A broad clinical spectrum of PLCε1-related kidney disease and intrafamilial variability.

Esra Karabag Yilmaz Seha Kamil Saygili Bora Gülhan Nur Canpolat Aysun Karabay Bayazıt Beltinge Demircioğlu Kiliç Nurver Akıncı Meryem Benzer Nilüfer Göknar Asli Kavaz Tufan Mukaddes Kalyoncu Hulya Nalcacioglu Demet Tekcan Gizem Yildiz Ayşe Ağbaş Ahmet Nayir Rezan Topaloğlu Salim Caliskan Fatih Ozaltin

Published in: Pediatric nephrology (Berlin, Germany) (2022)

PLCε1-related kidney disease may occur in a wide clinical spectrum, and genetic variations are not associated with clinical presentation or disease course. However, clinical presentation and histopathology appear to be important determinants for prognosis. Immunosuppressive medications in addition to angiotensin-converting enzyme inhibitors may be beneficial for selected patients. "A higher resolution version of the Graphical abstract is available as Supplementary information".

Keyphrases

angiotensin converting enzyme
angiotensin ii
newly diagnosed
ejection fraction
gene expression
healthcare
genome wide
psychometric properties
patient reported
drug induced