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Original Article
Alagille syndrome and a JAG1 mutation: 41 cases of experience at a single center
Kyung Jin Ahn, Ja Kyoung Yoon, Gi Beom Kim, Bo Sang Kwon, Jung Min Go, Jin Su Moon, Eun Jung Bae, Chung Il Noh
Clin Exp Pediatr. 2015;58(10):392-397.   Published online October 21, 2015

Alagille syndrome is a complex hereditary disorder that is associated with cardiac, hepatic, skeletal, ocular, and facial abnormalities. Mutations in the Notch signaling pathway, such as in JAG1 and NOTCH2, play a key role in embryonic development. A cardiac or hepatic presentation is a critical factor for determining the prognosis.


We conducted a retrospective study of 41 patients with Alagille syndrome...

Review Article
The etiologies of neonatal cholestasis
Jae Sung Ko, Jeong Kee Seo
Clin Exp Pediatr. 2007;50(9):835-840.   Published online September 15, 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 genotypephenotype 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...
Original Article
A case of hereditary pancreatitis with a N29I mutation in the cationic trypsinogen gene
Jee Youn Shin, You Jeong Kim, Jeong Kee Seo
Clin Exp Pediatr. 2006;49(10):1067-1072.   Published online October 15, 2006
Purpose : The purpose of this study was to examine the clinical courses and long-term outcomes of children with Allagille syndrome in Korea, and to evaluate the prognostic potentials of identified variables. Methods : We reviewed the clinical manifestations and outcomes of 30 children with Alagille syndrome, investigated from 1984 to 2006 until the end of this study (defined as death...
Comparison of total parenteral nutrition-associated cholestasis according to amino acid mixtures in very low birth weight infants
Jin-Sung Choi, Yun-Jin Bae, Young Ah Lee
Clin Exp Pediatr. 2006;49(9):972-976.   Published online September 15, 2006
Purpose : The purpose of this study was to evaluate the effect of amino acid mixtures on incidence and severity of total parenteral nutrition associated-cholestasis(PNAC) in very low birth weight infants. Methods : Retrospective review of 63 very low birth weight infants(birth weight ≤1,500 g) who received total parenteral nutrition(TPN) in our neonatal intensive care unit from January 2000 to...
The diagnostic significance of serum bile acid on total parenteral nutrition induced cholestasis in premature infants
Kyoung Soo Park, Myung Seok Shin, Mea Young Chang
Clin Exp Pediatr. 2006;49(8):851-856.   Published online August 15, 2006
Purpose : The purpose of this study is to find out the diagnostic significance of serum bile acid on total parenteral nutrition induced cholestasis in premature infants. Methods : Infants without cholestasis were classified into postnatal days and each change of serum bile acid was measured and analyzed. Also, the serum direct bilirubin, serum bile acid, γ-glutamic acid transferase, and alkaline...
Clinical Findings of Sepsis-Associated Cholestasis in the Neonates
Soo Jung Yoon, Chun Soo Kim, Sang Lak Lee
Clin Exp Pediatr. 2004;47(4):380-385.   Published online April 15, 2004
Purpose : Bacterial endotoxins or inflammatory cytokines are known to be important causes of cholestasis in patients with systemic infections such as sepsis. This study was undertaken to investigate the clinical features of cholestasis in newborn infants with sepsis. Methods : This study included 17 neonates with cholestasis diagnosed at the time of septicemia who had no previous history of cholestasis....
Total Parenteral Nutrition-associated Cholestasis in Premature Infants
Kyung Pil Park, Se Young Kim, Heng Mi Kim
Clin Exp Pediatr. 2003;46(1):17-23.   Published online January 15, 2003
Purpose : Cholestasis is a major complication in prolonged use of TPN, especially in the neonatal period, but there are few long-term reviews examining the clinical course in premature infants. Thus, in this study, we reviewed premature infants with TPN-associated cholestasis(TPNAC) to determine the incidence, clinical courses and possible risk factors. Methods : Retrospective review of 66 premature infants less than...
Clinical Effects of Cyclic Parenteral Nutrition on Total Parenteral Nutrition Induced Cholestasis in Infants
Eun-Hee Chung, Kang Mo Ahn, Yun-Sil Chang, Won-Soon Park, Nam-Sun Beck, Jae-Hyun Lee
Clin Exp Pediatr. 1999;42(12):1689-1695.   Published online December 15, 1999
Purpose : This study was designed to assess the effects of cyclic parenteral nutrition(CP) on parenteral nutrition induced liver diseases. Methods : Before and after CP, data were collected on diagnosis, age, duration of parenteral nutrition, macronutrients and biochemical parameters. Initially parenteral nutrition was cycled off for 1-2 hours and the off-time was advanced by 0.5-1 hour daily over 1 week....
Case Report
A Case of Nonsyndromic Paucity of Interlobular Bile Ducts in Down Syndrome
Chun Hyuk Chang, Jun Ho Kim, Sun Ju Le, Dong Seok Lee, Doo Kwun Kim, Sung Min Choi, Woo Taek Kim, Tae Jung Jang
Clin Exp Pediatr. 1999;42(6):858-862.   Published online June 15, 1999
The nonsyndromic paucity of interlobular bile ducts, which belongs to intrahepatic biliary atresia, is characterized by conjugated hyperbilirubinemia, suggesting cholestasis in newborn infants it has little relationship with extrahepatic congenital abnormalities. Pathologic findings through percutaneous liver biopsy show portal changes(duct paucity and fibrosis) and lobular changes(cholestasis, giant cell transformation, extramedullary hematopoiesis and perisinusoidal fibrosis). The overall incidence of intrahepatic biliary...
A Case of Neonatal Cholestasis with Arthrogryposis Multiplex Congenita and Renal Tubular Insufficiency(ARC Syndrome)
Hi Soo Rhee, Soon Young Kim, Nam Sun Baik, Il Soo Ha, Jeong Kee Seo
Clin Exp Pediatr. 1996;39(1):126-130.   Published online January 15, 1996
We report a case of ARC syndrome with arthrogryposis multiplex congenita, renal tubular insufficiency and cholestasis. The Patient presented in the early neonatal period with micrognathia, low set ears, high arched palate, multiple joint contracture, conjugated hyperbilirubinemia and failure to thrive. He died at the age of 1 month despite medical therapy. Findings of renal tubular insufficiency included persistent renal...
Original Article
Infantile Choledochal Cyst Presenting with Neonatal Cholestasis; Review of Anatomical and Clinical Aspect
Jae Won Jeong, Jeong Kee Seo, Kwi Won Park, In Won Kim
Clin Exp Pediatr. 1995;38(12):1629-1637.   Published online December 15, 1995
Purpose : Extrahepatic biliary atresia, neonatal hepatitis, Allagille syndrome are most common primary causes of the neonatal cholestasis. Infantile choledochal cyst is another primary disease presenting with neonatal cholestasis but its incidence is so low that it has been reported rarely. Choledochal cyst in infancy has been known to have clinically and anatomically different characteristics from ones after infancy. Thus...
A case of benign recurrent intrahepatic cholestasis.
Jae Hong Park, Sung Sub Sim, Soo Young Kim, Hee Joo Jeon, Chan Yung Kim
Clin Exp Pediatr. 1991;34(12):1745-1752.   Published online December 31, 1991
The clinical picture of beingn recurrent intrahepatic cholestasis (BRIC) consists of multiple epi- sodes of cholestatic jaundice without extrahepatic bile duct obstruction. Since first description by Summerskill and Walshe in 1959, almost 100 patients with BRIC have been described. The mechanism involved in the initiation and perpetution of an episode of cholestasis are unknown. Altered bile acid metabolism has been proposed to play a...
A study of neonatal cholestasis and cytomegalovirus infection.
Moon A Kim, Ki Sup Chung
Clin Exp Pediatr. 1989;32(11):1474-1481.   Published online November 30, 1989
A clinical assessment of 25 patients with neonatal cholestasis caused by cytomegalovirus infection who were admitted to the Department of Pediatrics, Yonsei University College of Medicine from January 1983 to July 1988 was performed. The results were as follows: 1) The patients with neonatal cholestasis caused by cytomegalovirus infection were 19% of the total patients with neonatal cholestasis from January 1983 to July 1988 and were...
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