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