2022
An unusual cause of relapsing peritonitis in a patient on peritoneal dialysis
Nugent JT, Crana C, Warejko JK. An unusual cause of relapsing peritonitis in a patient on peritoneal dialysis. Seminars In Dialysis 2022, 35: 561-562. PMID: 35460112, DOI: 10.1111/sdi.13090.Peer-Reviewed Original ResearchThe scope of treatment of pediatric IgA vasculitis nephritis and its outcome: a Pediatric Nephrology Research Consortium study
Kallash M, Vogt BA, Zeid A, Khin E, Najjar M, Aldughiem A, Benoit E, Stotter B, Rheault M, Warejko JK, Daga A. The scope of treatment of pediatric IgA vasculitis nephritis and its outcome: a Pediatric Nephrology Research Consortium study. Pediatric Nephrology 2022, 37: 2687-2697. PMID: 35233641, DOI: 10.1007/s00467-022-05496-3.Peer-Reviewed Original ResearchConceptsKidney biopsyGraphical abstractA higher resolution versionPediatric nephrology research consortium studyUrine protein/creatinine ratioProtein/creatinine ratioAnti-metabolite agentsIgA vasculitis nephritisPercent of patientsMulticenter retrospective studyChildren ages 1Scope of treatmentIgAV nephritisIS therapyKidney outcomesVasculitis nephritisNormal eGFRMicroscopic hematuriaOlder patientsCreatinine ratioMedian ageHeavy proteinuriaImmunosuppressive agentsKidney functionProspective studyRetrospective study
2021
Epidemiology and Risk Factors for Hemodialysis Access–Associated Infections in Children: A Prospective Cohort Study From the SCOPE Collaborative
Ruebner RL, De Souza HG, Richardson T, Bedri B, Marsenic O, Iorember F, Warejko JK, Warady BA, Neu AM. Epidemiology and Risk Factors for Hemodialysis Access–Associated Infections in Children: A Prospective Cohort Study From the SCOPE Collaborative. American Journal Of Kidney Diseases 2021, 80: 186-195.e1. PMID: 34979159, DOI: 10.1053/j.ajkd.2021.11.008.Peer-Reviewed Original ResearchConceptsCatheter-associated bloodstream infectionsPatient-level risk factorsCA-BSI ratesCatheter care practicesCatheter exit siteDialysis-associated infectionsRisk factorsCare practicesCohort studyOverall median compliancePediatric dialysis centersProspective cohort studyBorderline statistical significanceIndividual patient levelQuality improvement initiativesStandardized care practicesExit siteMupirocin useSCOPE CollaborativeStandardizing CareMaintenance hemodialysisMedian compliancePatient characteristicsSignificant morbidityBloodstream infectionsAn initiative to improve pneumococcal immunization counseling in children with nephrotic syndrome
Sandokji I, Anderson LS, Warejko JK, Emerson BL, Greenberg JH. An initiative to improve pneumococcal immunization counseling in children with nephrotic syndrome. Pediatric Nephrology 2021, 37: 1333-1338. PMID: 34734331, PMCID: PMC8565641, DOI: 10.1007/s00467-021-05305-3.Peer-Reviewed Original ResearchConceptsNephrotic syndromeElectronic health recordsEHR remindersCounseling ratesProvider awarenessGraphical abstractA higher resolution versionLife-threatening pneumococcal infectionsCurrent practice guidelinesPrimary care providersQuality improvement projectVaccination counselingVaccine guidelinesProvider adherenceVaccine seriesNephrology clinicPneumococcal infectionAdditional vaccinesPractice guidelinesImmunization protocolCare providersImmunization counselingSyndromeFirst interventionHealth recordsAdherenceFanconi syndrome, nephrotic-range proteinuria, and hypoalbuminemia in a newborn—Occam’s razor or Hickam’s dictum? Questions
Nugent JT, Reardon J, Crana C, Greenberg JH, Warejko JK, Goodwin JE. Fanconi syndrome, nephrotic-range proteinuria, and hypoalbuminemia in a newborn—Occam’s razor or Hickam’s dictum? Questions. Pediatric Nephrology 2021, 37: 127-128. PMID: 34633531, DOI: 10.1007/s00467-021-05247-w.Peer-Reviewed Case Reports and Technical NotesFanconi syndrome, nephrotic-range proteinuria, and hypoalbuminemia in a newborn—Occam’s razor or Hickam’s dictum? Answers
Nugent JT, Reardon J, Crana C, Greenberg JH, Warejko JK, Goodwin JE. Fanconi syndrome, nephrotic-range proteinuria, and hypoalbuminemia in a newborn—Occam’s razor or Hickam’s dictum? Answers. Pediatric Nephrology 2021, 37: 129-132. PMID: 34633532, DOI: 10.1007/s00467-021-05255-w.Peer-Reviewed Case Reports and Technical NotesAtypical hemolytic uremic syndrome due to DGKE mutation and response to eculizumab: lessons for the clinical nephrologist
Husain D, Barron B, Barron AG, Sandokji I, Marsenic O, Warejko JK. Atypical hemolytic uremic syndrome due to DGKE mutation and response to eculizumab: lessons for the clinical nephrologist. Journal Of Nephrology 2021, 34: 1331-1335. PMID: 33751496, DOI: 10.1007/s40620-020-00925-8.Peer-Reviewed Original Research
2019
Identification of novel mutations and phenotype in the steroid resistant nephrotic syndrome gene NUP93: a case report
Sandokji I, Marquez J, Ji W, Zerillo CA, Konstantino M, Lakhani SA, Khokha MK, Warejko JK. Identification of novel mutations and phenotype in the steroid resistant nephrotic syndrome gene NUP93: a case report. BMC Nephrology 2019, 20: 271. PMID: 31315584, PMCID: PMC6637548, DOI: 10.1186/s12882-019-1458-z.Peer-Reviewed Case Reports and Technical NotesWhole-Exome Sequencing Enables a Precision Medicine Approach for Kidney Transplant Recipients
Mann N, Braun DA, Amann K, Tan W, Shril S, Connaughton DM, Nakayama M, Schneider R, Kitzler TM, van der Ven AT, Chen J, Ityel H, Vivante A, Majmundar AJ, Daga A, Warejko JK, Lovric S, Ashraf S, Jobst-Schwan T, Widmeier E, Hugo H, Mane SM, Spaneas L, Somers MJG, Ferguson MA, Traum AZ, Stein DR, Baum MA, Daouk GH, Lifton RP, Manzi S, Vakili K, Kim HB, Rodig NM, Hildebrandt F. Whole-Exome Sequencing Enables a Precision Medicine Approach for Kidney Transplant Recipients. Journal Of The American Society Of Nephrology 2019, 30: 201-215. PMID: 30655312, PMCID: PMC6362619, DOI: 10.1681/asn.2018060575.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentBostonChildChild, PreschoolCohort StudiesExome SequencingFemaleGenetic Predisposition to DiseaseGenetic TestingGraft RejectionGraft SurvivalHospitals, PediatricHumansKidney TransplantationMalePrecision MedicinePrognosisRenal Insufficiency, ChronicRetrospective StudiesRisk AssessmentSeverity of Illness IndexSurvival AnalysisTransplant RecipientsTreatment OutcomeConceptsPediatric renal transplant recipientsWhole-exome sequencingKidney transplant recipientsRenal transplant recipientsTransplant recipientsDiagnostic yieldMolecular genetic diagnosisPediatric kidney transplant recipientsSteroid-resistant nephrotic syndromeGenetic causeBoston Children's HospitalUrinary stone diseasePrecision medicine approachYears of ageMolecular diagnosisGenetic diagnosisChronic glomerulonephritisTransplant patientsRelated donorsChildren's HospitalNephrotic syndromeKidney diseaseUnknown etiologyUrinary tractClinical management
2018
Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome
Braun DA, Lovric S, Schapiro D, Schneider R, Marquez J, Asif M, Hussain MS, Daga A, Widmeier E, Rao J, Ashraf S, Tan W, Lusk CP, Kolb A, Jobst-Schwan T, Schmidt JM, Hoogstraten CA, Eddy K, Kitzler TM, Shril S, Moawia A, Schrage K, Khayyat AIA, Lawson JA, Gee HY, Warejko JK, Hermle T, Majmundar AJ, Hugo H, Budde B, Motameny S, Altmüller J, Noegel AA, Fathy HM, Gale DP, Waseem SS, Khan A, Kerecuk L, Hashmi S, Mohebbi N, Ettenger R, Serdaroğlu E, Alhasan KA, Hashem M, Goncalves S, Ariceta G, Ubetagoyena M, Antonin W, Baig SM, Alkuraya FS, Shen Q, Xu H, Antignac C, Lifton RP, Mane S, Nürnberg P, Khokha MK, Hildebrandt F. Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome. Journal Of Clinical Investigation 2018, 128: 4313-4328. PMID: 30179222, PMCID: PMC6159964, DOI: 10.1172/jci98688.Peer-Reviewed Original ResearchConceptsNuclear pore complexSteroid-resistant nephrotic syndromeCRISPR/Cas9 knockoutOrgan-specific phenotypesNephrotic syndromeRing subunitsMorpholino knockdownEssential genesEnd-stage renal diseasePore complexNPC subunitsCoimmunoprecipitation experimentsAllelic effectsNUP85CRISPR/Nup107Hypomorphic mutationsNup133WT mRNAEarly lethalityGenesImportant effectorsSubunitsMutationsRenal diseaseWhole Exome Sequencing Reveals a Monogenic Cause of Disease in ≈43% of 35 Families With Midaortic Syndrome
Warejko JK, Schueler M, Vivante A, Tan W, Daga A, Lawson JA, Braun DA, Shril S, Amann K, Somers MJG, Rodig NM, Baum MA, Daouk G, Traum AZ, Kim HB, Vakili K, Porras D, Lock J, Rivkin MJ, Chaudry G, Smoot LB, Singh MN, Smith ER, Mane SM, Lifton RP, Stein DR, Ferguson MA, Hildebrandt F. Whole Exome Sequencing Reveals a Monogenic Cause of Disease in ≈43% of 35 Families With Midaortic Syndrome. Hypertension 2018, 71: 691-699. PMID: 29483232, PMCID: PMC5843550, DOI: 10.1161/hypertensionaha.117.10296.Peer-Reviewed Original ResearchConceptsMidaortic syndromeWhole-exome sequencingExome sequencingVascular diseaseMonogenic causesExtensive vascular diseaseSevere childhood hypertensionGenotype/phenotype correlationChildhood hypertensionRare causeEtiologic diagnosisInflammatory diseasesAbdominal aortaMolecular genetic diagnosisGenetic syndromesSyndromic diseaseWhole-exome sequencing dataDiseaseSyndromePhenotype correlationGenetic diagnosisExome sequencing dataDiagnosisCauseHigh percentage
2017
Whole Exome Sequencing of Patients with Steroid-Resistant Nephrotic Syndrome
Warejko JK, Tan W, Daga A, Schapiro D, Lawson JA, Shril S, Lovric S, Ashraf S, Rao J, Hermle T, Jobst-Schwan T, Widmeier E, Majmundar AJ, Schneider R, Gee HY, Schmidt JM, Vivante A, van der Ven AT, Ityel H, Chen J, Sadowski CE, Kohl S, Pabst WL, Nakayama M, Somers MJG, Rodig NM, Daouk G, Baum M, Stein DR, Ferguson MA, Traum AZ, Soliman NA, Kari JA, El Desoky S, Fathy H, Zenker M, Bakkaloglu SA, Müller D, Noyan A, Ozaltin F, Cadnapaphornchai MA, Hashmi S, Hopcian J, Kopp JB, Benador N, Bockenhauer D, Bogdanovic R, Stajić N, Chernin G, Ettenger R, Fehrenbach H, Kemper M, Munarriz RL, Podracka L, Büscher R, Serdaroglu E, Tasic V, Mane S, Lifton RP, Braun DA, Hildebrandt F. Whole Exome Sequencing of Patients with Steroid-Resistant Nephrotic Syndrome. Clinical Journal Of The American Society Of Nephrology 2017, 13: 53-62. PMID: 29127259, PMCID: PMC5753307, DOI: 10.2215/cjn.04120417.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAdultAge of OnsetChildChild, PreschoolDNA Mutational AnalysisExome SequencingFemaleGenetic Association StudiesGenetic MarkersGenetic Predisposition to DiseaseHeredityHumansInfantMaleMutationMutation RateNephrotic SyndromePedigreePhenotypePredictive Value of TestsPrognosisYoung AdultConceptsSteroid-resistant nephrotic syndromeNephrotic syndromeWhole-exome sequencingExome sequencingMonogenic causesResistant nephrotic syndromeManagement of treatmentYears of ageCongenital nephrotic syndromeAge of onsetCausative mutationsSyndrome geneKidney transplantationInternational cohortMonogenic genesMolecular genetic diagnosisSyndromePanel sequencingAbstractTextIdentification of mutationsNonconsanguineous familiesPatientsConsanguineous familyGenetic diagnosisDiagnosis