الفهرس 
Title : Bleeding spectrum in Egyptian children with gaucher disease
AbstractOnly 14 pages are availabe for public view
 |  | from | 114 |  |  |
| | | from | 114 | | |
Abstract
Background:Gaucher disease (GD) is a rare, autosomal recessive genetic disorder. It is caused by a deficiency of the lysosomal enzyme, glucocerebrosidase, which leads to an accumulation of its substrate, glucosylceramide, in macrophages. In the general population, its incidence is approximately 1/40,000 to 1/60,000 births, rising to 1/800 in Ashkenazi Jews. The main cause of the cytopenia, splenomegaly, hepatomegaly, and bone lesions associated with the disease is considered to be the infiltration of the bone marrow, spleen, and liver by Gaucher cells.Objective:The purpose of this study is to report the bleeding spectrum of Egyptian children diagnosed with Gaucher disease, types 1 and 3 and receiving ERT. Methods:Children aged 0-18 years diagnosed with Gaucher disease type 1 and 3 by enzyme assay (Ý-glucocerebrosidase), Genotype or common mutations, following up in hematology outpatient clinic, New Children{u2019}s hospital, Cairo University.patients were subjected to full history taking, full clinical assessment, laboratory investigation (complete blood count,direct platelet count,prothrombin time,partial thromboplastin time,prothrombin concentration,INR,platelet function tests) and abdominal ultrasound for assessment of liver and spleen volumes.Data were analyzed using NCSS© 12 Statistical Software 2018 (NCSS, LLC. Kaysville, Utah, USA)