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

Yilmaz, Esra; Saygili, Seha; GÜLHAN, BORA; Canpolat, Nur; KARABAY BAYAZIT, AYSUN; KILIÇ, BELTİNGE; Akinci, Nurver; Benzer, Meryem; GÖKNAR, NİLÜFER; KAVAZ TUFAN, ASLI; KALYONCU, MUKADDES; Nalcacioglu, Hulya; Tekcan, Demet; YILDIZ, GİZEM; Agbas, Ayse; Nayir, Ahmet; TOPALOĞLU, REZAN; Caliskan, Salim; ÖZALTIN, FATİH

doi:10.1007/s00467-021-05371-7

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

Atıf İçin Kopyala

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)

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.