• 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.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.4 no.1
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• pp.71-76
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• 2001

Purpose: Many diagnostic modalities for neonatal cholestasis have shown features that are helpful, however until recently none of them are not pathognomonic of biliary atresia (BA). We carried out a prospective study of infants with cholestatic jaundice with the aim of establishing an efficient method of diagnosing BA. Methods: Twenty-seven consecutive infants with cholestatic jaundice were enrolled in this study and ranged from 7 to 152 days in age (mean; $51.2{\pm}34.2$ days). Gastroduodenoscopy was carried out using a fiberscope (Olympus N30). All the babies were fasted for at least 4 hours before the procedure and 20 ml of 10% dextrose solution was given at the time of endoscopy. The endoscopic examination focused on the 5 minutes observation of the evidence of biliary secretion. If there was lack of the evidence of the biliary secretion, endoscopy was removed and repeated the examination with some pause. Results: There are lack of the evidence of biliary secretion in all infants with BA. In non-BA group, 8 out of the 10 infants showed biliary secretion on the first trial, however one (Alagille syndrome) of the two infants without evidence of biliary secretion, finally exhibited biliary secretion on the second trial. The above observations resulted in the diagnostic accuracy of 96.3% with 100.0% sensitivity and 90.0% specificity. Conclusion: In light of the results from our relatively small study, endoscopy is a convenient, and relative inexpensive procedure. we strongly support the use of endoscopy for the diagnosis of BA in the screening and evaluation of infantile cholestasis.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.16 no.2
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• pp.89-94
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• 2013

Purpose: The aim of this study was to evaluate the prevalence of increased aminotransferase levels and to identify associated factors in children admitted to hospital with urinary tract infections (UTIs). Methods: The study included children with a diagnosis of UTI who were admitted to the Konyang University Hospital from January 2007 to May 2011. The total number of patients was 249 and the mean age was $15.88{\pm}28.21$ months. UTI was defined as a positive urine culture (> $10^5$/colony forming unit [CFU]) with pyrexia. Patients were treated by intravenous antibiotics, such as ampicillin/sulbactam, aminoglycoside, cephalosporins or vancomycin. Patients with neonatal jaundice or other liver disease were excluded. We investigated the relationship of aminotransferase levels with the type of antibiotic, degree of vesicoureteral reflux (VUR), and causative organisms. Results: Children with increased aminotransferase levels were younger than those with normal levels (p=0.001), but white blood cell count, platelet count, causative organisms, type of antibiotics and presence of VUR were not associated with aminotransferase levels. Aminotransferase levels became normal within 1 month after discharge without special measures, except in 1 case. Conclusion: We found that many children with UTI have abnormal aminotransferase levels. In most cases, this change is mild and self-limiting. We conclude that increased aminotransferase level increase during UTI do not require unnecessary tests and excessive treatment.

• The Journal of Pediatrics of Korean Medicine
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• v.31 no.4
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• pp.39-48
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• 2017

Objectives The purpose of this study is to investigate effectiveness of the Ha-Taedok treatment and discuss how to improve the Ha-Taedok method Methods We analyzed the medical records of 20 children who were treated by Ha-Taedok method. 20 questionnaires were administered to the mothers of those children and statistically analyzed by using PASW Statistics 18. Results The children who were treated by Ha-Taedok method weighed at birth ranged from a minimum of 2.7 kg to a maximum of 3.86 kg, and the children's weight after treated by Ha-Taedok method were varied from a minimum of 2.8 kg to a maximum of 4.7 kg. The Ha-Taedok treatment was initiated to children from 3 to 23 days after their birth. 15 out of 20 mothers of the children treated by the Ha-Taedok method were satisfied with Ha-Taedok method (75%). All of them answered that they were willing to repeat the treatment to their children again or recommend the treatment to others. 10 out of 20 mothers told that the main factor/point for improvement of Ha-Taedok method was publicity. Conclusions If the effectiveness of Ha-Taedok method is scientifically proven and recommended, the scope of Ha-Taedok method for newborn infants will be widely used.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.17 no.1
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• pp.37-40
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• 2014

Purpose: Crigler-Najjar syndrome type II (CN-2) is characterized by moderate non-hemolytic unconjugated hyperbilirubinemia as a result of severe deficiency of bilirubin uridine diphosphate-glucuronosyltransferase (UGT1A1). The study investigated the mutation spectrum of UGT1A1 gene in Korean children with CN-2. Methods: Five Korean CN-2 patients from five unrelated families and 50 healthy controls were enrolled. All five exons and flanking introns of the UGT1A1 gene were amplified by polymerase chain reaction (PCR) and the PCR products were directly sequenced. Results: All children initially presented with neonatal jaundice and had persistent indirect hyperbilirubinemia. Homozygous p.Y486D was identified in all five patients. Three patients had an associated homozygous p.G71R and two a heterozygous p.G71R. The allele frequency of p.Y486D and p.G71R in healthy controls was 0 and 0.16, respectively. No significant difference in mean serum bilirubin levels was found between homozygous carriers of p.G71R and heterozygous carriers. Conclusion: The combination of homozygous p.Y486D and homozygous or heterozygous p.G71R is identified. The p.Y486D and p.G71R can be screened for the mutation analysis of UGT1A1 in Korean CN-2 patients.

• Neonatal Medicine
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• v.15 no.2
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• pp.176-182
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• 2008

A congenital portosystemic shunt is a very rare portosystemic vascular anomaly which leads to jaundice, hypoglycemia, hyperammonemia, liver cirrhosis, hepatic coma, and pulmonary hypertension. Anatomically, portosystemic shunts are divided into intra- and extrahepatic shunts. Congenital intrahepatic portosystemic shunts are rare anomalies, and the early diagnosis is important to prevent hepatic encephalopathy and hypoglycemia. We report a case of an infant with symptoms of heart failure due to a congenital intrahepatic portosystemic shunt and a ventricular septal defect (VSD), which were treated successfully with four coil embolizations and open heart surgery for the VSD.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.17 no.3
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• pp.162-169
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• 2014

Purpose: To study temporal pattern of serum liver enzymes levels in newborns with hepatic injury associated with birth asphyxia (BA). Methods: Singleton term newborns with BA and ${\leq}72$ hours of age admitted to neonatal intensive care unit were prospectively enrolled. Term newborns with physiological jaundice and without BA were studied as controls. Serum liver enzymes were measured at <24 hours, 24-72 hours, and at 6-12 days of age for cases and at 1-6 days of age for controls. BA was defined by 1 minute Apgar score <7 or delayed or absent cry with hypoxic ischemic encephalopathy. BA-associated liver injury was defined as serum alanine aminotransferase (ALT) elevation beyond +2 standard deviation (ALT > +2 SD) above the mean of control subjects at any of the three time points. Results: Sixty controls and 62 cases were enrolled. Thirty-five cases (56%) developed BA-associated liver injury (ALT>81 IU/L). They had higher serum levels of ALT, aspartate aminotransferase, lactate dehydrogenase than the control infants, with peak at 24-72 hours. In controls, serum liver enzyme levels were significantly higher in appropriate-for-date (AFD) babies than small-for-date (SFD) babies. Serum enzyme pattern and extent of elevation were comparable between SFD and AFD babies. Degree of serum liver enzyme elevation had no relationship with severity of hypoxic encephalopathy. Conclusion: Serum liver enzyme elevation is common in BA; it peaks at 24-72 hours followed by a sharp decline by 6-12 days of age. Pattern and extent of enzyme elevation are comparable between SFD and AFD babies.

• 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 Genetic Medicine
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• v.12 no.1
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• pp.49-56
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• 2015

We herein report an analysis of a female baby with a de novo dup(10p)/del(10q) chromosomal aberration. A prenatal cytogenetic analysis was performed owing to abnormal ultrasound findings including a choroid plexus cyst, prominent cisterna magna, and a slightly medially displaced stomach. The fetal karyotype showed additional material attached to the terminal region of chromosome 10q. Parental karyotypes were both normal. At birth, the baby showed hypotonia, upslanting palpebral fissures, a nodular back mass, respiratory distress, neonatal jaundice and a suspicious polycystic kidney. We ascertained that the karyotype of the baby was 46,XX,der(10)($pter{\rightarrow}q26.3::p11.2{\rightarrow}pter$) by cytogenetic and molecular cytogenetic analyses including high resolution GTG-and RBG-banding, fluorescence in situ hybridization, comparative genomic hybridization, and short tandem repeat marker analyses. While almost all reported cases of 10p duplication originated from one of the parents with a pericentric inversion, our case is extraordinarily rare as the de novo dup(10p)/del(10q) presumably originated from a rearrangement at the premeiotic stage of the parental germ cell or from parental germline mosaicism.

• Women's Health Nursing
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• v.29 no.1
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• pp.20-31
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• 2023

Purpose: As more newborns have received expanded newborn screening (NBS) for metabolic disorders, the overall number of false-positive results has increased. The purpose of this study was to explore the psychological impacts experienced by mothers related to the NBS process. Methods: An online parenting community in Korea was selected, and questions regarding NBS were collected using web crawling for the period from October 2018 to August 2021. In total, 634 posts were analyzed. The collected unstructured text data were preprocessed, and keyword analysis, topic modeling, and visualization were performed. Results: Of 1,057 words extracted from posts, the top keyword based on 'term frequency-inverse document frequency' values was "hypothyroidism," followed by "discharge," "close examination," "thyroid-stimulating hormone levels," and "jaundice." The top keyword based on the simple frequency of appearance was "XXX hospital," followed by "close examination," "discharge," "breastfeeding," "hypothyroidism," and "professor." As a result of LDA topic modeling, posts related to inborn errors of metabolism (IEMs) were classified into four main themes: "confirmatory tests of IEMs," "mother and newborn with thyroid function problems," "retests of IEMs," and "feeding related to IEMs." Mothers experienced substantial frustration, stress, and anxiety when they received positive NBS results. Conclusion: The online parenting community played an important role in acquiring and sharing information, as well as psychological support related to NBS in newborn mothers. Nurses can use this study's findings to develop timely and evidence-based information for parents whose children receive positive NBS results to reduce the negative psychological impact.