No abstract available.
Jaundice, Chronic Idiopathic*

Dubin-Johnson Syndrome is a form of benign, familial idiopathic jaundice presenting with chronic intermittentconjugated hyperbilirubinnmia and a melamin-like pigment has been found in the parenchymal liver cells. This disorder is rarely diagnosed in the neonatal period. We report a case of Dubin-Johnson syndrome presenting with neonatal cholestasis.
Cholestasis ; Jaundice ; Jaundice, Chronic Idiopathic* ; Liver

Dubin-Johnson Syndrome is a form of benign, familial idiopathic jaundice presenting with chronic intermittentconjugated hyperbilirubinnmia and a melamin-like pigment has been found in the parenchymal liver cells. This disorder is rarely diagnosed in the neonatal period. We report a case of Dubin-Johnson syndrome presenting with neonatal cholestasis.
Cholestasis ; Jaundice ; Jaundice, Chronic Idiopathic* ; Liver

As a adjuvant, 99m Tc-IDA complex cholescintigraphy has been used to differentiate the causes of jaundice,hepatocellular jaundice from the obstructive jaundice. So we conducted the retrospective study from the 41 casesof cholescintigraphy from the Mar, 83 to Sept. 84 at the Dept. of radiology in the Sonnchyunhyang university todetermine the etiology and differential points in the diagnosing the Jaundice. The following results wereobtainend; 1. As a 1st-ordered parameter, the leading edge hepatic parenchymal transit time was very significant in differentiating the causes of jaundice, among the hepatocellular jaundice, obstructive jaundice due to tumor,and obstructive jaundice due to cholelithiasis. (P<0.01 by X2-test) 2. As a 2nd-ordered parameter, hepaticclearance was very significant in differentiating the hepatocellular jaundice from the jaundice due to partialbiliary obstruction. (P>0.01 by t-test) 3. The difference in hepatic clearance between the biliary obstruction dueto tumor and that of the cholelithiasis, was not significant. (P>0.05 by X2-test) 4. The difference in bile ductdilatation among the hepatocellular jaundice obstructive jaundice due to tumor, and obstructive jaundice due tocholelithiasis, was singnificant in differentiating the causes of jaundice. (P<0.05 by X2-test) 5. Intrahepaticstone showed scintigraphic pooling with partial stasis. 6. Cholescintigraphy was useful to differentiated the Rotor's syndrome from the Dubin-Johnson syndrome, supplying the additional criteria.
Bile ; Cholelithiasis ; Jaundice ; Jaundice, Chronic Idiopathic ; Jaundice, Obstructive ; Retrospective Studies

Clinically, Dubin-Johnson syndrome is characterized by mild icterus without specific symptoms or signs. The icterus is so mild that it is usually noted only during another illness, pregnancy, or the use of oral contraceptives. There is no pruritus in ubin-Johnson syndrome. The physical examination is usually normal, except for the icterus, although hepatosplenomegaly is seen occasionally. Histologically, the liver is normal, except for the presence of dense pigment making it appear black grossly. Pigmentation of tissues other than the liver in patients with Dubin-Johnson syndrome has been reported only in a few cases. We experienced a case of Dubin-Johnson syndrome with extrahepatic pigmentation in the skin with a neurofibroma in a 66-year-old man.
Aged ; Contraceptives, Oral ; Humans ; Jaundice ; Jaundice, Chronic Idiopathic ; Liver ; Neurofibroma ; Neurofibromatoses ; Physical Examination ; Pigmentation ; Pregnancy ; Pruritus ; Skin

Dubin-Johnson syndrome (DJS) is an autosomal recessive disorder resulting from biallelic mutations of ABCC2 gene, with long-term or intermittent conjugated hyperbilirubinemia being the main clinical manifestation. This paper aims to report the clinical features and ABCC2 genotypes of an infant with DJS. A 9.5-month-old male infant was referred to the hospital due to abnormal liver function discovered over 9 months. The major clinical presentation was prolonged jaundice since neonatal period. A series of biochemistry analysis revealed markedly elevated total bilirubin, conjugated bilirubin and total bile acids. The patient had been managed in different hospitals, but the therapeutic effects were unsatisfactory due to undetermined etiology. Physical examination revealed jaundiced skin and sclera, and a palpable liver 3 cm below the right subcostal margin with medium texture. The spleen was not enlarged. Genetic analysis revealed a splice-site variant c.3988-2A>T and a nonsense variant c.3825C>G (p.Y1275X) in the ABCC2 gene of the infant, which were inherited from his mother and father respectively. The former had not been previously reported. Then ursodeoxycholic acid and phenobarbital were given orally. Half a month later, as a result, his jaundice disappeared and the biochemistry indices improved. However, the long-term outcome needs to be observed. Literature review revealed that neonates/infants with DJS presented with cholestatic jaundice soon after birth as the major clinical feature, and the ABCC2 variants exhibited marked heterogeneity.
Bile Acids and Salts ; Bilirubin ; Humans ; Infant ; Jaundice ; Jaundice, Chronic Idiopathic ; genetics ; Male ; Multidrug Resistance-Associated Proteins ; genetics ; Ursodeoxycholic Acid

Rotor's syndrome is a hereditary disorder characterized by predominantly conjugated hyperbilirubinemia with normal hepatic histology. It resembles Dubin-Johnson syndrome but the main differences are no dark brown pigmentation in the hepatic cells and visualization of the gallbladder in oral cholangiography. We experienced a 14 year-old male patient who had icteric sclerae and predominantly conjugated hyperbilirubinemia when he was hospitalized for varicocelectomy. His liver biopsy specimen showed no dark brown pigmentation and any other pathologic abnormalities in the hepatic cells. Hepatobiliary scan shows no evidence of obstructive lesions. His urinary excretion of total coproporphyrin was markedly increased.
Adolescent ; Biopsy ; Cholangiography ; Gallbladder ; Hepatocytes ; Humans ; Hyperbilirubinemia ; Jaundice, Chronic Idiopathic ; Liver ; Male ; Pigmentation ; Sclera

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.
Abdominal Pain/complications ; Female ; Fibrosis ; Humans ; Infant ; Jaundice, Chronic Idiopathic/complications ; Pancreatitis/complications/*pathology

Adolescent ; Biopsy ; Female ; Hepatocytes ; diagnostic imaging ; pathology ; Humans ; Jaundice, Chronic Idiopathic ; pathology ; Sibling Relations ; Ultrasonography

OBJECTIVE: To explore the clinical characteristics and molecular basis for a Chinese boy affected with jaundiced skin and liver disease. METHODS: The patient was subjected to clinical examination and laboratory tests. Genomic DNA of the patient and his parents was extracted and analyzed by using next generation sequencing (NGS). Suspected mutations were analyzed with bioinformatic software and verified by Sanger sequencing. RESULTS: The patient had jaundice in his eyes and skin. Serum bilirubin was elevated along with hepatomegaly. Next generation sequencing showed that the patient has carried c.18C>A(p.C6X) and c.2556delA mutations in the MRP2 gene, which were respectively inherited from his father and mother. CONCLUSION The missense mutation c.18C>A and frameshift mutation c.2556delA probably account for the disease. NGS has provided a powerful tool for the diagnosis of rare genetic diseases including Dubin-Johnson syndrome.
Asian Continental Ancestry Group ; DNA ; High-Throughput Nucleotide Sequencing ; Humans ; Jaundice, Chronic Idiopathic ; Male ; Mutation