• Clinical and Experimental Pediatrics
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• 제55권2호
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• pp.58-62
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• 2012

Carnitine (${\beta}$-hydroxy-${\gamma}$-trimethylaminobutyric acid) is involved in the transport of long-chain fatty acids into the mitochondrial matrix and the removal of potentially toxic acylcarnitine esters. Transient carnitine transport defect is a rare condition in newborns reported in 1/90,000 live births. In this paper, we describe a case of transient carnitine transport defect found in a premature baby who had prolonged cholestatic jaundice and poor weight gain, and who responded dramatically to oral carnitine supplementation.

• Advances in pediatric surgery
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• 제8권2호
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• pp.156-160
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• 2002

When jaundice persists for more than 14 days postnatally, the early diagnosis of surgical jaundice is important for the prognosis in extrahepatic biliary atresia after draining procedure. The role of diagnostic laparoscopy to differenctiate medical causes of jaundice from biliary atresia is evaluated in this report. Four patients with prolonged jaundice have been included in this study. When the gallbladder was not visualized we proceeded to laparotomy. In patients with enlarged gallbladder visualized at laparoscopy, laparoscopic guided cholangiogram was performed, and laparoscopic liver biopsy was done for those who had a patent biliary tree. Two patients had small atretic gallbladder and underwent a Kasai hepato-portoenterostomy. One patients showed a patent gallbladder and common bile duct with atresia of the common hepatic and intrahepatic ducts, and they underwent a Kasai hepatic-portoenterostomy. One patient showed an enlarged gallbladder and laparoscopic-guided cholangiogram were normal. Laparoscopic liver biopsy was performed. There were no complications. Laparoscopy with laparoscopic-guided cholangiogram may be a valuable method in accurate and earlier diagnosis in an infant with prolonged jaundice.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• 제11권sup2호
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• pp.35-43
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• 2008

Jaundice is common in breast-fed infants. Any infant noted to be jaundiced at 2 weeks of age need to be evaluated for cholestasis with measurement of total and direct serum bilirubin. The most common causes of cholestatic jaundice in infants are biliary atresia and neonatal hepatitis. Genetic causes of the neonatal hepatitis syndrome are increasingly recognized and idiopathic neonatal hepatitis is decreasing. Cholestasis should be investigated using a structured protocol. Early detection and timely, accurate diagnosis is important for successful treatment and a favorable prognosis. In particular, a Kasai portoenterostomy for biliary atresia has the best outcome if performed before the infant is 8 weeks of age. The management of cholestasis is mainly supportive, including nutritional support and alleviation of symptoms to improve the quality of life. Specific treatments are available for some causes of neonatal hepatitis syndrome and should be started as soon as possible. For decompensated liver disease, liver transplantation yields a better outcome.

• Clinical and Experimental Pediatrics
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• 제46권8호
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• pp.826-830
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• 2003

본 저자들은 출생 후 늘어지며 경구 수유를 잘 하지 못하는 증상으로 본원에서 ARCI 증후군 진단을 받고 경구용 bicarbonate, 1,25-dihydroxycholecalciferol, 비 경구 수유와 폐렴 치료를 받았으나 사망한 1례를 경험하여 이를 보고하는 바이다. 다발성 관절 구축, 신세뇨관성 산증, 담즙 정체성 간염은 ARCI 증후군의 기본적인 임상 증상이기는 하나 이들이 모두 혹은 동시에 나타나는 것은 아니므로 신생아 시기에 늘어지며 관절구축을 보이고 산증이 있는 경우 주의 깊은 추적 관찰을 통해 진단을 내리도록 해야할 것이다. 또한 이들은 성장 부진과 잦은 감염에 시달리게 되므로 일찍부터 비관 삽입 등을 통한 영양이나 감염의 증후를 잘 관찰함으로써 적절한 성장을 할 수 있도록 도와야겠다.

• 대한유전성대사질환학회지
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• 제12권1호
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• pp.35-41
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• 2012

본 연구는 심한 발현 양상을 보인 NICCD 환자의 임상상과 그들의 분자 유전학적 결과를 고찰하여, NICCD의 빠른 진단 및 치료를 통해 임상 경과의 호전을 관찰하였기에 이를 보고하는 바이다. 신생아 광범위 대사 이상 질환 스크리닝 검사의 보편화와 더불어 NICCD 환자들의 진단 수는 앞으로 지속적으로 증가할 것으로 보이며, 이들의 장기적인 경과 관찰을 통한 예후 인자 및 새로운 치료적 접근법을 도출해내야 할 것이다.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• 제22권2호
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• pp.201-206
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• 2019

Benign recurrent intrahepatic cholestasis (BRIC), a rare cause of cholestasis, is characterized by recurrent episodes of cholestasis without permanent liver damage. BRIC type 2 (BRIC2) is an autosomal recessive disorder caused by ABCB11 mutations. A 6-year-old girl had recurrent episodes of jaundice. At two months of age, jaundice and hepatosplenomegaly developed. Liver function tests showed cholestatic hepatitis. A liver biopsy revealed diffuse giant cell transformation, bile duct paucity, intracytoplasmic cholestasis, and periportal fibrosis. An ABCB11 gene study revealed novel compound heterozygous mutations, including c.2075+3A>G in IVS17 and p.R1221K. Liver function test results were normal at 12 months of age. At six years of age, steatorrhea, jaundice, and pruritus developed. Liver function tests improved following administration of phenylbutyrate and rifampicin. Her younger brother developed jaundice at two months of age and his genetic tests revealed the same mutations as his sister. This is the first report of BRIC2 confirmed by ABCB11 mutations in Korean siblings.

• Journal of Yeungnam Medical Science
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• 제18권1호
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• pp.51-58
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• 2001

담즙정체성 간염의 원인과 임상양상, 검사실 소견 및 경과를 알아보고자 1991년에서 2000년까지 영남대학교 의과대학 부속병원에서 혈액검사 및 간생검으로 담즙정체성 간염이 확진된 14명의 환자를 대상으로 후향적 연구를 시행하여 다음과 같은 결과를 얻었다. 담즙정체성 간염에서 비정상 간기능검사의 기간은 1개월에서 30개월까지 다양하게 나타났고, 항결핵제, 항생제에 의한 담즙정체성 간염이외에도 한약제, 건강식품에 의한 경우 검사실 소견과 임상경과가 중하게 나타나는 경우가 있으므로, 이들 약물을 사용한 병력이 있는 경우 정기적인 간기능 검사가 필요하다. 담즙정체성 간염이 만성 간내 담즙정체를 보이는 경우 바이러스에 의한 담즙정체성 간염과 담관소멸 증후군으로의 진행 유무, 원발성 담즙성 간경변증, 자가면역성 간염과의 감별이 필요하며, 지속적인 간기능 검사이상을 보일 경우에는 연속적인 간생검이 필요할 것으로 생각된다.

• 대한영상의학회지
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• 제83권5호
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• pp.1003-1013
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• 2022

담도폐쇄증은 원인은 알 수 없으나 간외 담도의 섬유화로 내강이 막히면서 간문부에 '섬유성 담도잔유물'의 형태로 남아있는 질환이다. 'Triangular cord' (이하 TC) sign은 간문부에 남아있는 섬유성 담도잔여물을 초음파 검사에서 나타내는 소견이다. 본 종설에서는 담도폐쇄증의 수술 및 초음파 소견의 비교, TC sign의 정의, 객관적인 진단기준, 진단의 정확도 및 감별진단에 대하여 기술하고자 한다.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• 제23권2호
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• pp.180-187
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• 2020

Giant cell hepatitis with autoimmune hemolytic anemia (AHA) is a rare disease of infancy characterized by the presence of both Coombs-positive hemolytic anemia and progressive liver disease with giant cell transformation of hepatocytes. Here, we report a case involving a seven-month-old male infant who presented with AHA followed by cholestatic hepatitis. The clinical features included jaundice, pallor, and red urine. Physical examination showed generalized icterus and splenomegaly. The laboratory findings suggested warm-type AHA with cholestatic hepatitis. Liver biopsy revealed giant cell transformation of hepatocytes and moderate lobular inflammation. The patient was successfully treated with four doses of rituximab. Early relapse of hemolytic anemia and hepatitis was observed, which prompted the use of an additional salvage dose of rituximab. He is currently in clinical remission.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• 제19권1호
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• pp.76-81
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• 2016

Carnitine palmitoyltransferase 1A (CPT1A) is an enzyme functioning in mitochondrial fatty acid oxidation (FAO) of the liver. Patients with CPT1A deficiency have impaired mitochondrial FAO and display hypoketotic hypoglycemia and hepatic encephalopathy as typical manifestations. In this report, we present a case of CPT1A deficiency presenting jaundice as the first manifestation. A 1.9 years old boy showed jaundice and elevated levels of free and total carnitine were observed. From direct sequencing analysis of CPT1A, two novel mutations, c.1163+1G>A and c.1393G>A (p.Gly465Arg), were identified. At the age of 2.2 years, hypoglycemia, tachycardia, and altered mental status developed just after cranioplasty for craniosynostosis. High glucose infusion rate was required for recovery of his vital signs and mentality. Diet rich in high carbohydrate, low fat and inclusion of medium chain triglyceride oil resulted in improvement in cholestatic hepatitis and since then the boy has shown normal growth velocity and developmental milestones to date.