Progressive Familial Intrahepatic Cholestasis Associated With Ubiquitin-Specific Peptidase 53 Gene Variant Presented with Acute-on-Chronic Liver Failure in Turkish Siblings
Experimental and Clinical Transplantation, cilt.22, ss.149-153, 2024 (SCI-Expanded, Scopus)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 22
- Basım Tarihi: 2024
- Doi Numarası: 10.6002/ect.pedsymp2024.o25
- Dergi Adı: Experimental and Clinical Transplantation
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
- Sayfa Sayıları: ss.149-153
- Anahtar Kelimeler: Cholestasis, Liver transplant, Low-level γ-glutamyl transferase, Neonatal cholestasis
- Gazi Üniversitesi Adresli: Evet
Özet
Progressive familial intrahepatic cholestasis represents a group of disorders characterized by defective bile excretion, which causes a multitude of clinical symptoms of variable severity and usually begins in childhood. During the past few decades, a number of gene sequence variants have been shown to be associated with progressive familial intrahepatic cholestasis, and new subtypes continue to be discovered. Sequence variants of the ubiquitin-specific peptidase 53 gene have previously been associated with a novel autosomal recessive form of cholestasis with coincident normal or low γ-glutamyl transferase, with mild phenotypes. Here, we present 2 siblings with novel homozygous sequence variants in the ubiquitin-specific peptidase 53 gene with acute-on-chronic liver failure who underwent liver transplant.