Chanarin-Dorfman Syndrome: A comprehensive review

ÇAKMAK E., Bagci G.

LIVER INTERNATIONAL, cilt.41, sa.5, ss.905-914, 2021 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Derleme
  • Cilt numarası: 41 Sayı: 5
  • Basım Tarihi: 2021
  • Doi Numarası: 10.1111/liv.14794
  • Dergi Adı: LIVER INTERNATIONAL
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, BIOSIS, Biotechnology Research Abstracts, CAB Abstracts, EMBASE, MEDLINE, Veterinary Science Database
  • Sayfa Sayıları: ss.905-914
  • Anahtar Kelimeler: CGI-58, Chanarin-Dorfman syndrome, ichthyosis, non-alcoholic steatohepatitis
  • Sivas Cumhuriyet Üniversitesi Adresli: Evet

Özet

The Chanarin-Dorfman syndrome (CDS) is a rare, autosomal recessively inherited genetic disease. This syndrome is associated with a decrease in the lipolysis activity in multiple tissue cells because of recessive mutations in the abhydrolase domain containing 5 (ABHD5) gene, which leads to the accumulation of lipid droplets in multiple types of cells. Major clinical symptoms in patients with CDS include ichthyosis and intracytoplasmic lipid droplets. The variability of clinical symptoms in patients with CDS depends on a large number of mutations involved. In this syndrome, liver involvement is an important cause of mortality and morbidity. This review aims to summarize the demographic characteristic, clinical symptoms, liver involvement and mutations in CDS patients in the literature to date.