نتایج جستجو برای: neonatal cholestasis
تعداد نتایج: 87761 فیلتر نتایج به سال:
Introduction Neonatal cholestasis is defined as prolonged elevation of serum levels of conjugated bilirubin beyond the first 14 days of life. Neonatal hyperbilirubinaemia is usually physiologic, unconjugated, and self-limited. Only 2–15% of neonates remain jaundiced past 2 weeks of life, and just 0.2–0.4% have cholestatic jaundice from either intrahepatic cholestasis or structural abnormalities...
Citrin deficiency (neonatal-onset type II citrullinemia), is an autosomal recessive metabolic disorder, caused by a mutation of the SLC25A13 gene. The defective transport between the mitochondria and the cytosol, leads to insufficient substrate for argininosuccinate synthetase (ASS) and secondary functional deficiency of ASS activity [1]. Infants with citrin deficiency, have transient intrahepa...
Citrin deficiency resulting from mutations of the SLC25A13 gene is associated with two major clinical phenotypes; neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) and adult-onset type 2 citrullinemia (CTLN2). In Korea, 6 cases of citrin deficiency were diagnosed based on biochemical and molecular findings. Four NICCD patients (2 boys and 2 girls) presented high citrulline l...
Kobayashi, A., Kawai, S., Utsunomiya, T., and Ohbe, Y. (1974). Archives of Disease in Childhood, 49, 641. Bone disease in infants and children with hepatobiliary disease. Radiological studies of bone were performed in infants and children with hepatobiliary disease. Rickets was found in 23 out of 39 patients (59%) with surgically unrepaired biliary atresia, in 4 out of 15 (27%) with surgically ...
Aluminum is a common contaminant in many components of parenteral nutrition, especially calcium and phosphate additives. Although long-term effects have been described in the literature, short-term effects are not well-known. Currently, the Food and Drug Administration recommends maintaining aluminum at <5 mcg/kg/day. This was a single center, retrospective case-control study of 102 neonatal in...
INTRODUCTION This study determined any clinical features which may help to differentiate biliary atresia (BA) from other causes of neonatal cholestasis (NC). MATERIALS AND METHODS A prospective and observational study was conducted on consecutive infants with NC referred to the University of Malaya Medical Centre, Malaysia, between November 1996 and May 2004. RESULTS The 3 most common cause...
We report a case of a newborn with cholestasis that was diagnosed as nonsyndromic Alagille syndrome. The main feature of the disease is a paucity of biliary ducts. There are two known types of the disease: the syndromic type which is associated with other congenital defects and the nonsyndromic type without other anomalies detected at birth. We describe the case and discuss its clinical and rad...
Causes of neonatal cholestasis are varied and complex with biliary sludge representing a rare etiology. Biliary sludge has been reported in association with metabolic disorders, biliary malformation, hormonal effect, and medication effect amongst others. Herein we report a case of cholestasis secondary to biliary sludge associated with recent use of diflucan (fluconazole). An infant presented o...
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