• Pediatric Gastroenterology, Hepatology & Nutrition
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• 제7권2호
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• pp.243-247
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• 2004

저자 등은 정계정맥류 수술을 위해 본원 비뇨기과에 입원한 14세 남아가 공막의 황달과 직접형 빌리루빈의 증가 소견을 보였고 간생검 등으로부터 로터 증후군으로 증명되어 참고문헌과 아울러 보고하는 바이다.

• Clinical and Experimental Pediatrics
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• 제48권6호
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• pp.649-654
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• 2005

목 적 : 본 연구는 고빌리루빈혈증이 유도된 신생자돈에서 비 침습적인 NIRS을 통한 뇌의 혈역학적 변화에 대해 알아보고자 하였다. 방 법 : 17 마리의 신생자돈을 대상으로 정상 대조군(CG, n=6), 고빌리루빈혈증군(BG, n=7마리), 7-NI를 투여한 고빌리루빈 혈증군(NG, n=4)으로 무작위 구분하였다. 고빌리루빈혈증의 유도는 40 mg/kg의 빌리루빈을 농축괴로 정주한 후 곧 이어 30mg/kg/hr로 4시간 동안 지속 정주하여 혈중 빌리루빈 농도를 20 mg/dL 이상으로 유지하였고 7-NI는 빌리루빈을 농축괴로 투여한 전과 후에 50 mg/kg을 복막투여 하였다. 모든 실험군은 실험 기간 동안 뇌의 혈역학적 변화를 위해 NIRS로 감시하였고 뇌 조직을 적출하여 생화학적인 변화를 관찰하였다. 결 과 : 동맥혈의 base excss, pH, 평균 동맥압은 BG군과 NG군에서 CG군에 비해 유의하게 감소하였다. BG군에서 유의하게 뇌 조직의 $Na^+$, $K^+$-ATPase activity, ATP, PCr은 유의하게 감소하고 conjugated dienes는 유의하게 증가하였으나 NG 군은 이런 이상소견이 유의하게 완화되었다(P<0.05). 뇌 혈역학적 검사상 [$HbO_2$], [HbT], 및 [HbD]는 BG군에서 CG군에 비해 유의하게 감소하였고(P<0.05) NG군은 CG군과 차이가 없었다. 실험 종료시 $ScO_2$는 세 군간에 유의한 차이가 없었다. 결 론 : 고빌리루빈혈증이 유도된 신생자돈에서 뇌의 혈역학적인 변화를 비침습적인 NIRS의 감시를 통해 유용하게 관찰할 수 있었다.

• Clinical and Experimental Pediatrics
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• 제50권9호
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• pp.835-840
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• 2007

Any infant noted to be jaundiced at 2 weeks of age should be evaluated for cholestasis with measurement of total and direct serum bilirubin. With the insight into the clinical phenotype and the genotype-phenotype correlations, it is now possible to evaluate more precisely the neonate who presents with conjugated hyperbilirubinemia. Testing should be performed for the specific treatable causes of neonatal cholestasis, specifically sepsis, galactosemia, tyrosinemia, citrin deficiency and endocrine disorders. Biliary atresia must be excluded. Low levels of serum gamma-glutamyl transferase in the presence of cholestasis should suggest progressive familial intrahepatic cholestasis type 1, 2, or arthrogryposis- renal dysfunction-cholestasis syndrome. If the serum bile acid level is low, a bile acid synthetic defect should be considered. Molecular genetic testing and molecular-based diagnostic strategies are in evolution.

• Journal of Yeungnam Medical Science
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• 제19권1호
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• pp.68-72
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• 2002

저자들은 신생아시기에서부터 담즙정체성을 나타낸 Dubin-Johnson 증후군 1예를 경험하였기에 문헌고찰과 함께 보고하는 바이다.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• 제19권1호
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• pp.1-11
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• 2016

Cholestasis results from impairment in the excretion of bile, which may be due to mechanical obstruction of bile flow or impairment of excretion of bile components into the bile canaliculus. When present, cholestasis warrants prompt diagnosis and treatment. The differential diagnosis of cholestasis beyond the neonatal period is broad and includes congenital and acquired etiologies. It is imperative that the clinician differentiates between intrahepatic and extrahepatic origin of cholestasis. Treatment may be supportive or curative and depends on the etiology. Recent literature shows that optimal nutritional and medical support also plays an integral role in the management of pediatric patients with chronic cholestasis. This review will provide a broad overview of the pathophysiology, diagnostic approach, and management of cholestasis beyond the neonatal and infancy periods.

• 대한유전성대사질환학회지
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• 제6권1호
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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.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• 제2권2호
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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.