Two Cases With Neonatal Cholestasis and Renal Disorders Due to DCDC2 Mutation.

Düztaş, Demet; Sarı, SİNAN; Eğritaş Gürkan, ÖDÜL; Kayhan, Gülsüm; Dalgıç, AYDIN; Dalgıç, BUKET

doi:10.6002/ect.pediatricsymp2022.o37

Two Cases With Neonatal Cholestasis and Renal Disorders Due to DCDC2 Mutation.

Düztaş D. T., Sarı S., Eğritaş Gürkan Ö., Kayhan G., Dalgıç A., Dalgıç B.

Experimental and clinical transplantation : official journal of the Middle East Society for Organ Transplantation, cilt.20, sa.Suppl 3, ss.115-117, 2022 (SCI-Expanded)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 20 Sayı: Suppl 3
Basım Tarihi: 2022
Doi Numarası: 10.6002/ect.pediatricsymp2022.o37
Dergi Adı: Experimental and clinical transplantation : official journal of the Middle East Society for Organ Transplantation
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, EMBASE, MEDLINE
Sayfa Sayıları: ss.115-117
Anahtar Kelimeler: Ciliopathy, Doublecortin domain containing protein 2, Kidney, Liver
Gazi Üniversitesi Adresli: Evet

Özet

© Başkent University 2022 Printed in Turkey. All Rights Reserved.Ciliopathies are a heterogeneous group of diseases that are observed after deterioration of the ciliary structures on the cell surface that facilitate communication with the environment. Both liver and kidney involvement are frequently observed in this disease. Recently, a doublecortin domain containing protein 2 (DCDC2) mutation in a ciliopathy disease group was identified. Here, we present 2 patients with this mutation and with neonatal cholestasis and renal involvement.