Evaluation of cardiopulmonary involvement in Gaucher's disease
El Gawhary, S.; Omran, S.; Sharaf-Eddine, I.
La Tunisie Medicale 77(1): 12-18
1999
ISSN/ISBN: 0041-4131 PMID: 10333691 Document Number: 6744
Gaucher's disease is the most prevalent lysosomal storage disease. It is an autosomal recessive disorder, caused by deficiency of glucocerebrosidase enzymatic activity. This is a retrospective study on 553 pediatric patients with splenomegaly selected from out patient clinics and inpatient of the. New children Hospital Cairo University from 1987 to 1997. Their ages ranged from 3 months to 12 years. All patients were subjected to the following: - Full medical history and full clinical examination. - Laboratory investigations which include C.B.C., liver and kidney functions and B.M. - Special investigations which includes splenic aspiration, E.C.G. and echocardiography for each patient. 70 patients were diagnosed Gaucher's disease by fine needle aspiration of the spleen. 8 patients were neuropathic infantile form (Type II), 62 patients were considered belonging to either the infantile type with delayed onset of neurological manifestations or type I which present in early life. This work aimed at studying the presence, nature and severity of cardiopulmonary involvement in our Egyptian patients with Gaucher disease.
Document emailed within 1 workday
