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, cilt.20, sa.5, ss.115-117, 2022 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 20 Sayı: 5
  • Basım Tarihi: 2022
  • Doi Numarası: 10.6002/ect.pediatricsymp2022.o37
  • Dergi Adı: Experimental and Clinical 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

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.