Mostafa Ibrahim Ibrahim Mekhimar creator Lubna Anas Fawaz Supervisor Magy Samir Abdelwahab Supervisor Marwa Abdelhady Abdelsamad Supervisor text theses ua Cairo Mostafa Ibrahim Ibrahim Mekhimar 2018 monographic eng

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101 P. : charts , facsimiles ; 23cm 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) specialized Mostafa Ibrahim Ibrahim Mekhimar ; Supervised Lubna Anas Fawaz , Magy Samir Abdelwahab , Marwa Abdelhady Abdelsamad Thesis (M.Sc.) - Cairo University - Faculty of Medicine - Department of Pediatrics Issued also as CD Bleeding Egyptian Gaucher disease http://172.23.153.220/th.pdf http://172.23.153.220/th.pdf EG-GiCUC 191218 20250223032503.0 eng