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