Steatohepatitis and liver cirrhosis in Chanarin-Dorfman syndrome with a new ABDH5 mutation

Cakmak, E.; Alagozlu, H.; Yonem, O.; Ataseven, HİLMİ; Citli, S.; Ozer, H.

doi:10.1016/j.clinre.2011.12.007

Steatohepatitis and liver cirrhosis in Chanarin-Dorfman syndrome with a new ABDH5 mutation

Atıf İçin Kopyala

Cakmak E., Alagozlu H., Yonem O., Ataseven H., Citli S., Ozer H.

CLINICS AND RESEARCH IN HEPATOLOGY AND GASTROENTEROLOGY, cilt.36, sa.2, 2012 (SCI-Expanded)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 36 Sayı: 2
Basım Tarihi: 2012
Doi Numarası: 10.1016/j.clinre.2011.12.007
Dergi Adı: CLINICS AND RESEARCH IN HEPATOLOGY AND GASTROENTEROLOGY
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Sivas Cumhuriyet Üniversitesi Adresli: Evet

Özet

Chanarin-Dorfman syndrome (CDS) is an autosomal recessive neutral lipid storage disease. It is very rare and characterized by ichtiosis, intracellular fat droplets in leucocytes (Jordan anomaly) and involvement of multiple tissues (skeletal muscle, central nervous system, bone marrow, eye and ear) mainly the liver. Our patients were diagnosed as CDS because they had ichtiosis, Jordon anomaly of leucocytes in peripheral blood smear, liver involvement and presence of homozygous 88 insertion C frame shift mutation on exon 4 of ABHD5/CGI-58 gene in genetic analysis. Our cases were two sisters. One of them developed severe steatohepatitis on age 19 and the other one was diagnosed as decompensated cirrhosis when she was 26 years old. We report here a new mutation in comparative gene identification-58 (CGI-58) gene causing syndactyly and steatohepatitis induced early cirrhosis. (c) 2011 Elsevier Masson SAS. All rights reserved.