Treatment-induced copper deficiency in two patients with Wilsons disease

Copper is an essential trace element that is vital to the health of all living cells. However, like all essential elements, its serum level must be kept within normal values; otherwise, conditions of toxicity or deficiency can result, each of which has its own unique set of adverse health effects. Wilson's disease [WD] is an inherited disease of copper accumulation that can cause liver and neurological affection. Its management depends on removal of excess copper using copper chelators such as D-penicillamine or trientine, which increase the urinary excretion of copper. In a more recent approach, zinc has been used to decrease copper accumulation. We present two WD cases that developed copper deficiency as a result of their treatment. These cases improve our understanding and management of copper deficiency in WD and highlight the importance of copper-level monitoring in WD

Colchicine resistant FMF is not always true resistance

Crohn's disease and familial Mediterranean fever are both inflammatory diseases characterized by similar clinical manifestations. The concurrence of the two diseases may pose a challenge to diagnosis and treatment. In this report, we present a child with familial Mediterranean fever and undiagnosed Crohn's disease which made him apparently resistant to colchicine therapy. Symptoms of Crohn's disease were masked by the resistant fever of FMF. Amelioration of symptoms of both diseases was achieved when treatment of both diseases were gradually introduced. Searching of IBD in children with colchicines resistant FMF is mandatory, as both diseases have similar symptoms and responsible genes may modify one another

Towards an Egyptian guideline from screening to treatment of hepatocellular carcinoma [part I]

These recommendations provide a data-supported and based-evidenced approach to the screening, diagnosis, staging and treatment of Egyptian patients with hepatocellular carcinoma [HCC] in which we tried to construct an Egyptian algorithm for our Egyptian HCC patients in terms of type and timing of surveillance, readily available diagnostic tools that suit our means and the proper and efficient timely treatment that suits our resources. They are based on the experience of the authors in the specified topic and the AASLD Policy on the Development and Use of Practice Guidelines. These recommendations suggest preferred approaches to screening [for early detection of cases with hepatic nodule and/or elevated AFP], diagnosis [for accurate diagnosis of HCC cases], staging [for detection of specific category of treatment according the patient's general condition] and treatment [selection of the most suitable treatment option for the patient after his proper evaluation]. In an attempt to characterize the quality of evidence supported recommendations, the Egyptian Guidelines requires a category to be assigned and reported with each recommendation [Table I]

Towards an Egyptian guideline from screening to treatment of hepatocelhilar carcinoma [part II]

These recommendations provide a data-supported and evidence based approach to the screening, diagnosis, staging and treatment of Egyptian patients with hepatocellular carcinoma [HCC] in which we tried to construct an Egyptian algorithm for our Egyptian HCC patients in terms of type and timing of surveillance, readily available diagnostic tools that suits our means and the proper and efficient timely treatment that suits our resources. They are based on the experience of the authors in the specified topic and the AASLD Policy on the Development and Use of Practice Guidelines. These recommendations suggest preferred approaches to screening [for early detection of cases with hepatic nodule and/or elevated AFP], diagnosis [for accurate diagnosis of HCC cases], staging [for detection of specific category of treatment according the patient's general condition] and treatment [selection of the most suitable treatment option for the patient after his proper evaluation]. In an attempt to characterize the quality of evidence supported recommendations, the Egyptian Guidelines requires a category to be assigned and reported with each recommendation [Table 1]

Extrahepatie versus intrahepatic cholestasis: is it possible to differentiate?

Accurate and prompt differentiation of extrahepatic cholestasis [extrahepatic biliary atresia [EHBA] and choledochal cyst] from other causes of intrahepatic infantile cholestasis is critical in determining the therapeutic outcome of these babies as in the former case surgical correction must be undergone as soon as possible. The aim of this work is to evaluate the various modalities used for making this differentiation by finding the sensitivity, specificity and accuracy of each. This was done through retrospective analysis of data [that included the history, the examination and the investigations] collected from the files of hundred consecutive infants whose ages ranged between one day and 6 months and who presented to our hepatology unit [a tertiary referral unit]. It was found that EHBA was diagnosed in 47% of infants and choledocal cyst in 3% both of which constituted the surgical causes [group I]. On the other hand medical causes [group II] accounted for 50% of the cases [idiopathic neonatal hepatitis in 27% and other causes as inborn errors of metabolism, infections, paucity of intrahepatic bile ducts and low GGT cholestasis in 23%]. The persistent presence of clay stools was statistically more common in group I compared to group II with a sensitivity of 94%, specificity of 52%, 73% accuracy and a 66% positive predictive value, while pruritus was significantly more common in group II compared to group I. Although the presence of hepatomegaly was not statistically different between the two groups yet, the presence of firm hepatomegaly was significantly more commonly encountered in patients of group I compared to those of group II. The only laboratory investigations that showed a statistical difference between the two groups were GGT and prothrombin time as both were significantly higher in group I babies while ALT, AST, serum bilirubin and serum albumin showed no statistical difference between the two groups. HIDA scan of the liver revealed a poor uptake among group II babies while group I babies showed no excretion of the dye in the intestine with a 100% sensitivity, 55% specificity, 78% accuracy and a 100% negative predictive value. Abdominal U/S revealed that the presence of the triangular cord sign [TC sign] was more common in group I as compared to group II with 80% sensitivity, 85.7% specificity, 83.3% accuracy and 85% negative predictive value. As regards the liver biopsy it was found that a disturbed architecture and bile ductular proliferation were significantly more commonly present in group I babies compared to group II ones with a sensitivity of 100%, specificity of 80%, accuracy of 91% and a 100% negative predictive value. It is thus concluded that standard tests of liver function are not discriminating between surgical and medical causes of cholestasis. Liver biopsy has the greatest diagnostic accuracy however no single test appears to be clearly superior in the differentiation of conditions leading to cholestasis; the use of several tests may improve the diagnostic power

Effect of interferon therapy on fatty acid saturation index in hepatitis C virus infection

The ratio of stearic to oleic acids, i.e. the fatty acid saturation index, in red blood cell membranes was assayed in 60 patients with chronic hepatitis C virus infection before and after interferon-alpha therapy. Results were compared with 20 healthy controls. Hepatitis C virus titre was also assayed before and after interferon-alpha therapy. Within 2-5 months following interferon-alpha therapy, a significant inverse correlation was observed between saturation index and hepatitis C virus load. We conclude that hepatitis C virus infection enhances the degree of desaturation of 18-carbon fatty acids and that interferon-alpha is involved in their metabolism by increasing the degree of saturation and subsequent decrease in membrane fluidity

Intrafamilial transmission of hepatitis C virus Egypt

We aimed in this work at investigating the possibility of intrafamilial spread of HCV and analyzing its possible transmission routes through studying the HCV Ab and RNA status of 18 multi-transfused index children and 64 of their family members. Fourteen other children who were HCVAb and RNA negative and 36 of their family members were taken as a control group. All candidates of the study were subjected to a detailed questionnaire on risk factors for parentral exposure and eating, social and health habits. It was found that HCV prevalence among family members of the HCV positive index cases was significantly higher than among family members of the control children [31.2% vs 5.9% P < 0.05]. The highest incidence was in mothers [52.9%] followed by fathers [35.5%] then sibs [12.5%]. Index cases with an elevated ALT had a significantly higher number of HCV positive family members than those with a normal ALT [P <0.05]. Social class, age of index case and histological diagnosis of liver disease in the index case did not have a significant impact on the HCV status in family members. Also, there was a significant higher percentage of HCV positive family members among those who shared personal objects with the index case compared to those who didn't [42.5% vs 12.5% P < 0.05]

Endothelin-1 plasma level in children with chronic liver disease: Impact on renal hemodynamics and portal hypertension

The plasma level and pathophysiologic consequences of endothelin-1 [ET1], a potent vasoconstrictor with preferential action on renal vessels, have been investigated in 40 children with chronic liver disease [CLD] [27 males and 13 females; mean age = 8.62 +/- 4.04 years] and 15 sex and age matched clinically healthy children [9 males and 4 females; mean age = 8 +/- 4.17 years]. The children with CLD were divided into 3 subgroups : subgroup I [n = 13] had chronic hepatitis [CH], subgroup II [n = 13] had cirrhosis without ascites and subgroup III [n = 14] had cirrhosis and ascites. The cirrhotic children [n = 27] included 17 children in Child's A class and 10 children in Child's B + C class. Besides routine liver and renal function tests, serum electrolytes as well as a doppler duplex study of the portal vein and the arcuate arteries of both kidneys at the level of the corticomedullary junction, were done to all candidates of the study. The resistive index of renal vessels was calculated. ET-1 level was found to be significantly elevated in all groups of children with CLD. The highest level was in children of subgroup III [x = 4.26 +/- 2.12 ng/ml] followed by those in subgroup II [x = 1.49 +/- 0.61 ng/ml] and lastly came children with CH ie. subgroup I [x = 1.01 +/- 0.46 ng/ml].Children with Child's B+C cirrhosis had a significantly higher level [4.62 +/- 2.4 ng/ml] than those with Child's A cirrhosis [1.93 +/- 1.04 ng/ml]. Serum albumin had a significant negative correlation with ET-1 [r = 0.64] ET-1 level showed a significant negative correlation with serum sodium [r = 0.4]. It correlated positively with portal hypertension as indicated by a positive correlation with portal vein diameter [r = 0.48] and a negative correlation with portal vein flow velocity [r = 0.35]. The resistive index was significantly higher in patients with CLD compared to controls. It showed a significant positive correlation ET-1 [r = 0.49]. Thus, ET-l is elevated in patients with CLD; its elevation being related to the severity of liver disease. It could be involved in the pathophysiology of the hyponatraemia portal hypertension and disturbed renal hemodynamics seen in children with CLD

Toxoplasmosis in children with collagen diseases

The aim of this work was to determine the true prevalence of associated toxoplasma infection in children with collagen diseases and exclusion of cross reactivity in those patients. The results of the different serological tests in patients with collagen diseases in correlation with toxoplasmosis were discussed

role of hepatitis C virus in chronic liver disease of infants and children

Hepatitis C virus [HCV] has been increasingly recognized in patients with chronic liver disease [CLD] specially in adults where HCV antibody positivity has been reported to range between 70-80%. It is aimed in this work to identify the role of HCV in Egyptian children with chronic liver disease and its epidemiological, biochemical and histological features through studying a group of ninety one infants and children suffering from CLD. Their ages ranged between 6 months- 18 years [mean 7.75 +/- 4.3 yrs], 43 of them were females and 48 were males. HCV antibody was detected in 10.98% of the patients, HBsAg was positive in another 10.98%. None of the patients was positive for both HCV antibody and HBsAg. The patients were divided into three groups according to their serology; [group 1] HCV antibody positive [10 cases], [group 2] HBsAg positive [10 cases], [group 3] HCV antibody and HBsAg negative [71 cases]. Comparing the three groups has revealed no statistically significant difference between them in age, sex, residence, liver size, spleen size, serum bilirubin, alanine amino-transferase [ALT], aspartate aminotransferase [AST], serum albumin nor prothrombin time [PT]. On the other hand, a history of blood transfusion, surgical intervention or contact with a case of HCV within the family was statistically significant in group 1. There was also a statistically significant difference between group 1 and 3 in the symptomatology of patients [P <0.05] and the hepatic histopathology [P <0.01], group 1 patients being mostly asymptomatic and having chronic lobular hepatitis. Detailed clinical, laboratory, serological and histological description of the HCV antibody positive cases is included

Functional and ultrasonographic renal assessment in children with liver cirrhosis

Twenty Child's grade "A" cirrhotic children [9 cryptogenic, 6 posthepatitic, 2 biliary, 2 following AI CAH and one metabolic] whose ages ranged between 3 and 15 years [mean 7.1 + or ' 3.4 years] were studied clinically, biochemically and ultrasonographically for assessment of their renal performance. Seven normal children served as a control group. Serum creatinine, creatinine clearance and blood urea showed no statistically significant differences between patients and controls [P >0.05 for each]. On the other hand, the mean FENa% in patients [0.49 +/- 0.24%] was statistically significantly lower than that of controls [0.70 +/- 0.23%] [P <0.05] while their FEPO4% [16.77 +/- 7.9%] was statistically significantly higher than that of controls [9.29 +/- 6.5%] [P <0.05]. The patients' mean serum phosphorus [4.24 +/- 0.63 mg/dl] was lower than that of controls [4.86 +/- 0.83 mg/dl] [P <0.05]. Microalbuminuria, an indicator of increased glomerular permeability, was statistically significantly higher in patients [9.75 +/- 23.9 mg/dl] than controls [0.55 +/- 0.08 mg/dl] [P <0.05]. Urinary alpha 1 microglobulin, an indicator of tubular proteinuria, was also higher in patients [12.55 +/- 14.6 mg/g cr] compared to controls [1.98 +/- 4 mg/g cr] [P <0.01]. Microabluminuria correlated significantly and positively with serum creatinine [r = 0.55] and alpha 1 MG [r = 0.54] while it correlated negatively with creatinine clearance [r = 0.45] and serum albumin [r = -0.4]. Alpha 1 MG correlated significantly and positively with serum creatinine [r = 0.72], ALT [r = 0.53] and AST [r = 0.52] while it showed a significant negative correlation with serum albumin [r = -0.44]. Ultrasonographic measurements of right kidney size, left kidney size and renal parenchymal thickness in patients showed no statistically significant difference from those of controls [P >0.05 for each]. Also, all patients except two showed a normal echogenicity. Thus, although the patients with compensated cirrhosis had no clinical or laboratory evidence of renal impairment yet they had microalbuminuria and increased excretion of alpha 1 MG both of which are early predictors of glomerular and tubular dysfunction, respectively