ABSTRACT
Most paediatric patients with Wilson's disease [WD] present with hepatic manifestations, but some may have neurologic or psychiatric features. Our aim was to define the clinical, biochemical features and the outcome of therapy of a group of Egyptian children diagnosed with WD. The study was carried out at the Paediatric Hepatology Unit at Cairo University Children's Hospital, Egypt; 54 patients were diagnosed with WD from 1996 to 2009. The diagnosis was based on low serum ceruloplasmin levels, increased urinary copper concentrations before or after D-penicillamine challenge and/or the presence of Kayser-Fleischer [K-F] rings. The clinical presentation was as follows: hepatic presentation in 33 patients [61%], hepato-neurologic 3 [5.5%], neurologic 5 [9.3%] and presymptomatic 13 [24%]. Twelve couples had more than one affected sib. Increased urinary copper concentrations before or after D-penicillamine challenge was found in all patients, low serum ceruloplasmin in 97% and K-F rings in 31.5%. All patients were treated with penicillamine and zinc sulphate except one presymptomatic case who was treated with zinc sulphate only. Three patients underwent liver transplantation and eight patients died after a median duration of treatment of 6 months [1-36]. The hepatic symptoms improved with treatment but the neurological symptoms remained stationary. Clinical and biochemical assays remain the standard for diagnosis of WD. Penicillamine and zinc therapy can effectively treat WD with hepatic symptoms. Liver transplantation remains life saving for those with fulminant and end stage WD. Screening for presymptomatic sibs is of utmost importance
ABSTRACT
Liver cirrhosis [LC] represents a very special and important problem in Egypt because of endemicity of bilhareziasis and its complications. Patients with liver cirrhosis have high bleeding tendency and they may develop petechies, ecchymosis, gastrointestinal bleeding, bleeding gum, epistaxis.etc. Many factors are proposed to explain this bleeding tendency in liver cirrhosis of which platelets abnormalities and alterations of both coagulation and fibrinolytic systems are the most appreciable. Epistaxis is one of the presentation of patients with liver cirrhosis. Nasal mucosal changes were found to be extensive in liver cirrhosis and these changes could not be explained upon the mentioned bleeding abnormalities only. A further pathogenic factor controlling angiogenesis may be added. Vascular Endothelial Growth Factor [VEGF] was claimed to take a part in this situation as it is one of the most important angiogenetic factors in the body. Our study focused to clear up the clinical significant of serum level of VEGF and possible nasal mucosal changes [NMC] as an example for bleeding tendency in such patients. The study included 45 patients with LC and 20 healthy controls. Patients are classified according to Child classification into three groups. Bleeding tendency in the form of epistaxis was the main complaint in a good ratio of patients and it was found to be correlated with vascular nasal changes even in patients with normal bleeding profile in those patients. Serum level of VEGF was directly proportional to the staging of L.C. Our results suggest that VEGF may have a significant new possible role for bleeding tendency in patients with L.C. as shown from its more expression and significant effect on nasal mucoas and submucosa in the form of organization, vascularization and other changes of nasal granulation tissues of those patients. These changes were found to be more and more with progression of the disease