Next Article in Journal
Comparison of C-reactive Protein Levels in Patients with Lung Cancer and Chronic Obstructive Pulmonary Disease
Previous Article in Journal
Arthroscopic Coracoid Transposition for Recurrent Shoulder Anterior Instability. An Operative Technique
Medicina is published by MDPI from Volume 54 Issue 1 (2018). Articles in this Issue were published by another publisher in Open Access under a CC-BY (or CC-BY-NC-ND) licence. Articles are hosted by MDPI on as a courtesy and upon agreement with Lithuanian Medical Association, Lithuanian University of Health Sciences, and Vilnius University.
Open AccessArticle

Gaucher’s Disease in Lithuania: Its Diagnosis and Treatment

Center of Oncohematology, Vilnius University Children’s Hospital, Lithuania
Department of Metabolic Diseases Endocrinology and Diabetology, The Children’s Memorial Health Institute, Warsaw, Poland
Department of Genetics, Institute of Psychiatry and Neurology, Warsaw, Poland
Author to whom correspondence should be addressed.
Medicina 2011, 47(7), 405;
Received: 15 November 2010 / Accepted: 27 July 2011 / Published: 1 August 2011
Gaucher’s disease is a lysosomal storage disease caused by the lack of beta-glucocerebrosidase enzyme, leading to the accumulation of glucocerebroside. Gaucher’s disease is the most frequent type of sphingolipidosis as well as the most frequent lysosomal disease. Clinically, two forms of Gaucher’s disease are defined: nonneuronopathic form, so-called type 1, characterized by hepatosplenomegaly, thrombocytopenia, anemia, and osteopenia, and neuronopathic form, known as types 2 and 3, which are also characterized by hepatosplenomegaly, hematological and bone changes; however, involvement of the central nervous system dominates in the clinical picture. Severe deficiency of beta-glucocerebrosidase activity allows confirming the diagnosis based on the clinical picture or the findings of bone marrow examination. Treatment with human glucocerebrosidase was introduced in 1991. Clinically good results are achieved: not only accumulation of glucocerebroside is stopped, but also positive changes in the reticuloendothelial system and an improvement in development and hematological parameters of children are observed as well as the development of bone lesions is reduced. To date, Gaucher’s disease has been diagnosed in 8 patients in Lithuania: 3 persons have type 3 and 5 have type 1 disease. Enzyme replacement therapy was started in 2001, and currently 6 persons are being treated. In majority of patients, Gaucher’s disease was suspected after exclusion of other possible proliferative diseases. All patients within the first or second year of treatment achieved the therapeutic goals, namely: normalization of hematological parameters, reduction in liver and spleen volumes, and bone pain relief.
Keywords: Gaucher’s disease; lysosomal storage disease; glucocerebrosidase; hepatosplenomegaly Gaucher’s disease; lysosomal storage disease; glucocerebrosidase; hepatosplenomegaly
MDPI and ACS Style

Kleinotienė, G.; Tylki-Szymanska, A.; Czartoryska, B. Gaucher’s Disease in Lithuania: Its Diagnosis and Treatment. Medicina 2011, 47, 405.

Show more citation formats Show less citations formats
Note that from the first issue of 2016, MDPI journals use article numbers instead of page numbers. See further details here.

Article Access Map by Country/Region

Only visits after 24 November 2015 are recorded.
Back to TopTop