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

Clinics and Research in Hepatology and Gastroenterology

Volumn 36, Issue 2, 2012, Pages

  Cakmak, E ^a   Alagozlu, H ^a   Yonem, O ^a   Ataseven, H ^a   Citli, S ^a   Ozer, H ^a  

^a CUMHURIYET UNIVERSITY SCHOOL OF MEDICINE   (Turkey)

Author keywords

[No Author keywords available]

Indexed keywords

ALBUMIN; ALPHA TOCOPHEROL; DIPYRONE; LACTATE DEHYDROGENASE; PROPRANOLOL; SPIRONOLACTONE; URSODEOXYCHOLIC ACID;

ADULT; ALBUMIN BLOOD LEVEL; ARTICLE; ASCITES; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CHANARIN DORFMAN SYNDROME; DESQUAMATION; ERYTHRODERMA; FEMALE; GENE SEQUENCE; GENETIC ANALYSIS; HEMATEMESIS; HUMAN; LACTATE DEHYDROGENASE BLOOD LEVEL; LIPIDOSIS; LIVER CIRRHOSIS; MELENA; NONALCOHOLIC FATTY LIVER;

ADULT; FATTY LIVER; FEMALE; HUMANS; ICHTHYOSIFORM ERYTHRODERMA, CONGENITAL; LIPID METABOLISM, INBORN ERRORS; LIVER CIRRHOSIS; MUSCULAR DISEASES; MUTATION; YOUNG ADULT;

EID: 84858623908     PISSN: 22107401     EISSN: 2210741X     Source Type: Journal    
DOI: 10.1016/j.clinre.2011.12.007     Document Type: Article

References (13)

1. Matteoni C.A., Younossi Z.M., Gramlich T., et al. Non-alcoholic fatty liver disease: a spectrum of clinical and pathological severity. Gastroenterology 1999, 116(6):1413-1419.
2. Dorfman M.L., Hershko C., Eisenberg S., et al. Ichthyosiform dermatosis with systemic lipidosis. Arch Dermatol 1974, 110(2):261-266.
3. Lefèvre C., Jobard F., Caux F., et al. Mutations in CGI-58, the gene encoding a new protein of the esterase/lipase/thioesterase subfamily, in Chanarin-Dorfman syndrome. Am J Hum Genet 2001, 69(5):1002-1012.
4. Peña-Penabad C., Almagro M., Martínez W., et al. Dorfman-Chanarin syndrome (neutral lipid storage disease): new clinical features. Br J Dermatol 2001, 144:430-432.
5. Yamaguchi T., Omatsu N., Omukae A., et al. Analysis of interaction partners for perilipin and ADRP on lipid droplets. Mol Cell Biochem 2006, 284(1-2):167-173.
6. Yamaguchi T. Crucial role of CGI-58/alpha/beta hydrolase domain-containing protein 5 in lipid metabolism. Biol Pharm Bull 2010, 33(3):342-345.
7. Lass A., Zimmermann R., Haemmerle G., et al. Adipose triglyceride lipase-mediated lipolysis of cellular fat stores is activated by CGI-58 and defective in Chanarin-Dorfman syndrome. Cell Metab 2006, 3(5):309-319.
8. Srinivasan R., Hadzić N., Fischer J., et al. Steatohepatitis and unsuspected micronodular cirrhosis in Dorfman-Chanarin syndrome with documented ABHD5 mutation. J Pediatr 2004, 144(5):662-665.
9. Cakir M., Bruno C., Cansu A., et al. Liver cirrhosis in an infant with Chanarin-Dorfman syndrome caused by a novel splice-site mutation in ABHD5. Acta Paediatr 2010, 99(10):1592-1594.
10. Ronchetti A., Prati D., Pezzotta M.G., et al. Severe steatohepatitis in a patient with a rare neutral lipid storage disorder due to ABHD5 mutation. J Hepatol 2008, 49(3):474-477.
11. Gupta P., Dhingra K.K., Kawatra V., et al. Dorfman-Chanarin syndrome with cirrhosis. Pathology 2008, 40(6):650-653.
12. Gürakan F., Kaymaz F., Koçak N., et al. A cause of fatty liver: neutral lipid storage disease with ichthyosis-electron microscopic findings. Dig Dis Sci 1999, 44(11):2214-2217.
13. Takeda K., Tanaka K., Kumamoto T., et al. Living donor liver transplantation for Dorfman-Chanarin syndrome with 1 year follow-up: case report. Transplant Proc 2010, 42(9):3858-3861.