2021
Case Report: The Monogenic Familial Steroid-Resistant Nephrotic Syndrome Caused by a Novel Missense Mutation of NPHS2 Gene A593C in a Chinese Family
Bai L, Zhuang J, Zhang C, Lu C, Tian X, Jiang H. Case Report: The Monogenic Familial Steroid-Resistant Nephrotic Syndrome Caused by a Novel Missense Mutation of NPHS2 Gene A593C in a Chinese Family. Frontiers In Pediatrics 2021, 9: 692727. PMID: 34631609, PMCID: PMC8497038, DOI: 10.3389/fped.2021.692727.Peer-Reviewed Case Reports and Technical NotesSteroid-resistant nephrotic syndromeEnd-stage kidney diseaseFocal segmental glomerulosclerosisNephrotic syndromeHeterozygous asymptomatic carriersRenal pathological lesionsGene variantsTrio whole-exome sequencingPrediction of prognosisAutosomal recessive steroid-resistant nephrotic syndromeWhole-exome sequencingMissense mutationsRituximab treatmentProgressive proteinuriaGlomerular filtration barrierMale patientsCalcineurin inhibitorsKidney diseaseAsymptomatic carriersSegmental glomerulosclerosisHemodialysis treatmentTreatment strategiesFamilial steroid-resistant nephrotic syndromePathological lesionsConsanguineous Chinese family
2020
Inhibiting calpain 1 and 2 in cyclin G associated kinase–knockout mice mitigates podocyte injury
Tian X, Inoue K, Zhang Y, Wang Y, Sperati CJ, Pedigo CE, Zhao T, Yan M, Groener M, Moledina DG, Ebenezer K, Li W, Zhang Z, Liebermann D, Greene L, Greer P, Parikh CR, Ishibe S. Inhibiting calpain 1 and 2 in cyclin G associated kinase–knockout mice mitigates podocyte injury. JCI Insight 2020, 5: e142740. PMID: 33208557, PMCID: PMC7710277, DOI: 10.1172/jci.insight.142740.Peer-Reviewed Original ResearchConceptsCalpain-1Chronic kidney diseaseDegree of proteinuriaCalpain inhibitor IIIGlomeruli of patientsProgressive proteinuriaCalpain protease activityGlobal glomerulosclerosisGlomerular injuryKidney functionKidney diseaseKidney failureCalcium dysregulationPodocyte injuryPodocyte-specific deletionPodocyte damageG associated kinaseProtective roleCalpain activationProteinuriaGlomerulosclerosisMiceReduced expressionStriking increaseInjury