupus 2025, 34: 775-786. PMID: 40391526, DOI: 10.1177/09612033251344189.Peer-Reviewed Original ResearchConceptsKidney allograft failurePreemptive kidney transplantationEnd-stage kidney diseasePolycystic kidney diseaseRisk of kidney allograft failureAll-cause mortalityUnited States Renal Data SystemNon-lupusGlomerular diseaseKidney diseaseDM recipientsLupus patientsKidney transplantationRisk of all-cause mortalityNon-lupus patientsEnd stage kidney diseaseIncident ESKD patientsStage kidney diseaseCochran-Armitage testAllograft failurePrimary diseasePoor outcomeHypertensionLupusPatientsAutosomal dominant polycystic kidney disease without apparent family history: A single-center experience.
Samuels M, Maarouf O, Zeng W, Hamrahian M, Dahl N, Zhang J. Autosomal dominant polycystic kidney disease without apparent family history: A single-center experience. Clinical Nephrology 2025 PMID: 40329829, DOI: 10.5414/cn111677.Peer-Reviewed Original ResearchAutosomal dominant polycystic kidney diseaseDisease-causing variantsDominant polycystic kidney diseaseFamily historyPolycystic kidney diseaseAutosomal dominant polycystic kidney disease phenotypeKidney diseaseHistory of autosomal dominant polycystic kidney diseaseFamily history of autosomal dominant polycystic kidney diseaseSingle-center experienceApparent family historyThomas Jefferson University HospitalGenetic test resultsADPKD patientsPKD patientsKidney functionGenetic diagnosisGenetic testingUniversity HospitalAccurate diagnosisPatientsKidney failureClinical diagnosisDisease accountPracticing nephrologistsIntracranial Aneurysms in Autosomal Dominant Polycystic Kidney Disease: A Practical Approach to Screening and Management
Borghol A, Alkhatib B, Zayat R, Ravikumar N, Munairdjy Debeh F, Ghanem A, Mina J, Mao M, Dahl N, Hickson L, Aslam N, Torres V, Brown R, Tawk R, Chebib F. Intracranial Aneurysms in Autosomal Dominant Polycystic Kidney Disease: A Practical Approach to Screening and Management. Mayo Clinic Proceedings 2025, 100: 1030-1050. PMID: 40319406, DOI: 10.1016/j.mayocp.2025.02.003.Peer-Reviewed Original ResearchConceptsAutosomal dominant polycystic kidney diseaseDominant polycystic kidney diseasePolycystic kidney diseaseIntracranial aneurysmsSubarachnoid hemorrhageFamily history of intracranial aneurysmsProgressive kidney function declineKidney diseaseSymptoms related to mass effectRisk factorsBrain magnetic resonance angiographyHistory of intracranial aneurysmsControl of risk factorsFocal neurological deficitsFollow-up careKidney function declineGenetic kidney disordersCharacteristics of intracranial aneurysmsIndicator of subarachnoid hemorrhageMagnetic resonance angiographyNonmodifiable risk factorsPrevent adverse outcomesSaccular intracranial aneurysmsCase-fatality rateThunderclap headacheCharacterizing the ADPKD-IFT140 Phenotypic Signature with Deep Learning and Advanced Imaging Biomarkers
Ghanem A, Debeh F, Borghol A, Zagorec N, Tapia A, Smith B, Paul S, Basit A, AlKhatib B, Nader N, Antoun M, Gregory A, Yang H, Schauer R, Dahl N, Hanna C, Torres V, Kline T, Harris P, Gall E, Chebib F. Characterizing the ADPKD-IFT140 Phenotypic Signature with Deep Learning and Advanced Imaging Biomarkers. Kidney International Reports 2025 DOI: 10.1016/j.ekir.2025.04.062.Peer-Reviewed Original ResearchArea under the curveHeight-adjusted total kidney volumeAutosomal dominant polycystic kidney diseaseEstimated glomerular filtrationDisease-causing variantsDevelopment cohortAdvanced imaging biomarkersTotal kidney volumeDominant polycystic kidney diseaseRetrospective cohort studyPolycystic kidney diseaseClinical presentationCyst volumeKidney volumeCyst diameterCystic indexDiverse clinical settingsLiver cystsCohort studyExternal cohortKidney diseaseLarge cystsInternational cohortGlomerular filtrationPatientsPhysiologic mechanisms underlying polycystic kidney disease
Boletta A, Caplan M. Physiologic mechanisms underlying polycystic kidney disease. Physiological Reviews 2025, 105: 1553-1607. PMID: 39938884, PMCID: PMC12174308, DOI: 10.1152/physrev.00018.2024.Peer-Reviewed Original ResearchPrimary ciliaPolycystic kidney diseaseTrafficking of proteinsHuman ciliopathiesExtracellular signalsMultiple genesKidney diseaseProtein productionMolecular basisCell biologyMonogenic disordersCyst formationGenesRenal epithelial cellsProteinCiliaBiochemical informationApical surfaceEpithelial cellsFunctional expressionPhysiological propertiesWealth of informationPhysiological mechanismsCellsFibrocystinCharacterization of the Cystic Phenotype Associated with Monoallelic ALG8 and ALG9 Pathogenic Variants
Jawaid T, Elbarougy D, Lavu S, Buia G, Senum S, Olinger E, Yang H, McDonnell S, Bublitz J, Ma J, Audrézet M, Madsen C, Schauer R, Baker T, Gregory A, Orr S, Barroso-Gil M, Neatu R, Joli G, Dahl N, Kline T, Gillion V, Dahan K, Jouret F, Perrone R, Steinman T, Peters D, Gitomer B, Watnick T, Coto E, Chebib F, Hogan M, Olson J, Larson N, Ars E, Halbritter J, Demoulin N, Torres V, Sayer J, Gall E, Harris P. Characterization of the Cystic Phenotype Associated with Monoallelic ALG8 and ALG9 Pathogenic Variants. Journal Of The American Society Of Nephrology 2025, 36: 1056-1071. PMID: 39899384, PMCID: PMC12147961, DOI: 10.1681/asn.0000000613.Peer-Reviewed Original ResearchPathogenic variantsAutosomal dominant polycystic kidney diseaseAutosomal dominant polycystic kidney disease geneCystic kidneysKidney cystsPKD phenotypeSequence dataAutosomal dominant polycystic liver diseaseALG8ALG9Kidney phenotypeGenesDominant polycystic kidney diseaseInherited nephropathyAnalysis of individualsPathogenic changesPolycystic kidney diseasePKD1PhenotypeKidney diseaseMcbBMutationsVariantsLiver diseaseKidney failureNephrectomy in autosomal dominant polycystic kidney disease: a consensus statement of the ERA Genes & Kidney Working Group
Geertsema P, Gansevoort R, Arici M, Capasso G, Gall E, Furlano M, Fuster D, Galletti F, Dos Santos V, Gomez M, Goumenos D, Halbritter J, Jambon E, Korst U, Leliveld-Kors A, Musquera M, Figueiredo A, Nijenhuis T, Olsburgh J, Pol R, Sayer J, Stippel D, Torra R, Müller R, Casteleijn N, Alam A, Bammens B, Bartram M, Birn H, Budde K, Cakiroglu F, Castro-Alonso C, Chebib F, Dahl N, de Almeida E, Demoulin N, Devuyst O, Eleftheriadis T, Prlic M, Horie S, Idrizi A, Iyasere O, Janssens P, Jouret F, Luque Y, Mallett A, Mousseaux C, Mrug M, Perrone R, Reiterova J, Robles N, Rroji M, Rudnicki M, Schmitt R, Scolari F, Tesar V, Topaloglu R, Trillini M, Weekers L, Zakrocka I, Spahia N, Kawano H, Muto S. Nephrectomy in autosomal dominant polycystic kidney disease: a consensus statement of the ERA Genes & Kidney Working Group. Nephrology Dialysis Transplantation 2025, 40: 1032-1054. PMID: 39848914, DOI: 10.1093/ndt/gfaf019.Peer-Reviewed Original ResearchAutosomal dominant polycystic kidney diseaseDominant polycystic kidney diseasePolycystic kidney diseaseKidney diseaseWork-upConsensus statementIntermediate risk proceduresAlternative to nephrectomyKidney graft functionDelphi survey roundsEvidence-based algorithmComplication rateAcceptable mortalityKidney embolizationGraft functionRenal embolizationNephrectomyKidney transplantationSurgical techniqueMultidisciplinary consultationSymptom burdenRisk proceduresSurvey roundsTransplant surgeonsEuropean AssociationP201: The clinical utility of next-generation sequencing (NGS)-based genetic testing in pediatric polycystic kidney disease
Bozkurt E, Yang H, Kemppainen J, Baker T, Najeeb M, Thompson W, Tran C, Sas D, Cramer C, Chebib F, Dahl N, Torres V, Vairo F, Harris P, Hanna C. P201: The clinical utility of next-generation sequencing (NGS)-based genetic testing in pediatric polycystic kidney disease. Genetics In Medicine Open 2025, 3: 102166. DOI: 10.1016/j.gimo.2025.102166.Peer-Reviewed Original ResearchGenetic testingPolycystic kidney disease
2024
Tolvaptan and Autosomal Dominant Polycystic Kidney Disease Progression in Individuals Aged 18-35 Years: A Pooled Database Analysis
Chebib F, Dahl N, Zhou X, Garbinsky D, Wang J, Nunna S, Oberdhan D, Fernandes A. Tolvaptan and Autosomal Dominant Polycystic Kidney Disease Progression in Individuals Aged 18-35 Years: A Pooled Database Analysis. Kidney Medicine 2024, 7: 100935. PMID: 39810815, PMCID: PMC11731472, DOI: 10.1016/j.xkme.2024.100935.Peer-Reviewed Original ResearchAutosomal dominant polycystic kidney diseaseMedian follow-upEGFR decline rateFollow-upEGFR declineIncreased risk of rapid progressionAutosomal dominant polycystic kidney disease patientsKidney failureRisk of rapid progressionStandard of care treatmentBenefits of tolvaptanTolvaptan-treated patientsChronic kidney disease stageEfficacy of tolvaptanPolycystic kidney disease progressionEffect of tolvaptanAutosomal dominant polycystic kidney disease progressionKidney disease stageDominant polycystic kidney diseaseLong-term efficacyFollow-up periodKidney disease progressionMayo imaging classificationPolycystic kidney diseaseMixed-effects modelsAdamts1 and Cyst Expansion in Polycystic Kidney Disease
Kakade V, Akman Z, Motrapu M, Cassini M, Xu L, Moeckel G, Somlo S, Cantley L. Adamts1 and Cyst Expansion in Polycystic Kidney Disease. Journal Of The American Society Of Nephrology 2024, 36: 559-570. PMID: 39514301, PMCID: PMC11975248, DOI: 10.1681/asn.0000000557.Peer-Reviewed Original ResearchAutosomal dominant polycystic kidney diseasePolycystic kidney diseaseKidney diseaseLoss of Pkd1Cyst growthInterstitial macrophage accumulationDominant polycystic kidney diseaseInterstitial mononuclear cellsReduced cyst growthDetectable phenotypeMembrane remodelingMotif 1Progressive cyst growthIsoforms of versicanSimultaneous deletionPKD2 geneTubular basement membraneDisintegrin and metalloproteinaseRNA sequencingBasement membrane remodelingPKD1Thrombospondin motifs 1Cystic enlargementMacrophage accumulationCystic dilatationAutosomal Dominant Polycystic Kidney Disease
Suarez M, Titan S, Dahl N. Autosomal Dominant Polycystic Kidney Disease. Advances In Kidney Disease And Health 2024, 31: 496-503. PMID: 39577883, DOI: 10.1053/j.akdh.2024.07.003.Peer-Reviewed Original ResearchConceptsAutosomal dominant polycystic kidney diseaseDelivery of personalized treatmentKidney diseaseKidney failureMinority of patientsDominant polycystic kidney diseaseEnd-stage kidney diseaseRisk of kidney failureCause of end-stage kidney diseasePolycystic kidney diseaseBlood pressure managementMassive hepatomegalySevere complicationsPolycystic liverIntracranial aneurysmsPersonalized treatmentNatural historyOrgan systemsDiseaseTreatmentKidneyPressure managementLiverSystem conditionsPreimplantationQualitative Analysis and Comparison of Externally Led, Patient-Focused Drug Development (EL-PFDD) Concepts for Autosomal Recessive Polycystic Kidney Disease (ARPKD) against Standardized Outcomes in Nephrology (SONG) Initiatives
Soyfer B, Fedeles S, Vanasco W, Perrone R, Liebau M, Hartung E, Dell K, Guay-Woodford L, Hoover E, Oberdhan D. Qualitative Analysis and Comparison of Externally Led, Patient-Focused Drug Development (EL-PFDD) Concepts for Autosomal Recessive Polycystic Kidney Disease (ARPKD) against Standardized Outcomes in Nephrology (SONG) Initiatives. Journal Of The American Society Of Nephrology 2024, 35: 10.1681/asn.2024fj4z3w71. DOI: 10.1681/asn.2024fj4z3w71.Peer-Reviewed Original ResearchBiomarkers of Kidney Disease Progression in ADPKD
Ghanem A, Borghol A, Debeh F, Paul S, AlKhatib B, Harris P, Garimella P, Hanna C, Kline T, Dahl N, Chebib F. Biomarkers of Kidney Disease Progression in ADPKD. Kidney International Reports 2024, 9: 2860-2882. PMID: 39435347, PMCID: PMC11492289, DOI: 10.1016/j.ekir.2024.07.012.Peer-Reviewed Original ResearchAutosomal dominant polycystic kidney diseaseDominant polycystic kidney diseaseKidney disease progressionPolycystic kidney diseaseDisease progressionMonogenic kidney disorderKidney diseaseHeight-adjusted total kidney volumeDisease severityTotal kidney volumePKD1 geneGlomerular filtration rateMayo imaging classificationBody mass indexPersonalized treatment strategiesIncreased kidney sizePathogenic variantsEfficacy of treatmentAssess disease severityTotal cyst volumeGenetic profileImprove patient outcomesPredictive biomarkersCyst volumeKidney volumeEditorial: Molecular mechanisms underlying polycystic kidney disease: from the smallest bricks to the big scenario
Di Mise A, Caplan M, Valenti G. Editorial: Molecular mechanisms underlying polycystic kidney disease: from the smallest bricks to the big scenario. Frontiers In Molecular Biosciences 2024, 11: 1429206. PMID: 38836108, PMCID: PMC11149700, DOI: 10.3389/fmolb.2024.1429206.Peer-Reviewed Original ResearchMolecular mechanismsPolycystic kidney diseasevon Meyenburg complexes are more frequently associated with cholangiocarcinoma
Jain D, Khandakar B, Ni P, Kenney B, Qin L, Deshpande V, Fiel M. von Meyenburg complexes are more frequently associated with cholangiocarcinoma. Journal Of Clinical Pathology 2024, 78: 300-306. PMID: 38729770, DOI: 10.1136/jcp-2024-209572.Peer-Reviewed Original ResearchVon Meyenburg complexesHilar CCHepatic resectionCC casesChronic viral hepatitis BAssociated liver disordersMeyenburg complexesProgress to cholangiocarcinomaDysplasia/carcinoma in situMetastatic colon carcinomaViral hepatitis BCases of CCBile duct adenomaPolycystic kidney diseaseAssociated with cholangiocarcinomaBenign lesionsCryptogenic cirrhosisHepatitis BBiliary diseaseColon carcinomaMiscellaneous disordersKidney diseaseLiver diseaseCholangiocarcinomaLiver disordersGlis2 is an early effector of polycystin signaling and a target for therapy in polycystic kidney disease
Zhang C, Rehman M, Tian X, Pei S, Gu J, Bell T, Dong K, Tham M, Cai Y, Wei Z, Behrens F, Jetten A, Zhao H, Lek M, Somlo S. Glis2 is an early effector of polycystin signaling and a target for therapy in polycystic kidney disease. Nature Communications 2024, 15: 3698. PMID: 38693102, PMCID: PMC11063051, DOI: 10.1038/s41467-024-48025-6.Peer-Reviewed Original ResearchConceptsMouse models of autosomal dominant polycystic kidney diseaseModel of autosomal dominant polycystic kidney diseasePolycystin signalingAutosomal dominant polycystic kidney diseasePolycystin-1Polycystic kidney diseaseTreat autosomal dominant polycystic kidney diseaseGlis2Primary ciliaKidney tubule cellsSignaling pathwayMouse modelDominant polycystic kidney diseasePotential therapeutic targetTranslatomeAntisense oligonucleotidesKidney diseasePolycystinMouse kidneyFunctional effectorsCyst formationTherapeutic targetInactivationFunctional targetPharmacological targetsGenetic Analysis of Severe Polycystic Liver Disease in Japan
Mizuno H, Besse W, Sekine A, Long K, Kurihara S, Oba Y, Yamanouchi M, Hasegawa E, Suwabe T, Sawa N, Ubara Y, Somlo S, Hoshino J. Genetic Analysis of Severe Polycystic Liver Disease in Japan. Kidney360 2024, 5: 1106-1115. PMID: 38689396, PMCID: PMC11371350, DOI: 10.34067/kid.0000000000000461.Peer-Reviewed Original ResearchSevere polycystic liver diseaseAutosomal dominant polycystic kidney diseaseDisease genesPolycystic liver diseasePKD2 patientsGenetic analysisWhole-exome sequencingSuspected pathogenic variantsLiver diseaseSpectrum of phenotypesPKD2 variantsExome sequencingAutosomal dominant polycystic kidney disease cohortPathogenic variantsPKD2PKD1Genetic etiologyDominant polycystic kidney diseaseGenesPolycystic kidney diseaseKidney cystsNo significant differenceKidney volumePLD patientsKidney diseaseCalcium signalling and transport in the kidney
Staruschenko A, Alexander R, Caplan M, Ilatovskaya D. Calcium signalling and transport in the kidney. Nature Reviews Nephrology 2024, 20: 541-555. PMID: 38641658, PMCID: PMC12036682, DOI: 10.1038/s41581-024-00835-z.Peer-Reviewed Original ResearchCalcium channelsCalcium levelsCalcium-binding proteinSerum calcium levelsOptimal bone mineralizationPolycystic kidney diseaseIntracellular signaling mechanismsIntracellular second messengersRegulate calcium levelsCalcium handlingSevere complicationsFiltered calciumKidney diseaseCalcium transportRenal cellsCalcium homeostasisCalcium signalingFormation of kidney stonesCalcium dysregulationPhysiological stimuliKidney stonesBone mineralizationKidneySecond messengersSignaling mechanismsKidney Stones Account for Increased Imaging Studies in Autosomal Dominant Polycystic Kidney Disease
Simmons K, Ullman L, Dahl N. Kidney Stones Account for Increased Imaging Studies in Autosomal Dominant Polycystic Kidney Disease. Kidney360 2024, 5: 707-714. PMID: 38526140, PMCID: PMC11146651, DOI: 10.34067/kid.0000000000000424.Peer-Reviewed Original ResearchAbdominal imaging studiesChronic kidney diseaseADPKD patientsImaging studiesKidney stonesChronic kidney disease controlKidney diseaseChronic kidney disease groupIncreased incidence of kidney stonesChronic kidney disease populationChronic kidney disease stagePreserved renal functionRetrospectively reviewed patientsAutosomal dominant polycystic kidney diseaseIncidence of kidney stonesDominant polycystic kidney diseaseChi-square and t-testsCoronary artery diseasePolycystic kidney diseaseCompared to controlsCyst complicationsRenal functionChart reviewLower BMIManual chart reviewA synthetic agent ameliorates polycystic kidney disease by promoting apoptosis of cystic cells through increased oxidative stress
Fedeles B, Bhardwaj R, Ishikawa Y, Khumsubdee S, Krappitz M, Gubina N, Volpe I, Andrade D, Westergerling P, Staudner T, Campolo J, Liu S, Dong K, Cai Y, Rehman M, Gallagher A, Ruchirawat S, Croy R, Essigmann J, Fedeles S, Somlo S. A synthetic agent ameliorates polycystic kidney disease by promoting apoptosis of cystic cells through increased oxidative stress. Proceedings Of The National Academy Of Sciences Of The United States Of America 2024, 121: e2317344121. PMID: 38241440, PMCID: PMC10823221, DOI: 10.1073/pnas.2317344121.Peer-Reviewed Original ResearchConceptsCyst cellsAutosomal dominant polycystic kidney diseaseMouse models of autosomal dominant polycystic kidney diseasePolycystic kidney diseaseModel of autosomal dominant polycystic kidney diseaseKidney diseaseDeveloped primersMitochondrial oxidative stressPathophysiology of autosomal dominant polycystic kidney diseaseOxidative stressInduce apoptosisMitochondrial respirationCystic cellsUp-regulating aerobic glycolysisHomozygous inactivationMonogenic causeDominant polycystic kidney diseaseAerobic glycolysisRenal replacement therapyApoptosisEnd-stage kidney diseaseAnti-tumor agentsAdult mouse modelChronic kidney diseaseAlkylate DNA
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