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; AĞBAŞ, AYŞE; Nayir, Ahmet; TOPALOĞLU, REZAN; ÇALIŞKAN, SALİM; ÖZALTIN, FATİH

doi:10.1007/s00467-021-05371-7

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

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

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

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
İstanbul Üniversitesi-Cerrahpaşa 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.