• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.9 no.2
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• pp.242-248
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• 2006

Purpose: Neonatal hepatitis is the major cause of neonatal cholestasis and may be divided into infectious, metabolic, genetic, and idiopathic neonatal hepatitis. Non-familial, non-metabolic, and non-A, B, C viral neonatal hepatitis is known to have made satisfactory progress, but little is known about its chronic clinical features. Methods: Clinical and histological assessments were carried out in 34 cases with chronic neonatal hepatitis [elevated serum alanine aminotrasferase (ALT) level for more than 6 months] except for A, B, C viral hepatitis, metabolic, or genetic neonatal hepatitis, who were admitted to the Department of Pediatrics, Pusan National University Hospital, from January 1998 to January 2004. Results: Males were more common (70%). Jaundice (100%) and hepatomegaly (44%) were frequent manifestations. Peak serum ALT levels were most commonly below 300 IU/L in 41.2% of patients and peak serum direct bilirubin levels were most commonly between 1.0~5.0 mg/dL in 50% of patients. Ten cases (34%) of 29 patients had positive serum cytomegalovirus (CMV) IgM or urine CMV polymerase chain reaction. Serum ALT level was normalized within 1 year in 11 (37.9%) of 29 cases, and within 2 years in 9 (69.2%) of 13 cases. Serum ALT level was elevated persistently over 2 years in four (30.7%) of 13 cases. Histologic findings such as portal or periportal activity, lobular necrosis, portal or periportal fibrosis were more severe in patients with persistent ALT elevation over 2 years than in those showing normalization of ALT within 2 years (p>0.05). Conclusion: When the elevation of ALT level sustains over 1 year in non-familiar, non-metabolic, non-A, B, C viral neonatal hepatitis, an assessment of the severity of liver injury and a careful monitoring about chronic liver disease may be required.

• Journal of Genetic Medicine
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• v.4 no.2
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• pp.200-203
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• 2007

Niemann-Pick type C is an inborn error of metabolism that affects lipid degradation and storage, which is characterized by hepatosplenomegaly and progressive neurological symptoms. A 7-month-old girl with jaundice was presented cholestasis and hepatosplenomegaly. Laboratory study showed elevated acid phosphatase, angiotensin converting enzyme and mild decrease of cholesterol. Characteristic foamy cell and sea-blue histiocytes in bone marrow biopsy consistent with Niemann-Pick disease. Niemann-Pick type C was suspected by past medical history and findings of physical examination. Therefore, molecular analysis was performed and found mutations of NPC1 gene. We report the first Korean case of type C Niemann-Pick disease confirmed by mutation analysis.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.20 no.2
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• pp.114-123
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• 2017

Purpose: The goal of this study was the early diagnosis of ABCB11 spectrum liver disorders, especially those focused on benign recurrent intrahepatic cholestasis and progressive familial intrahepatic cholestasis. Methods: Fifty patients presenting neonatal cholestasis were evaluated to identify underlying etiologies. Genetic analysis was performed on patients suspected to have syndromic diseases or ABCB11 spectrum liver disorders. Two families with proven ABCB11 spectrum liver disorders were subjected to genetic analyses to confirm the diagnosis and were provided genetic counseling. Whole exome sequencing and Sanger sequencing were performed on the patients and the family members. Results: Idiopathic or viral hepatitis was diagnosed in 34%, metabolic disease in 20%, total parenteral nutrition induced cholestasis in 16%, extrahepatic biliary atresia in 14%, genetic disease in 10%, neonatal lupus in 2%, congenital syphilis in 2%, and choledochal cyst in 2% of the patients. The patient with progressive familial intrahepatic cholestasis had novel heterozygous mutations of ABCB11 c.11C>G (p.Ser4*) and c.1543A>G (p.Asn515Asp). The patient with benign recurrent intrahepatic cholestasis had homozygous mutations of ABCB11 c.1331T>C (p.Val444Ala) and heterozygous, c.3084A>G (p.Ala1028Ala). Genetic confirmation of ABCB11 spectrum liver disorder led to early liver transplantation in the progressive familial intrahepatic cholestasis patient. In addition, the atypically severe benign recurrent intrahepatic cholestasis patient was able to avoid unnecessary liver transplantation after genetic analysis. Conclusion: ABCB11 spectrum liver disorders can be clinically indistinguishable as they share similar characteristics related to acute episodes. A comprehensive genetic analysis will facilitate optimal diagnosis and treatment.

• Neonatal Medicine
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• v.16 no.1
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• pp.55-63
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• 2009

Purpose: This study was conducted to investigate the incidence and clinical manifestations of rotaviral infections in the neonatal intensive care unit (NICU). We also investigated whether neonates referred from other hospitals cause outbreaks of rotaviral infections in the NICU. Methods: Neonates diagnosed wit rotaviral infections in the NICU at Korea University Ansan Hospital between January 2002 and December 2006 were evaluated retrospectively. Results: Of 1,501 neonates admitted to the NICU, the number of rotaviral infections was 94 (6.3%) and the prevalence was 4.9 cases per 1,000-hospital days. Of 223 neonates referred from other hospitals to our NICU, 24 (10.8%) were confirmed to have rotaviral infections at the time of referral. Common symptoms of rotaviral infections were jaundice diarrhea or loose stools, vomiting, fever, apnea, irritability, seizures, and moaning sounds. Necrotizing enterocolitis of stage II or more was diagnosed in 3 premature neonates, accounting for 3.2% of total infected neonates and 6.8% of premature infected patients. There were no statistically significant differences in the prevalence of symptoms between term and preterm neonates, except for jaundice that is more frequent in premature infants. In time series analysis, the admission of neonates who were born at other hospitals and diagnosed with rotaviral infections were associated 1 month later by increased cases of neonates with rotaviral infections who were born at our hospital, whereas new cases of rotaviral infections among inborn neonates were decreased 2 and 4 months later (P<0.05). Conclusion: Rotaviral infections in NICU were not rare and showed vague symptoms. Three cases (3.2%) were diagnosed with stage II or more necrotizing enterocolitis. The referred neonates with rotaviral infections may induce outbreaks in the NICU, therefore awareness and strict surveillance for rotaviral infections should be performed at the time of referral.

• Neonatal Medicine
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• v.16 no.2
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• pp.244-247
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• 2009

Thyroid hemiagenesis is a rare congenital anomaly in which one thyroid lobe fails to develop. Thyroid hemiagenesis usually does not cause clinical symptoms by itself, therefore, this anomaly is detected incidentally during the evaluation of other thyroid disorders. We describe a rare case of thyroid hemiagenesis in a 1-month-old female infant who presented with prolonged jaundice and abnormal laboratory findings of congenital hypothyroidism. The patient showed the characteristic features of thyroid hemiagenesis of the left lobe in Tc-99m pertechnetate scintigraphy and ultrasonography of the thyroid gland. The patient has improved with supportive care, including thyroid hormone replacement. Further long-term follow-up is required for the investigation of recurrence of thyroid abnormalities.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.13 no.2
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• pp.126-130
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• 2013

Galactosemia is a metabolic disorder inherited by the recessive autosome, and appears by the deficiency of one enzyme out of GALT (Galactose-1-Phosphate Uridyltransferase), GALK (galactokinase), and GALE (epimerase) enzymes, among which the GALT deficiency disease is denominated as classical galactosemia and known to have symptoms such as severe nausea, jaundice, hepatomegaly, sucking difficulty and so on. We report the case of a 16-day-old female baby with the new p.A101D mutation together with p.N413d in the GALT gene analysis found in the neonatal screening test and diagnosed to have galactosemia by the GALT deficiency through the enzyme analysis. For the prognosis prediction, the treatment, the genetic counseling and the prenatal diagnosis of the patients, more detailed genetic diagnosis is required by performing GALT gene analysis, and it is deemed to be necessary to analyze the correlation between the phenotype and the genotype of the domestic galactosemia patients.

• Clinical and Experimental Pediatrics
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• v.50 no.9
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• pp.848-854
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• 2007

Purpose : The present study examined the etiology and risk factors of the early breast-feeding jaundice and the usefulness of auditory brainstem response test as early predictor of kernicterus. Methods : Medical records of neonatal jaundice in newborn admitted to Daegu Fatima Hospital between September 2005 and May 2006 were analyzed prospectively. Infants were grouped according to feeding method : breast feeding group (breast feeding only, n=23), mixed feeding group (breast feeding mainly plus addition of fomula feeding, n=13). Results : There were no significant differences in gestational age, birth weight, sex, duration of phototherapy, serum bilirubin and hemolytic evidence between the two study groups. First visiting day of life at out patient department was significantly delayed in breast feeding group ($8.7{\pm}3.6day$) compared to mixed feeding group ($6.0{\pm}1.9$) (P=0.009). Weight loss was significantly severe in breast feeding group compared to mixed feeding group (P<0.05). In auditory brainstem response test, loss of Wave V in 3 cases was observed and recoverd after blood exchange transfusion in follow up test.Wave III latency had significant correlation to serum bilirubin in auditory brainstem response test (70 dB) (P=0.002). Conclusion : Our study suggest that further education about breast feeding and follow up within the first postnatal week would be necessary for early detection and prevention of early breast-feeding jaundice. Test of serum bilirubin and auditory brainstem response would be helpful in determination of blood exchange transfusion.

• Clinical and Experimental Pediatrics
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• v.48 no.4
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• pp.380-386
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• 2005

Purpose : The incidence of nonphysiologic neonatal hyperbilirubinemia is twice as high in East Asians as in whites. Recently, UGT1A1 mutation was found to be a risk factor for neonatal hyperbilirubinemia. In congenitally-jaundiced Gunn rats, which lack expression of UDP-glucuronosyltransferase, alternative pathways can be stimulated by inducers of CYP1A1 and CYP1A2 enzymes. CYP1A2 plays a major role in bilirubin degradation of the alternate pathway. We studied the relationship between UGT1A1 and CYP1A2 gene polymorphism of neonatal hyperbilirubinemia in Koreans. Methods : Seventy-nine Korean full term neonates who had hyperbilirubinemia(serum bilirubin >12 mg/dL) without obvious causes of jaundice, were analyzed for UGT1A1 and CYP1A2 gene polymorphism; the control group was sixty-eight. We detected the polymorphism of Gly71Arg of UGT1A1 gene by direct sequencing and T2698G of CYP1A2 by polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP) using MboII and direct sequencing. Results : Allele frequency of Gly71Arg mutation in the hyperbilirubinemia group was 32 percent, which was significantly higher than 11 percent in the control group(P<0.0001). Mutant gene frequency of T2698G was 41.8 percent in patients and 32.3 percent in the control group(P=0.015), but allele frequency was 21 percent in patients and 19 percent in the control group, which was not significantly higher(P=0.706). There was no relationship between mutations of two genes(P=0.635). Conclusion : The polymorphism of UGT1A1 gene(Gly71Arg) and CYP1A2 gene(T2698G) was detected in Korean neonatal hyperbilirubinemia. Only polymorphisms of Gly71Arg in UGT1A1 were significantly higher than control group.

• Journal of Preventive Medicine and Public Health
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• v.17 no.1
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• pp.193-202
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• 1984

Clinical and statistical observations were performed on 1,930 cases of pregnant women who were admitted for delivery in the Department of Obstetrics, Kyung Hee University Hospital during 1 year (1982) and on 1,961 cases of neonates who were born to the former. The results were obtained as follows: 1. Concerning maternal age distribution, the commonest age group was that of $25{\sim}29$ and the proportion of the age group $20{\sim}29$ was 82.4% of all. 2. Concerning obstetrical history, the proportion of the women who had no prior experience of delivery nor abortion was the highest, 45.5%. 3. Concerning abortion history, 36.1% of the women had experienced it and the mean number was 1.8. 4. Type of delivery was as follows: Spontaneous delivery; 58.1%, Vacuum extracted delivery; 22.4%, Cesarean section; 18:8%, Breech delivery; 0.7%. 5. Gestational period distribution of the neonates was as follows: Under 37 weeks (Preterm); 7.1%, Between 38 and 42 weeks (Term); 87.2%, More than 43 weeks (Postterm); 5.7%. 6. Sex ratio of male to female of the neonates was 1.03:1. 7. Birth weight distribution was as follows: Under 2,500gm.; 9.0%, Between 2,501 and 4,000 gm.; 85.5%, More than 4,001gm.; 5.5%. 8. The measured growth data of neonates were as follows: Body weight; 3.28kg. for male, 3.18kg. for female, Body height; 50.40cm for male, 49.77cm for female, Chest circumference; 32.54cm for male. 32.17cm for female, Head circumference; 33.49cm for male, 33.11cm for female. 9. The mean values of Apgar score per 1 minute were 7.70 for male and 7.63 for female. 10. The incidence rate of neonatal jaundice was 50.0% and no difference in sex respectively, but more prevalent in preform baby. 11. The incidence rate of neonatal diseases was 8.9% and the commonest disease was neonatal infection (35.6%). 12. Concerning multiple pregnancy, ratio to single births was 1 : 64.3 and the sex ratio of male to female was 1 : 1.03. 13. The incidence rate of congenital anomaly was 2.4% and the commonest anomaly was digestive system anomaly (30.9%). 14. The neonatal mortality rate was 11.73 per 1,000 neonates, and the majority of neonatal deaths were in low birth weight and preform neonates (78.3%). 15. The causes of neonatal deaths in decreasing order of frequency were abnormal ventilation (39.1%), prematurity (30.4%), congenital anomaly (13.0%) and etc.

• Journal of Genetic Medicine
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• v.5 no.2
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• pp.131-135
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• 2008

Classical galactosemia is an autosomal recessive disorder of galactose metabolism, caused by a deficiency of the enzyme galactose-1-phosphate uridyltransferase (GALT). Buildup of galactose-1-phosphate is toxic at high levels and can damage the liver, brain, eyes, and other vital organs. The case presented here was that of an 11-day-old female infant who had elevated galatose levels upon initial neonatal screening test with persistent cholestatic jaundice, coagulopathy, and hepatomegaly. The patient was transferred due to aggravation of clinical symptoms including bleeding and jaundice. She had a delayed galactose free diet because of an inappropriate diagnosis. We quickly provided her with a lactose/galactose-restricted diet as per her final diagnosis. Clinical and laboratory results were improved after a few days of treatment. For confirmatory testing for classical galactosaemia, we simultaneously analyzed for GALT enzyme activity and allele-specific PCR/fragments for seven mutations and two polymorphisms in the GALT gene. We were able to find several GALT-deficient and compound heterozygous mutations of the GALT gene.