A broad clinical spectrum of PLC epsilon 1-related kidney disease and intrafamilial variability


Yilmaz E. K., Saygili S., GÜLHAN B., Canpolat N., KARABAY BAYAZIT A., KILIÇ B. D., ...Daha Fazla

PEDIATRIC NEPHROLOGY, cilt.37, sa.8, ss.1855-1866, 2022 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 37 Sayı: 8
  • Basım Tarihi: 2022
  • Doi Numarası: 10.1007/s00467-021-05371-7
  • Dergi Adı: PEDIATRIC NEPHROLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, BIOSIS, CAB Abstracts, CINAHL, EMBASE, MEDLINE, Veterinary Science Database
  • Sayfa Sayıları: ss.1855-1866
  • Anahtar Kelimeler: Children, Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Intrafamilial variability, Prognosis, PLC epsilon 1, Treatment, PLCE1, MUTATIONS, NEPHRIN, IQGAP1, GENE
  • Hacettepe Üniversitesi Adresli: Evet

Özet

Background The phenotypic and genotypic spectrum and kidney outcome of PLC epsilon 1 -related kidney disease are not well known. We attempted to study 25 genetically confirmed cases of PLC epsilon 1-related kidney disease from 11 centers to expand the clinical spectrum and to determine the relationship between phenotypic and genotypic features, kidney outcome, and the impact of treatment on outcome.