1/10. Severe jaundice in a gunshot casualty due to the coexistence of Dubin-Johnson and glucose-6-phosphate dehydrogenase deficiency.We report an unusual case of a 21-year-old man who was shot in his abdomen in the course of a robbery. He was previously diagnosed as glucose-6-phosphate dehydrogenase deficient. Mild icterus was noticed on admission to the emergency room. Exploratory laparotomy revealed a perforated ileal loop that was resected, and because the liver color was greenish black, a liver biopsy was performed during the operation. After operation the patient went through a severe icteric state that resolved spontaneously within a few days. Urinary coproporphyrin levels, along with compatible liver biopsy, confirmed the diagnosis of Dubin-Johnson disease. Severe hyperbilirubinemia after an abdominal injury is uncommon and is usually due to either a biliary duct injury or iatrogenic injury. This case presents an unusual cause of severe postoperative jaundice due to the rare coexistence of two inherited disorders.- - - - - - - - - - ranking = 1keywords = jaundice (Clic here for more details about this article) |
2/10. association of Dubin-Johnson syndrome and portal vein thrombosis.Dubin-Johnson syndrome is neither complicated by liver cell necrosis nor associated with portal hypertension. We report a 22-year-old man who had recurrent episodes of jaundice (conjugated hyperbilirubinemia) because of Dubin-Johnson syndrome and portal hypertension secondary to portal vein thrombosis. The relationship between Dubin-Johnson syndrome and portal vein thrombosis in this case is most likely a chance occurrence.- - - - - - - - - - ranking = 0.2keywords = jaundice (Clic here for more details about this article) |
3/10. 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 = 0.2keywords = jaundice (Clic here for more details about this article) |
4/10. Improvement of serum bilirubin levels after venesection in a patient with Dubin-Johnson syndrome and HCV-positive chronic liver disease.Direct-type hyperbilirubinemia in Dubin-Johnson syndrome is due to the genetic dysfunction of multidrug resistance protein 2. However, serum bilirubin levels may fluctuate as a result of acquired conditions. Iron-reduction therapy by venesection, an alternative to interferon, was performed in a 55-year-old male patient with Dubin-Johnson syndrome complicated by hepatitis c virus-positive chronic liver disease and hepatic iron overload. His pretreatment serum total bilirubin was 10.2 mg/dl, with a dominant direct fraction. The treatment induced a significant reduction in serum total bilirubin, although it remained as high as 7.9 mg/dl. A negative correlation between serum total bilirubin and cumulative bled volume suggested that venesection could suppress bilirubin production from aged erythrocytes. The hepatic iron overload was distributed in hepatocyte lysosomes with Dubin-Johnson granules; thus, it seems that iron removal from the lysosomal granules may also help to reduce serum bilirubin. In conclusion, deep jaundice in a patient with Dubin-Johnson syndrome complicated by hepatitis c virus-positive chronic liver disease and iron overload was partially improved by iron-reduction therapy.- - - - - - - - - - ranking = 0.2keywords = jaundice (Clic here for more details about this article) |
5/10. 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 = 1keywords = jaundice (Clic here for more details about this article) |
6/10. Neonatal Dubin-Johnson syndrome: long-term follow-up and MRP2 mutations study.Neonatal Dubin-Johnson syndrome (DJS) is rarely diagnosed and mutational analysis of multidrug-resistance-associated protein 2 (MRP2) in such patients had not been reported. We aimed to investigate the possible correlations between genotype and phenotype of patients with DJS. Four cases of DJS, two diagnosed during the neonatal period and two diagnosed at adolescence, were followed for 5-20 y. Mutational analysis in the MRP2/ABCC2 gene was performed in all four cases. Biphasic pattern of jaundice attack was observed in one patient who was followed for 20 y, with jaundice subsiding before 1 y of age and recurring at adolescence. Six novel mutations in four patients were found, including deletions (2748del136, 3615del229, and Del3399-3400), and missense mutations (L441M and E1352Q) and nonsense mutation (Y1275X). The immunohistochemical staining in liver tissues from two patients with neonatal onset showed negative staining for MRP2. Reviewing previously reported cases, all patients diagnosed as DJS before 10 y of age have mutations involving one of the two ATP-binding cassettes (ABC) of the MRP2. This study suggests that long-term follow-up is indicated for neonatal DJS because of possible recurrence and/or second attacks of jaundice in later life, and that disruption of functionally important ABC domains in MRP2 may be related to the earlier onset of the disease.- - - - - - - - - - ranking = 0.6keywords = jaundice (Clic here for more details about this article) |
7/10. Dubin-Johnson syndrome--a clinicopathologic study of twenty cases.Dubin-Johnson syndrome (DJS) is a rare benign chronic disorder of bilirubin metabolism, characterized by conjugated hyperbilirubinemia, darkly pigmented liver and presence of abnormal pigment in hepatic parenchymal cells. This is a retrospective study of twenty cases of DJS highlighting their major clinical and pathological findings. Liver biopsies were available in all the cases, obtained during a fourteen-year period (January 1991 to March 2005). The patients' age ranged from 7-63 years (median 21 years). These twenty cases comprised 13 males and 7 females. Major clinical manifestations were recurrent or persistent jaundice, abdominal pain and fever. Duration of illness ranged from 9 months to 58 years (median 10 years). All of them had conjugated hyberbilirubinemia and total serum bilirubin levels ranged between 1.4-13 mg/dl (mean 4.4 mg/dl). Liver biopsies revealed presence of coarse granular brown pigment in the cytoplasm of hepatocytes more concentrated in the pericanalicular region and more prominent in centrilobular hepatocytes. Associated findings were presence of hepatitis b virus related chronic hepatitis (1), history of tubercular lymphadenitis (1), chronic cholecystitis in (2), coronary heart disease (1) and exacerbation during pregnancy (1).- - - - - - - - - - ranking = 0.2keywords = jaundice (Clic here for more details about this article) |
8/10. A case of idiopathic fibrosing pancreatitis.We experienced a case of chronic fibrosing pancreatitis in an 18/12-year-old girl, which was idiopathic because there were no familial back ground, no cystic fibrosis of pancrease, no ductal anomalies and obstruction. The patient presented intermittent colicky abdominal pain and progressive obstructive jaundice, but T-tube drainage and removal of the lymph nodes around the common bile duct relieved her symptoms and disease process. This seems to be the first case reported in a Korean child. Idiopathic fibrosing pancreatitis should be considered in the differential diagnosis of abdominal pain with obstructive jaundice in children.- - - - - - - - - - ranking = 0.40058841493578keywords = jaundice, idiopathic (Clic here for more details about this article) |
9/10. Familial nonhemolytic jaundice with free and conjugated hyperbilirubinemia, elevated serum bile acids, and liver pigmentation.We have described an 11-year-old patient with nonhemolytic hyperbilirubinemia, elevated serum bile acids, and liver pigmentation. The Bromsulphalein clearance was not typical of that seen in the Dubin-Johnson syndrome, but there was a secondary rise at 120 min. The abnormalities involving several organic anions and liver histology are compared to those seen in other types of familial nonhemolytic jaundice.- - - - - - - - - - ranking = 1keywords = jaundice (Clic here for more details about this article) |
10/10. Dublin-Johnson syndrome with some unusual features in a Chinese family.Three cases of chronic nonhaemolytic jaundice with conjugated bilirubin in the serum are described in a Chinese family. Bromsulphthalein excretion tests gave results typical of the Dubin-Johnson syndrome. Liver histology in the proband showed cytoplasmic pigment of the lipofuscinmelanin variety, and intravenous cholecystography failed to show visualisation of the gallbladder. Unusual findings included onset during the neonatal period in the proband and the presence of some iron pigment in the hepatic cells with a little canalicular cholestasis. It is suggested that the infant may have had a concomitant nonspecific hepatitis. These cases are regarded as belonging to a disease group in which the Dubin-Johnson syndrome is at one end of a spectrum. The mode of inheritance is discussed.- - - - - - - - - - ranking = 0.2keywords = jaundice (Clic here for more details about this article) |
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