• Journal of Veterinary Clinics
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• v.7 no.1
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• pp.381-390
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• 1990

In order to study the effects of administration of carbon tetrachloride(CCI$_4$) and 1-naphthylisothiocyanate(ANIT) on the liver of Korean black goats, some liver function tests and liver biopsy were done on 4 Korean black goats dosed with CCI$_4$(0.4m1/kg of body weight) in-traruminally and 4 Korean black goats dosed with ANIT(400mg/kg of body weight) by stomach tube. BSP Tl/2 and serum total bilirubin concentration in goats dosed with CCI$_4$ were increased gradually, reached to maximum value on 2nd and 1st day, respectively, and then began to decrease in normal range, gradually. In goats dosed with ANIT, BSP Tl/2 and serum total bilirubin concentration were increased rapidly, reached to maximum value on 0.5 and 1st day, respectively, and then returned to normal ragne, rapidly. Serum SDH, AST and GGT activities in goats dosed with CCI$_4$ were increased rapidly and reached to maximum value on 3rd, 1st and 2nd day, respectively. Thereafter, the serum enzyme activities began to decrease in normal range gradually. In goats dosed with ANIT, however, serum SDH, AST and GGT activities were not changed. The histopathologic changes in goats dosed with CCI$_4$ were lipidosis and centrilobular nee-rosis of the hepatic parenchyma. In goats dosed with ANIT, hyperplasia of bile duct epithelium was noticeable, but pathologic changes in liver parenchyma were not noticed. Conclusively, in Korean black goats dosed with CCI$_4$, main finding was necrosis of hepatic parenchyma. In Korean black goats dosed with ANIT, main finding was cholestasis.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.6 no.1
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• pp.96-107
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• 2006

Citrin deficiency resulting from mutations of SLC25A13is associated with two major clinical phenotypes; neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) and adult-onset type 2 citrullinemia (CTLN2). In Korea, 7 cases of citrin deficiency have been diagnosed based on biochemical and molecular findings. Four NICCD cases were identified by newborn screening using MS/MS or presenting symptoms like cholestatic jaundice. They are all males, presenting with conjugated hyperbilirubinemia, elevated liver enzymes, hypoalbuminemia, mild hyperammonemia, elevated citrullin, methionine and threonine. All of them have been spontaneously recovered from hepatic manifestation by the age of 6-8 months. Mutation analysis has been performed using their genomic & cDNAs obtained from skin fibroblasts. They turned out to be compound heterozygotes carrying each of 851del4, IVS11+1G>A, and IVS13+1G>A. Three CTLN2 patients were identified. Two adult male patients presented with a sudden loss of consciousness, seizure, vomiting, hyperammonemia and citrullinemia in their twenties. They carried an IVS13+1G>A, 851del4, and IVS11+1G>A mutant alleles. The other CTLN2 patient was 52 year old female patient, manifesting lethargy, altered consciousness, irritability and hyperammonemia. Similar clinical symptoms had recurred at the delivery of first and second babies in her past medical history. She was managed by hemodialysis and survived with neurological sequellae. Also, we screened the presence of 9 common mutations in 500 Korean newborns using dried blood spot of filter papers. Only a allele carried 854del4 mutation. In conclusion, the entire picture of citrin deficiency in Korea including incidence, genotype, clinical features and natural courses, is still vague at the present time.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.12 no.1
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• pp.35-41
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• 2012

Since the causative gene, SLC25A13 which encodes citrin, was discovered in 1999, over 500 cases with citrin deficiency have been identified. Two phenotypes can occur by citrin deficiency, neonatal intrahepatic cholestasis by citrin deficiency (NICCD) and adult-onset type II citrullinemia (CTLN2). Some patients with NICCD develop CTLN2 in their later lives. Although cholestatic jaundice is spontaneously resolved within the first year of life in most cases with NICCD, a few cases experience progressive hepatic failure. In this report, two neonates with severe type of NICCD were described. Both cases exhibited neonatal cholestatic jaundice, hyperammonemia and severe coagulopathy. Of note, plasma citrulline and blood galactose levels were extremely high. Serum ${\alpha}$-fetoprotein, plasma methionine, arginine, and threonine-to-serine ratio were elevated as well. SLC25A13 mutations were found in all the four alleles of both patients. With the commencement of lactose-free formula, coagulopathy and hyperammonemia were resolved, and galactose level was normalized. Currently, no factor has been identified to predict the prognosis of NICCD. More experiences are needed to build up the adequate therapeutic strategies for severe type of NICCD. Our experience, however, indicates that the degree of citrullinemia and galactosemia might reflect the severity.

• The Korean Journal of Nuclear Medicine
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• v.17 no.1
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• pp.71-78
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• 1983

Twenty-nine patients with neonatal jaundice were evaluated with $^{99m}Tc-HIDA$ cholescin-tigraphy to elucidate its clinical applicability. Scintigraphic results were interpreted by the degree of early hepatic uptake and the presence or absence of radioactivity in the G-I tract. The results are as follows; I) In 18 patents with neonatal hepatitis; 8 of 11 patients with decreased hepatic uptake and all 5 patients with good hepatic uptake showed G-I radioactivity. But, the 2 remainders with poor hepatic extraction were not available for evaluation of neonatal jaundice due to patient's poor hepatic function. 2) In 9 patients, confirmed as biliary obstruction; all showed no G-I radioactivity but 3 of the 9 showed poor hepatic extraction on scan and they were not available for evaluation. 3) All the 2 patients with postoperative cholangitis showed G-I radioactivity on $^{99m}Tc-HIDA$ scan. 4) Relationship between histopathologic findings and $^{99m}Tc-HIDA$ scan; Among 5 patients with biliary cirrhosis 3 showed poor hepatic extraction, the remainders showed decreased and good hepatic uptake respectively. But, the 2 portal fibrosis without cirrhosis and 4 cholestasis showed decreased (4) or good hepatic uptake (2).

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.4 no.1
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• pp.120-124
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• 2001

Sclerosing cholangitis is a chronic cholestatic disease characterized by inflammation and obliterative fibrosis of the bile ducts, leading to biliary cirrhosis and ultimately to liver failure. In children, sclerosing cholangitis is known to be associated with Langerhans cell histiocytosis, as well as with congenital immunodeficiencies and cystic fibrosis. Secondary sclerosing cholangitis is suspected in Langerhans cell histiocytosis with chronic cholestasis, liver dysfunction and portal hypertension. Unlike primary sclerosing cholangitis, the cholangitis associated Langerhans cell histiocytosis is destructive in nature and progresses more rapidly to biliary cirrhosis, therefore uniformly the prognosis is poor. In this setting, liver transplantation should be considered early in children with sclerosing cholangitis complicating Langerhans cell histiocytosis before end-stage liver failure and variceal bleeding. We experienced a case of secondary sclerosing cholangitis in Langerhans cell histiocytosis in a 2-year-old boy. We report this case with brief review of the related literatures.

• Tuberculosis and Respiratory Diseases
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• v.59 no.5
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• pp.546-550
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• 2005

Sarcoidosis is a rare systemic disorder with unknown cause that is characterized pathologically by non-caseating granuloma. The lung and mediastinal lymph nodes are almost always involved, and most patients experience acute or insidious respiratory symptom. Because sarcoidosis is an interstitial lung disorder involving the alveoli and bronchioles, the most common radiological finding is a reticularnodular lesion with lymphatic distribution. However, cavitation is quite rare. Sarcoidosis is also a major cause of hepatic granuloma in Western countries, accounting for 12% to 30% of cases. In most patients, the course of hepatic sarcoidosis is benign. However, chronic intrahepatic cholestasis or portal hypertension may develop in some patients. We report a case of sarcoidosis with cavitation and hepatic involvement.

• Archives of Pharmacal Research
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• v.26 no.12
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• pp.1067-1073
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• 2003

Ursodeoxycholic acid (UDCA) is a non-toxic, hydrophilic bile acid in widespread clinical use mainly for acute and chronic liver disease. Recently, treatment with UDCA in hepatic graft-versus-host disease has been given in immunosuppressive therapy for improvement of the biochemical markers of cholestasis. Moreover, it has been reported that UDCA possesses immunomodulatory effects by the suppression of cytokine production. In the present study, we hypothesized that UDCA may inhibit the production of the pro-inflammatory cytokine, IL-1$\beta$, and nitric oxide (NO) in microglia. In the study, we found that 100 $\mu$ g/mL UDCA effectively inhibited these two pro-inflammatory factors at 24 hand 48 h, compared to the $A\beta$42-pretreated groups. These results were compared with the LPS+UDCA group to confirm the UDCA effect. As microglia can be activated by several stimulants, such as $A\beta$42, in Alzheimers brain and can release those inflammatory factors, the ability to inhibit or at least decrease the production of IL-1$\beta$ and NO in Alzheimers disease (AD) is essential. Using RT-PCR, ELISA and the Griess Reagent System, we therefore found that UDCA in $A\beta$42 pre-treated cultures played a significant role in suppressing the expression or the production of IL-1$\beta$ and NO. Similarly, lipopolysaccharide (LPS) did not activate microglia in the presence of UDCA. Moreover, we found that UDCA exhibits a prolonged effect on microglial cells (up to 48 h), which suggests that UDCA may play an important role in chronic cell damage due to this long effect. These results further imply that UDCA could be an important cue in suppressing the microglial activation stimulated by massive AD peptides in the AD progressing brain.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.2 no.2
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• pp.262-266
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• 1999

Obstruction of the extrahepatic bile ducts is the most common cause of conjugated hyperbilirubinemia in early infancy. More than 90% of such obstructive lesions are accounted for by extrahepatic biliary atresia. A rare lesion is obstruction of the common duct by impacted, thickened secretions and bile. Bile plug syndrome is defined as extrahepatic obstruction of the bile ducts by bile sludge in term infants without anatomic abnormalities, congenital chemical defects of bile, or hepatocellular lesions. Obstruction of extrahepatic ducts by plugs of biliary material apperas to be due to the inspissation and precipitation of bile and mucus within the lumen of the ducts. Cholestasis and precipitation of bile develop in association with abnormal composition of bile in cystic fibrosis, hepatocellular damage, prolonged erythroblastic jaundice, altered biliary dynamics with total parenteral nutrition, gut dysfunction, diuretic therapy, exchange transfusions and perinatal hemolysis. In those cases, the term inspissated bile syndrome is used. The clinical and laboratory findings in bile plug syndrome are identical to those observed in biliary atresia and choledochal cyst. The diagnosis can be suspected based on the findings of clinical and laboratory examinations together with hepatobiliary imaging, ultrasonography, radionuclide scan and liver biopsy. We experienced a case of spontaneous resolution of bile plug syndrome in a 4-year-old girl. We report this case with brief review related literatures.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.19 no.1
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• pp.44-53
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• 2016

Purpose: Parenteral nutrition (PN) not only provides nutritional support but also plays a crucial role in the treatment of children with intestinal failure. The aim of this study was to evaluate the clinical significance and clinical outcomes of long-term PN. Methods: Retrospective cohort study was conducted using the medical records of patients treated at Seoul National University Children's Hospital. This study included 19 patients who received PN for over six months. Most patients received home PN. Results: The indications for PN included short bowel syndrome, chronic intestinal pseudo-obstruction, and intractable diarrhea of infancy. The median age of PN initiation was 1.3 years, and the median treatment duration was 2.9 years. Two patients were weaned from PN; 14 continued to receive PN with enteral feedings; and 3 patients died. The overall survival rates at 2 and 5 years were 93.3% and 84.0%, respectively. The incidence of catheter-related bloodstream infections was 2.7/1,000 catheter-days and was associated with younger age at PN initiation and lower initial height Z-score. Six patients developed catheter-related central vein thrombosis, with an incidence of 0.25/1,000 catheter-days. Eleven patients experienced PN-associated liver disease (PNALD), and one patient underwent multi-visceral transplant. The patients with PNALD exhibited lower final heights and body weight Z-scores. All patients experienced micronutrient deficiencies transiently while receiving PN. Conclusion: PN is an important and safe treatment for pediatric intestinal failure. PNALD was linked to final anthropometric poor outcomes. Micronutrient deficiencies were common. Anthropometric measurements and micronutrient levels must be monitored for successful PN completion.

• Perinatology
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• v.29 no.4
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• pp.189-194
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• 2018

Congenital neuroblastoma is a rare disease. Placental metastasis is extremely rare and poor prognosis has been reported in neonates. Mirror syndrome could occur in mother with placental metastasis with possibilities of hypertension and edema. We report a case of detection of left suprarenal mass in fetus at $31^{+5}weeks^{\prime}$ gestation. Mother presented with palpitation, edema, headache, and hypertension. Maternal 24 hours urine vanillylmandelic acid (VMA) and normetanephrine (NME) level at 34 weeks' gestation were elevated. Consequently, emergent cesarean section was done. Based on abdominal ultrasonography and whole body magnetic resonance imaging, left adrenal tumor with liver metastasis was suspected. Neuroblastoma was confirmed by liver and placenta biopsy. Chemotherapy was started with Pediatric Oncology Group 9243 at day 7 and changed into Children's Oncology Group 3961 due to cholestasis and poor response during 2nd cycle. Plasma exchange was done for aggravated direct hyperbilirubinemia. The baby expired at 73 days due to multi-organ failure. Maternal symptoms were completely resolved in 2 weeks after delivery along with normalization of the elevated level of VMA and NME. We report a first case of mirror syndrome in Korean mother and fetus resulting from metastatic congenital neuroblastoma to placenta.