1/10. The effect of repeated phlebotomy on bilirubin turnover, bilirubin clearance and unconjugated hyperbilirubinaemia in the crigler-najjar syndrome and the jaundiced Gunn rat: application of computers to experimental design.1. A multicompartmental model of erythrokinetics and bilirubin production has been developed to predict the consequences of chronic phlebotomy on daily bilirubin turnover. 2. Control values for four physiological variables including bilirubin turnover were determined in a 20-year-old woman with type I congenital nonhaemolytic jaundice (crigler-najjar syndrome). With these base-line data, the model predicted the following changes during phlebotomy: a 34% fall in bilirubin turnover; a 240% increase in the haemoglobin content of bone-marrow erythroid precursors; a 25% fall in the half-life of 51Cr-labelled erythrocytes; a characteristic alteration of the erythrocyte survival curve after labelling with [2-14C]glycine. 3. On the assumption, previously validated in normal volunteer subjects and patients with Gilbert's syndrome, that hepatic bilirubin clearance was independent of turnover and would therefore remain unchanged, a fall in plasma unconjugated bilirubin concentration during phlebotomy from 436 to 282 mumol/1 was expected. 4. Accordingly, the patient underwent phlebotomy 350 ml/week for 2 months, and 500 ml/week during an additional 3 months. Appropriate studies during phlebotomy confirmed each of the predictions in paragraph 2 above. In particular, turnover fell by 31%. Unexpectedly, plasma unconjugated bilirubin remained essentially unchanged. Analogous results were observed in phlebotomized jaundiced Gunn rats. 5. Kinetic studies in both the patient and the rats demonstrated that the failure of plasma unconjugated bilirubin to fall in parallel with bilirubin turnover resulted from a prolongation of the terminal half-life of radioactively labelled bilirubin and a fall in bilirubin clearance in every instance. 6. These studies indicate that (a) in congenital non-haemolytic jaundice, bilirubin clearance is uniquely influenced by bilirubin turnover and (b) compartmental modelling and kinetic studies are useful for predicting and interpreting the results of both physiological experiments and experimental therapeutic regimens.- - - - - - - - - - ranking = 1keywords = jaundice (Clic here for more details about this article) |
2/10. Rotor's syndrome: report of one case.Rotor's syndrome is a rare hereditary non-hemolytic hyperbilirubinemia. This report concerns an 11-year-old boy who presented with fluctuant jaundice since birth. liver function tests showed conjugated hyperbilirubinemia with normal serum aminotransferase and globulin level. The diagnosis was confirmed by laboratory workup which included normal liver histology and oral cholecystography and typical sulfobromophthalein excretion curve.- - - - - - - - - - ranking = 0.14285714285714keywords = jaundice (Clic here for more details about this article) |
3/10. Dual hereditary jaundice: simultaneous occurrence of mutations causing Gilbert's and Dubin-Johnson syndrome.BACKGROUND & AIMS: Dubin-Johnson syndrome is recessively inherited, conjugated hyperbilirubinemia induced by mutations in the ABCC2/MRP2 gene encoding the canalicular transporter for conjugated bilirubin. Gilbert's syndrome is recessively inherited, unconjugated hyperbilirubinemia caused by decreased conjugation rate of bilirubin associated mostly with homozygous A(TA) 7 TAA variant of the TATAA-box in the UGT1A1 gene promoter. Our aim was to establish the molecular diagnosis in a 3-year-old male with atypical, intermittent, predominantly unconjugated, hyperbilirubinemia. methods: 99m Tc-HIDA cholescintigraphy was used for imaging the biliary tree. Expression of ABCC2/MRP2 protein in hepatocytes was investigated immunohistochemically. UGT1A1 and ABCC2/MRP2 genes were sequenced from genomic dna, and the mutations were verified by fragment analysis, sequencing the cloned exons, and restriction fragment length polymorphism. RESULTS: Cholescintigraphy revealed delayed visualization of the gallbladder. A brown granular lipopigment differing from melanin-like pigment reported in Dubin-Johnson syndrome was present in hepatocytes, but, otherwise, liver histology was normal. ABCC2/MRP2 protein was not detected on the canalicular membrane of hepatocytes, and 2 novel mutations were found in the ABCC2/MRP2 gene: a heterozygous in-frame insertion-deletion mutation 1256insCT/delAAACAGTGAACCTGATG in exon 10 inherited from the father and a heterozygous deletion 4292delCA in exon 30 inherited from the mother. In addition, the patient was homozygous for -3279T>G and A(TA) 7 TAA mutations in the UGT1A1 gene promoter. CONCLUSIONS: Our patient represents a case of digenic mixed hyperbilirubinemia-a distinct type of constitutive jaundice resulting from coinherited defects in ABCC2/MRP2 and UGT1A1 genes.- - - - - - - - - - ranking = 0.71428571428571keywords = jaundice (Clic here for more details about this article) |
4/10. Primary shunt hyperbilirubinaemia: a variant of the congenital dyserythropoietic anaemias.A 19 year old Mauritian male presented with episodic nausea, abdominal discomfort and jaundice. Unconjugated hyperbilirubinaemia and erythroid hyperplasia without dyserythropoiesis led to the diagnosis of primary shunt hyperbilirubinaemia. The similarity between congenital dyserythropoietic anaemia and this entity suggests that patients with these lesions can be considered within a single spectrum of disorders, characterized as congenital ineffective erythropoiesis.- - - - - - - - - - ranking = 0.14285714285714keywords = jaundice (Clic here for more details about this article) |
5/10. crigler-najjar syndrome: treatment at home with phototherapy.An infant became jaundiced in the neonatal period. The serum bilirubin failed to fall with phototherapy. A diagnosis of Crigler Najjar type 1 syndrome was made by exclusion and confirmed by liver biopsy. The infant has been successfully treated at home with phototherapy. liver transplantation remains a therapeutic option.- - - - - - - - - - ranking = 0.14285714285714keywords = jaundice (Clic here for more details about this article) |
6/10. Acute appendicitis in patients with Gilbert's syndrome.Gilbert's syndrome is a benign disorder characterized by intermittent hyperbilirubinemia. jaundice is provoked by anorexia and fever, conditions associated with acute abdominal illnesses. Three cases of Gilbert's syndrome and acute appendicitis are presented. The presence of jaundice resulted in errors of diagnosis with serious complications.- - - - - - - - - - ranking = 0.14285714285714keywords = jaundice (Clic here for more details about this article) |
7/10. Gilbert's syndrome as a cause of postoperative jaundice.A case of postoperative jaundice due to Gilbert's syndrome in a previously healthy 19-year-old female is presented. signs and symptoms of jaundice developed on the second postoperative day and resolved spontaneously after 5 days. The diagnosis and characteristics of Gilbert's syndrome and other related abnormalities and factors relevant to anaesthesia which affect bilirubin metabolism are discussed.- - - - - - - - - - ranking = 0.85714285714286keywords = jaundice (Clic here for more details about this article) |
8/10. hyperbilirubinemia of fasting. A case of postoperative jaundice.A patient had substantial jaundice following an uncomplicated appendectomy. After recovery, the hyperbilirubinemia recurred following a 24-hour fast. An analysis to determine the effect of fasting on the bilirubin level in hospitalized patients showed an apparent elevation in the serum unconjugated bilirubin level in the fasting state.- - - - - - - - - - ranking = 0.71428571428571keywords = jaundice (Clic here for more details about this article) |
9/10. Extreme hyperbilirubinemia in a patient with hereditary spherocytosis, Gilbert's syndrome, and obstructive jaundice.hyperbilirubinemia may be of several etiologies in the individual patient. An 18-year-old man presented with extreme hyperbilirubinemia (direct bilirubin 23.0 mg/dl, total bilirubin 60.0 mg/dl), hepatosplenomegaly, and anemia. Hematologic studies prelaparotomy documented the presence of hereditary spherocytosis. Intraoperative liver biopsy revealed moderately reduced levels of glucuronyl transferase activity (Gilbert's syndrome). common bile duct obstruction secondary to choledocholithiasis was found, and a cholecystectomy and splenectomy were performed. This case stresses the potential confusion among several diseases which may present with hyperbilirubinemia.- - - - - - - - - - ranking = 0.57142857142857keywords = jaundice (Clic here for more details about this article) |
10/10. Idiopathic intrahepatic cholestasis of pregnancy. Report of an unusual case and review of the recent literature.An atypical case of idiopathic cholestasis of pregnancy occurring in the 16th week of gestation in a 24-year old Pakistani female is presented. The case is unusual both in the duration of the jaundice as well as in the high levels of bilirubin found in the presence of normal renal function. A review of the recent literature emphasizes that this disorder is not entirely benign for the mother and the fetus. It also discusses some of the alterations in estrogen and lipid metabolism that are seen, as well as the possible mechanisms responsible for the increased incidence of gallstone formation found in these patients.- - - - - - - - - - ranking = 0.14285714285714keywords = jaundice (Clic here for more details about this article) |
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