الفهرس 
GAUCHER DISEASEOnly 14 pages are availabe for public view
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Abstract
G
aucher disease results from mutations in the gene encoding the lysosomal enzyme glucocerebrosidase (GC) and can be divided into three clinical types on the basis of the presence and severity of neurological involvement.
Deficient GC activity leads to an accumulation of the catabolic intermediate glucocerebroside, primarily in macrophages of the reticuloendothelial system. The common clinical manifest-tations of type I Gaucher disease, including hepatomegaly, splenomegaly, and bony lesions. Neurological manifestations occur in type II and type III GD.
The aim of the study was to assess the prevalence of bone disease in Gaucher patients both clinically and radiologically as well as vitamin D receptor gene polymorphism and its correlation with disease characteristics and response to enzyme replacement therapy (ERT).
The study was carried on 25 Gaucher patients having either type I (9 patients) or III (16 patients) Gaucher disease recruited from the regular attendance of the Hematology/Oncology clinic, Children’s hospital, Ain Shams University and another control group of 18 age and sex-matched healthy individuals.
All patients in the study were subjected to full medical history, clinical examinations and the following investigations:
- Complete blood count (CBC).
- Assessment of β.glucosidase enzyme activity in peripheral blood.
- Measurement of plasma Chitotrionidase.
- Vitamin D receptor gene polymorphism, FOK1
- Abdominal sonography
- Dual-energy X-ray absorptiometry (DEXA)
- Doppler echocardiography
The study revealed:
- Height and weight Standard deviation scores were both significantly reduced in the studied patients in comparison with control group.
- Homozygous L444P was common mutations in type III GD.
- ERT reduces the incidence of splenoctomy in GD.
- Chitotriosidase level was higher in gaucher patients with osteopenia and osteoporosis so that chitotriosidase can be used as indicator for treatment response in Gaucher disease.
- Osteopenia (36%) and osteoporosis(16%) were common among our patients mainly in type III GD due to small number of patients.
- Pulmonary hypertension was common between type III gaucher patients (50%).
- There was no associations between FOK1 VDR and bone mineral density in Gaucher patients.