• Clinical and Experimental Pediatrics
• /
• v.49 no.1
• /
• pp.6-13
• /
• 2006

Jaundice is one of the most common gastrointestinal conditions found in neonatal period, and most jaundice is benign. But because of the possibility of bilirubin toxicity, every newborn infants must be examined to identify the development of severe hyperbilirubinemia. To prevent the development of severe hyperbilirubinemia, promote and support successful breast-feeding, perform a systemic assessment before discharge for the risk of severe hyperbilirubinemia, provide early and close follow-up program, and treat with phototherapy or exchange transfusion or other therapeutic modalities, if indicated, are recommended.

• The Journal of Pediatrics of Korean Medicine
• /
• v.30 no.4
• /
• pp.99-110
• /
• 2016

Introduction Jaundice is one of the most common conditions found in neonatal period. Phototherapy is one of the main treatments for neonatal jaundice. However, several adverse effects of the phototherapy have been reported, including DNA damage recently. Therefore, a variety of treatments have been conducted to shorten the duration of phototherapy. Meanwhile, it has been hardly tried to prevent neonatal jaundice, but diverse approaches have been tried in traditional Chinese medicine (TCM) for many years. Therefore, this study aims to analyze the studies for the treatments to prevent neonatal jaundice based on TCM. Materials and Methods Various literatures have been searched via CNKI, and PubMed using the terms "neonatal jaundice" (新生儿黄疸, 胎黃, 胎疸) in category of 'Traditional Chinese Medicine', 'Traditional Chinese Medicinal Herbs' and 'Combination of Traditional Chinese Medicine With Western Medicine'. The search range included randomized controlled trials (RCTs), controlled clinical trials (CCTs), case reports, reviews and animal experiments published from 2013 to 2015. Results A total of 104 studies were found. 93 articles were excluded by reviewing the titles and abstracts. Out of the remaining 11 studies, 9 articles were RCTs, 2 articles were CCTs. The treatment used in neonatal babies in the studies were, using herbal remedies (meditation 5, bath 3 and retention enema 1) and the acupressure. All treatments were initiated within the first 24-48 hours after their birth. Then, there was a study that the subjects taken the herbal medicine were women during pregnancy. The outcome assessments used were the serum total bilirubin (TB), transcutaneous bilirubin measurement (TCB), the incidence of the hyperbilirubinemia, the duration time of the jaundice. Especially, TB, TCB and the incidence of the hyperbilirubinemia have decreased significantly more than that of the control group in the most of the results. No severe adverse events were reported in all articles reviewed. Conclusions Conventional treatment such as, herbal medicine in TCM, seems to be the effective way to prevent neonatal jaundice or hyperbilirubinemia. Therefore, the conventional treatment may be favorable choice for preventive treatment for neonatal jaundice.

• Neonatal Medicine
• /
• v.17 no.2
• /
• pp.266-269
• /
• 2010

Gilbert's syndrome is caused by a reduction in the activity of uridine diphosphate glucuronosyltransferase (UGT) and induces chronic, non-hemolytic unconjugated hyperbilirubinemia. It has been suggested that 3-10% of the population has Gilbert's syndrome. Commonly, Gilbert's syndrome causes mild symptoms. However, a case of Gilbert's syndrome with severe neonatal hyperbilirubinemia is presented here. The patient developed jaundice three days after birth. Five days after birth, the patient's total serum bilirubin level was 34 mg/dL. The patient received intensive phototherapy and was given oral phenobarbital. Hemolytic hyperbilirubinemia was excluded on the basis of laboratory tests. Heterozygote polymorphisms of the promoter region (-3279T>G) and exon 1 (211G>A) were found in UGT1A1 gene. After discharge, the patient did not require any further treatment. This is the first case of proven Gilbert's syndrome with severe neonatal hyperbilirubinemia in Korea.

• Clinical and Experimental Pediatrics
• /
• v.60 no.4
• /
• pp.106-111
• /
• 2017

Purpose: This study aimed to determine the prevalence of glucose-6-phosphate dehydrogenase (G6PD) deficiency among infants with neonatal indirect hyperbilirubinemia (NIH); compare G6PD-deficient and G6PD-normal patients regarding hyperbilirubinemia and need for exchange transfusions (ET); and assess risk factors for ET and kernicterus. Methods: This is a case-control retrospective study. Medical records of NIH patients admitted to the Pediatric Department, Salmaniya Medical Complex, Bahrain, between January 2007 and June 2010 were reviewed. Data on sex, age at presentation, hospitalization duration, need for ET, hemoglobin (Hb) level, reticulocyte count, direct Coombs test, serum total and indirect bilirubin levels, thyroid function, blood and urine cultures, G6PD status, and blood groups were collected and compared between the G6PD-deficent and G6PD-normal patients. Results: Of 1,159 NIH patients admitted, 1,129 were included, of whom 646 (57%) were male. Among 1,046 patients tested, 442 (42%) were G6PD deficient, 49 (4%) needed ET, and 11 (1%) had suspected Kernicterus. The G6PD-deficient patients were mainly male (P<0.0001), and had lower Hb levels (P<0.0001) and higher maximum bilirubin levels (P=0.001). More G6PD-deficient patients needed ET (P<0.0001). G6PD deficiency (P=0.006), lower Hb level (P=0.002), lower hematocrit count (P=0.02), higher bilirubin level (P<0.0001), higher maximal bilirubin level (P<0.0001), and positive blood culture result (P<0.0001) were significant risk factors for ET. Maximal bilirubin level was a significant risk factor for kernicterus (P=0.021) and independently related to ET (P=0.03). Conclusion: G6PD deficiency is an important risk factor for severe NIH. In G6PD-deficent neonates, management of NIH should be hastened to avoid irreversible neurological complications.

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

• Clinical and Experimental Pediatrics
• /
• v.49 no.1
• /
• pp.34-39
• /
• 2006

Purpose : The incidence of neonatal hyperbilirubinemia is twice as high in East Asians as in Caucasians. However, its metabolic basis has not been clearly explained. The UDP-glucuronosyltransferase gene(UGT1A1) mutation was found to be a risk factor of neonatal hyperbilirubinemia. We studied whether neonatal hyperbilirubinemia is associated with the 1828G>A(rs 10929303) polymorphism of the UGT1A1 gene, which encodes for a key enzyme of bilirubin metabolism. Methods : The genomic DNA was isolated from 80 Korean full term neonates who had greater than a 12 mg/dL level of serum bilirubin with no obvious cause, and the genomic DNA was also isolated from 164 Korean neonates of the control population. We studied a single nucleotide polymorphism (SNP) of 1828G>A in the untranslated region of the UGT1A1 gene by direct sequencing. Results : Three of the 80 neonates with a serum bilirubin level above 12 mg/dL had homozygous mutations and 10 of the 80 neonates with a serum bilirubin level above 12 mg/dL had heterozygous mutations. Thirteen of the 164 neonates of the control group had homozygous mutations and 16 neonates of the control group had heterozygous mutations. The allele frequency of 1828G>A polymorphism of UGT1A1 in the hyperbilirubinemia group was 10.0 percent, which was not significantly different from the allele frequency of 12.8 percent in the control group. Conclusion : In this study, the 1828G>A polymorphism of the UGT1A1 gene was detected in the Korean neonates with neonatal hyperbilirubinemia. Our results indicated that this SNP is not associated with the prevalence of hyperbilirubinemia in Koreans.

• Clinical and Experimental Pediatrics
• /
• v.51 no.3
• /
• pp.262-266
• /
• 2008

Purpose : Glutathione S-transferase (GST) is a polymorphic supergene family of detoxification enzymes that are involved in the metabolism of numerous diseases. Several allelic variants of GSTs show impaired enzyme activity and are suspected to increase the susceptibility to diseases. Bilirubin is bound efficiently by GST members. The most commonly expressed gene in the liver is GSTM1, and GSTT1 is expressed predominantly in the liver and kidneys. To ascertain the relationship between GST and neonatal hyperbilirubinemia, the distribution of the polymorphisms of GSTT1 and GSTM1 were investigated in this study. Methods : Genomic DNA was isolated from 88 patients and 186 healthy controls. The genotypes were analyzed by polymerase chain reaction (PCR). Results : The overall frequency of the GSTM1 null was lower in patients compared to controls (P=0.0187, Odds ratio (OR) =0.52, 95% confidence interval (CI), 0.31-0.88). Also, the GSTT1 null was lower in patients compared to controls (P=0.0014, OR=0.41, 95% CI=0.24-0.70). Moreover, the frequency of the null type of both, in the combination of GSTM1 and GSTT1, was significantly reduced in jaundiced patients (P=0.0008, OR=0.31, 95% CI=0.17-0.61). Conclusion : We hypothesized that GSTM1 and GSTT1 might be associated with neonatal hyperbilirubinemia. However, the GSTT1 and GSTM1 null type was reduced in patients. Therefore the null GSTT1, null GSTM1, and null type of both in the combination of GSTM1 and GSTT1 may be not a risk factor of neonatal jaundice.

• Clinical and Experimental Pediatrics
• /
• v.50 no.1
• /
• pp.28-32
• /
• 2007

Purpose : Human angiotensin converting enzyme (ACE) gene shows an insertion/deletion polymorphism in 16 intron, and three genotypes are determined by whether a 287 bp fragment of the DNA is present or not; II, ID and DD genotype. DD genotype has been suggested as a risk factor of chronic nephrotic disease such as IgA nephropathy and diabetic nephropathy, various cardiovascular diseases and several other diseases. ACE activity increases in acute hepatitis, chronic persistent hepatitis, chronic active hepatitis and cirrhosis. On the other hand, patients with fatty livers have normal ACE activity. This study was designed to find out the relation between polymorphsims of the ACE genes and neonatal hyperbilirubinemia in Koreans. Methods : The genomic DNA was isolated from 110 full-term Korean neonates who had hyperbilirubinemia with no obvious causes (serum bilirubin$${\geq_-}12mg/dL$$) and 164 neonates of a control population (serum bilirubin <12 mg/dL). We performed polymerase chain reaction (PCR) to see the allele of the ACE gene. Electrophoresis was done in the PCR products in 1.5 percent agarose gel, and then DNA patterns were directly visualized under ethidium bromide staining. Results : ACE genotypes in the hyperbilirubinemia group are as follows; 26.36 percent for II, 53.64 percent for ID, 20.00 percent for DD, 0.532 for I allele and 0.468 for D allele. These distributions were not significantly different from those in the control group; 24.39 percent for II, 51.83 percent for DI, 23.78 percent for DD, 0.503 for I allele and 0.497 for D allele. Conclusion : In this study, ACE gene polymorphism was detected in the neonatal hyperbilirubinemia and control group. The most frequent genotype was ID. Our results indicate that the ACE gene polymorphism is not associated with the prevalence of neonatal hyperbilirubinemia in Koreans.

• Journal of Appropriate Technology
• /
• v.7 no.2
• /
• pp.206-210
• /
• 2021

Hyperbilirubinemia is the most common neonatal disease and is observed in about 80% of newborns worldwide in neonatal period within a week after birth. Untreated infant hyperbilirubinemia may lead to brain damage and even death, so it is very important to diagnose it quickly and accurately. In this study, a total bilirubin measurement system was developed that is portable and easy to use without pre-processing using a commercial smartphone. This system measures using the LED and camera of the smartphone without the need for additional devices, and because a small amount of blood is injected without pre-treatment, anyone can easily measure it in the field. In a comparative study with Cobas c111 results, accuracy meets CLIA guidelines with 94% (17/18) within ±0.4 mg/dL below 3 mg/dL and 98% within ±20% above 3 mg/dL (276/282). This system offers a simple, fast and accurate diagnosis for jaundice in infants and young children in low-resource settings.

• Clinical and Experimental Pediatrics
• /
• v.50 no.9
• /
• pp.835-840
• /
• 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.