Filter by keywords:



Retrieving documents. Please wait...

1/43. 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. ( info)

2/43. Incipient perisinusoidal fibrosis in an adult patient with Dubin-Johnson syndrome.

    The present paper describes a rare case of incipient perisinusoidal fibrosis of perihepatocellular type occurring in the Dubin-Johnson syndrome in a 63-year-old patient operated on six months previously for chronic calculous cholecystitis. The source of collagen formation was the activated sinusoidal Ito cells. Excluding chronic virus hepatitis and reactive cholecystic hepatitis, we believe that the fibrosis in this patient can be associated with the relatively old age of the patient and the duration of the disease. ( info)

3/43. Pigmented liver cell adenoma in two male patients.

    We report two cases of hepatocyte neoplasia with extensive deposition of Dubin-Johnson-like pigment in men without Dubin-Johnson syndrome. This pigment has previously been described in hepatocellular carcinoma but not in liver cell adenoma. The tumors of both patients showed some atypical cytologic features, but no frank histologic evidence of malignancy. Long-term follow up for several years showed no evidence of recurrence after limited surgical excision. We conclude that tumors with this structure may be cured by limited surgical excision and should be considered as pigmented liver cell adenomas. ( info)

4/43. Congenital extrahepatic portocaval shunt associated with hepatic hyperplastic nodules in a patient with Dubin-Johnson syndrome.

    We report a rare case of congenital extrahepatic portocaval shunt diagnosed during evaluation of hyperplastic nodules in the liver. Diagnostic imagings showed hypoplasia of the intrahepatic portal venous system and splanchnic portal venous return to the inferior vena cava through aberrant vessels. Altered hepatic blood flow dynamics due to this shunt may have been implicated in the etiology of the hepatic hyperplastic nodules. ( info)

5/43. Multiple black hepatocellular adenomas in a male patient.

    A 65-year-old man presented with multiple liver tumours. Imaging techniques could not differentiate between adenomas and hepatocellular carcinomas. He had no relevant past medical history. liver function tests were normal except for a 1.5-fold rise in GGT. AFP was normal. Viral markers were negative. During laparoscopy, numerous black tumours of different sizes were seen. These tumours were adenomas without malignant transformation. Tumoral hepatocytes contained a brown pigment in the canalicular area without evidence of cholestasis. This pigment was Fontana positive and looked like Dubin-Johnson pigment by electron microscopy. The expression of the canalicular multispecific organic anion transporter (cMOAT) was decreased in the tumours but normal in the non-tumoral liver ruling out the diagnosis of Dubin-Johnson syndrome. There was mild iron deposition possibly related to an homozygous H63D mutation in the HFE gene. Three years after their discovery, the size of the tumours remained stable. It is concluded that this male patient with multiple adenomas and mild iron overload is at risk of developing an hepatocellular carcinoma and that the black colour of adenomas is probably due to a partial defect in excretion of organic anions. ( info)

6/43. Genetic disorders and molecular mechanisms in cholestatic liver disease--a clinical approach.

    cholestasis may result from genetic or acquired defects in bile secretion. Cloning of hepatobiliary transporter genes has advanced our understanding of the molecular basis of bile formation and cholestasis. Hereditary mutations of transporter genes, exposure to cholestatic injury (eg, drugs, hormones, cytokines), or the combination of both can result in reduced expression and function of hepatobiliary transport systems. These molecular changes impair hepatic uptake and excretion of bile salts and other organic anions (eg, bilirubin). Other molecular changes contibuting to cholestasis include alterations of membrane fluidity, cytoskeleton, vesicle movement, and cell contacts. Transporter mutations can be diagnosed at the molecular genetic level. Gene therapy and hepatocyte transplantation could be used in the future to correct hereditary transport defects. Drugs used to treat cholestatic liver diseases (eg, ursodeoxycholic acid) stimulate and partially restore defective transporter expression and function. New information on the molecular mechanisms of cholestasis should lead to the development of novel drugs for cholestatic liver diseases. ( info)

7/43. Treatment of severe cholestasis in neonatal Dubin-Johnson syndrome with ursodeoxycholic acid.

    We report a case of Dubin-Johnson syndrome in a neonate presenting with severe direct hyperbilirubinemia, which failed to respond to phenobarbital treatment. ursodeoxycholic acid added to therapy was well tolerated, and resulted in declining bilirubin concentration. We suggest ursodeoxycholic acid in treatment for Dubin-Johnson syndrome with severe direct hyperbilirubinemia presenting in the neonatal age. ( info)

8/43. A new mutation of the ATP-binding cassette, sub-family C, member 2 (ABCC2) gene in a Japanese patient with Dubin-Johnson syndrome.

    Dubin-Johnson syndrome (DJS) is an inherited disorder characterized by conjugated hyperbilirubinemia and is caused by mutations of the canalicular multispecific organic anion transporter (cMOAT)/ multidrug resistance protein 2 (MRP2)/ ATP-binding cassette, sub-family C, member 2 (ABCC2) gene. The ABCC2 protein is located in the apical membrane of hepatocytes, and known mutations of this gene cause impaired maturation and trafficking of the mutated protein from the endoplasmic reticulum (ER) to the Golgi complex. We have characterized the ABCC2 gene in a Japanese DJS patient by polymerase chain reaction and dna sequencing, resulting in the identification of two mutations. One mutation, 1815 2 (T>A) in the splice donor site of intron 13, has already been reported. However, we have identified a novel nonsense mutation consisting of a (C>T) transition at nucleotide 3928 in exon 28. ( info)

9/43. 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. ( info)

10/43. Identification of a novel 2026G-->C mutation of the MRP2 gene in a Japanese patient with Dubin-Johnson syndrome.

    Dubin-Johnson syndrome is a recessive inherited disorder with conjugated hyperbilirubinemia caused by a dysfunction of multidrug resistance protein 2 (MRP2) on the canalicular membrane of hepatocytes. A mutational analysis of the MRP2 gene was carried out in three Japanese patients and their family members. In two patients, the homozygous mutations c.1901del67 and c,2272del168 were found. In the third patient, a -24C-->T polymorphism and the two mutations c.1901del67 and 2026G-->C were detected. The 2026G-->C mutation was a novel mutation in exon 16 affecting the conversion of Gly(676) to Arg(676) (G676R) in the MRP2 protein, and was not detected in fifty healthy volunteers. The G676R mutation was located in the Walker A motif of the first nucleotide binding domain in the MRP2 protein, and it was suggested that the mutation induced the dysfunction of the MRP2 protein. It was concluded that the compound heterozygosity of the two mutations of the MRP2 gene in the third patient contributed to the induction of hyperbilirubinemia in this case. ( info)
| Next ->


Leave a message about 'jaundice, chronic idiopathic'


We do not evaluate or guarantee the accuracy of any content in this site. Click here for the full disclaimer.