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

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

PEDIATRIC NEPHROLOGY, vol.37, no.8, pp.1855-1866, 2022 (SCI-Expanded)

Publication Type: Article / Article
Volume: 37 Issue: 8
Publication Date: 2022
Doi Number: 10.1007/s00467-021-05371-7
Journal Name: PEDIATRIC NEPHROLOGY
Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, BIOSIS, CAB Abstracts, CINAHL, EMBASE, MEDLINE, Veterinary Science Database
Page Numbers: pp.1855-1866
Keywords: Children, Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Intrafamilial variability, Prognosis, PLC epsilon 1, Treatment, PLCE1, MUTATIONS, NEPHRIN, IQGAP1, GENE
Çukurova University Affiliated: Yes

Abstract

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.