2023
Case report: Genotype-phenotype characteristics of nine novel PKD1 mutations in eight Chinese patients with autosomal dominant polycystic kidney disease
Zhuang J, Aierken A, Yalikun D, Zhang J, Wang X, Ren Y, Tian X, Jiang H. Case report: Genotype-phenotype characteristics of nine novel PKD1 mutations in eight Chinese patients with autosomal dominant polycystic kidney disease. Frontiers In Medicine 2023, 10: 1268307. PMID: 37901409, PMCID: PMC10600478, DOI: 10.3389/fmed.2023.1268307.Peer-Reviewed Case Reports and Technical NotesAutosomal dominant polycystic kidney diseaseDominant polycystic kidney diseaseKidney diseasePolycystic kidney diseaseWhole-exome sequencingNovel mutation sitesDisease progressionNovel PKD1 mutationChronic kidney diseaseRapid disease progressionGene mutationsGenotype-phenotype characteristicsPeripheral blood DNAPersonalized therapeutic strategiesAge of onsetMilder disease phenotypeCommon genetic disorderAutosomal dominant inheritancePolycystic liverADPKD patientsChinese patientsClinical dataTherapeutic strategiesClinical phenotypeEarly onset
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