Clinical and Genetic Characteristics of Egyptian patients with Gaucher Disease

Abstract

D is one of the most common lysosomal storage diseases. Type III is the most common type in Egypt. Hepatosplenomegaly is the most prevalent presenting symptom; also it is a prevalent clinical sign on examination of all Type III patients at presentation. Delay in development was most observed in Type III in language, cognitive and fine motor aspects. Pallor was prevalent across all types of GD. Skeletal manifestations (kyphosis) are very common in GD type III patients. After period of ERT treatment, there was a significant decrease in spleen and liver sizes, significant increase in hemoglobin level and platelet count, and no significant difference was found in severity of the disease. Skeletal manifestations (kyphosis) were not improved after period of ERT treatment. Non-neuropathic type I and type III GD were the only clinical types found in our study. L444P is the most common type of mutation in Egypt with homozygous N370S mutations were the most frequent genotypes in type I GD patients, while homozygous L444P mutation was the only encountered genotype in patients with type III GD. GD patients were susceptible to psychiatric disorders such as behavioral and emotional disorders. Early diagnosis and treatment was accompanied with good prognosis and less complications. CONCLUSION