Gaucher disease: new developments in treatment and etiology.
Gaucher disease (GD) is an autosomal recessive disease which if undiagnosed or diagnosed late results in devastating complications. Because of the heterozygous nature of GD, there is a wide spectrum of clinical presentation. Clinicians should be aware of this rare but potentially treatable disease in patients who present with unexplained organomegaly, anemia, massive splenomegaly, ascites and even cirrhosis of unknown origin. The treatment options for adult type GD include enzyme replacement treatment (ERT) and substrate reduction treatment (SRT) depending on the status of the patient. Future treatment options are gene therapy and "smart molecules" which provide specific cure and additional treatment options. In this review, we present the key issues about GD and new developments that gastroenterologists should be aware of.
Harmanci
Ozgur
O
Department of Gastroenterology, Hacettepe University Faculty of Medicine, Sihhiye 06100, Ankara, Turkey. ozgurmd@hacettepe.edu.tr
Bayraktar
Yusuf
Y
D004791:Enzyme Inhibitors / Q000627:therapeutic use*; D005767:Gastrointestinal Diseases / Q000209:etiology / Q000628:therapy; D005776:Gaucher Disease / Q000150:complications / Q000201:enzymology / Q000209:etiology* / Q000473:pathology / Q000628:therapy*; D015316:Genetic Therapy / Q000379:methods; D005962:Glucosylceramidase / Q000172:deficiency / Q000627:therapeutic use*; D065089:Glycoside Hydrolase Inhibitors; D006801:Humans; D016896:Treatment Outcome; D000520:alpha-Glucosidases / Q000378:metabolism
D004791:Enzyme Inhibitors; D065089:Glycoside Hydrolase Inhibitors; D000520:alpha-Glucosidases; D005962:Glucosylceramidase