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

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

Experimental and Clinical Transplantation, vol.20, no.5, pp.115-117, 2022 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 20 Issue: 5
  • Publication Date: 2022
  • Doi Number: 10.6002/ect.pediatricsymp2022.o37
  • Journal Name: Experimental and Clinical Transplantation
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, EMBASE, MEDLINE
  • Page Numbers: pp.115-117
  • Keywords: Ciliopathy, Doublecortin domain containing protein 2, Kidney, Liver
  • Gazi University Affiliated: Yes

Abstract

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.