Neonatal Indirect Hyperbilirubinemia Research Articles

Role of vitamin E supplementation in neonates with hyperbiirubinemia

Objective The objective of this study was to evaluate the effect of vitamin E supplementation in the treatment of indirect hyperbilirubinemia in neonates receiving phototherapy. Background Hyperbilirubinemia is a common neonatal problem. Phototherapy is the primary treatment in neonates with indirect hyperbilirubinemia. Patients and methods This randomized controlled clinical trial was conducted on 150 full-term neonates with indirect hyperbilirubinemia, received phototherapy in the neonatal ICU of Menoufia University Hospital. They were randomly divided into three groups: (a) case group (n = 50) who received 25 mg/kg/day oral vitamin E with phototherapy, (b) case group (n = 50) who received 50 mg/kg/day oral vitamin E with phototherapy, and (c) control group (n = 50) who received only phototherapy. Total serum bilirubin (TSB) levels were measured every day until cessation of phototherapy. Results There was a highly significant difference in the duration of hospital stay of the studied groups. There was no significant difference in TSB on admission, but there was a highly significant difference in TSB at discharge of the studied groups. There was a highly significant difference in bilirubin decline of the studied groups, groups II and I and groups I and III, but no significant difference between groups II and III. There was no correlation between age and body weight in bilirubin decline in all groups. There was no significant difference in bilirubin decline with regard to sex in all groups. Conclusion The addition of oral vitamin E 25 mg/kg/day to phototherapy in the treatment of indirect hyperbilirubinemia is better than oral vitamin E 50 mg/kg/day or phototherapy alone.

Effect of ursodeoxycholic acid on indirect hyperbilirubinemia in neonates treated with phototherapy

Objective The aim was to evaluate the role of ursodeoxycholic acid (UDCA) on neonatal indirect hyperbilirubinemia treated with phototherapy. Background Hyperbilirubinemia is a common neonatal problem. The present study aimed to investigate the role of UDCA on neonatal hyperbilirubinemia treated with phototherapy. Participants and methods This randomized controlled clinical trial was conducted on 100 full-term neonates with unconjugated hyperbilirubinemia, who received phototherapy in the neonatal ICU of Menoufia University Hospital, and they were randomly divided into two groups: group 1, which is the case group (n = 50), received ursofalk (250 mg capsule) in dose of 10 mg/kg/day divided every 12 h with phototherapy, and group 2, which was the control group (n = 50), received only phototherapy. Total serum bilirubin levels measured every 24 h till phototherapy were disrupted. The duration of phototherapy was measured. Results The mean total bilirubin level measured at 24, 48, 72, and 96 h of treatment in group I was 13.6 ± 1.47, 10.9 ± 1.19, 9.13 ± 0.74, and 7.00 ± 0.14, respectively, and in group II was 14.5 ± 1.63 at 24 h, 12.2 ± 2.34 at 48 h, 10.5 ± 1.35 at 72 h, and 9.42 ± 0.82 at 96 h. Moreover, the mean duration of phototherapy was 65.2 ± 12.8 h in group I and was 82.5 ± 19.4 h in group II, showing high significant reduction in group I (P Conclusion Addition of oral UDCA to phototherapy in treatment of indirect hyperbilirubinemia will be highly effective and the duration of phototherapy and admission of affected newborns will be shorter.

Indirect neonatal hyperbilirubinemia in hospitalized neonates on the Thai-Myanmar border: a review of neonatal medical records from 2009 to 2014

BackgroundIndirect neonatal hyperbilirubinemia (INH) is a common neonatal disorder worldwide which can remain benign if prompt management is available. However there is a higher morbidity and mortality risk in settings with limited access to diagnosis and care. The manuscript describes the characteristics of neonates with INH, the burden of severe INH and identifies factors associated with severity in a resource-constrained setting.MethodsWe conducted a retrospective evaluation of anonymized records of neonates hospitalized on the Thai-Myanmar border. INH was defined according to the National Institute for Health and Care Excellence guidelines as ‘moderate’ if at least one serum bilirubin (SBR) value exceeded the phototherapy threshold and as ‘severe’ if above the exchange transfusion threshold.ResultsOut of 2980 records reviewed, 1580 (53%) had INH within the first 14 days of life. INH was moderate in 87% (1368/1580) and severe in 13% (212/1580). From 2009 to 2011, the proportion of severe INH decreased from 37 to 15% and the mortality dropped from 10% (8/82) to 2% (7/449) coinciding with the implementation of standardized guidelines and light-emitting diode (LED) phototherapy. Severe INH was associated with: prematurity (< 32 weeks, Adjusted Odds Ratio (AOR) 3.3; 95% CI 1.6–6.6 and 32 to 37 weeks, AOR 2.2; 95% CI 1.6–3.1), Glucose-6-phosphate dehydrogenase deficiency (G6PD) (AOR 2.3; 95% CI 1.6–3.3), potential ABO incompatibility (AOR 1.5; 95% CI 1.0–2.2) and late presentation (AOR 1.8; 95% CI 1.3–2.6). The risk of developing severe INH and INH-related mortality significantly increased with each additional risk factor.ConclusionINH is an important cause of neonatal hospitalization on the Thai-Myanmar border. Risk factors for severity were similar to previous reports from Asia. Implementing standardized guidelines and appropriate treatment was successful in reducing mortality and severity. Accessing to basic neonatal care including SBR testing, LED phototherapy and G6PD screening can contribute to improve neonatal outcomes.

Correlation between serum vitamin D level and neonatal indirect hyperbilirubinemia

BackgroundConsidering the significant prevalence of Neonatal Indirect Hyperbilirubinemia (NIH) and its irreversible neurological complications, identifying the factors involved in the prevalence of neonatal jaundice is essential. The present study was conducted to determine the relationship between serum vitamin D levels and the prevalence of NIH in infants admitted to Qods Hospital of Qazvin in Iran in 2015–16.MethodsIn this case-control study, 30 term infants with NIH (the case group) were compared with 30 healthy, non- icteric, term infants (the control group) in terms of serum levels of 25-hydroxyvitamin D. The results were analyzed and compared between the two groups using t-test and the Chi-square test.ResultsThe mean and standard deviation of serum 25-hydroxyvitamin D levels were 10.76 ± 8.6 ng/dl in the case group and 14.88 ± 11.38 ng/dl in the control group. There were no significant differences between the two groups (P = 0.11).ConclusionThe results suggest the lack of a relationship between vitamin D levels and NIH. However, further prospective studies are needed to conclude that vitamin D has no role in the pathogenesis of NIH.

Sodium taurocholate cotransporting polypeptide (NTCP) deficiency: Identification of a novel SLC10A1 mutation in two unrelated infants presenting with neonatal indirect hyperbilirubinemia and remarkable hypercholanemia.

Sodium taurocholate cotransporting polypeptide (NTCP) is encoded by the gene SLC10A1 and expressed in the basolateral membrane of the hepatocyte, functioning to uptake bile acids from plasma. Although SLC10A1 has been cloned and NTCP function studied intensively for years, clinical description of NTCP deficiency remains rather limited. This study reported the genotypic and phenotypic features of two neonatal patients with NTCP deficiency. They both presented with neonatal indirect hyperbilirubinemia and remarkable hypercholanemia, and harbored the SLC10A1 variants c.800C>T (p.S267F) and c.263T>C (p.I88T). On genetic analysis of the two family trios, the latter missense variant was detected in trans with the former, a reported loss-of-function variant. Having not been reported in any databases, the c.263T>C (p.I88T) variant demonstrated an allele frequency of 0.67% (1/150) in healthy controls. Moreover, this variant involved a relatively conservative amino acid, and was predicted to be pathogenic or deleterious by changing the conformation of the NTCP molecule. In conclusion, the novel variant c.263T>C (p.I88T) in this study enriched the SLC10A1 mutation spectrum; the clinical findings lent support to the primary role of NTCP in hepatic bile acid clearance, and suggested that NTCP deficiency might be a contributing factor for the development of neonatal indirect hyperbilirubinemia.

Neonatal indirect hyperbilirubinemia and glucose-6-phosphate dehydrogenase deficiency.

PurposeThis 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.MethodsThis 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.ResultsOf 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).ConclusionG6PD deficiency is an important risk factor for severe NIH. In G6PD-deficent neonates, management of NIH should be hastened to avoid irreversible neurological complications.

Case-controlled study on indirect hyperbilirubinemia in exclusively breast fed neonates and mutations of the bilirubin Uridine Diphosphate-Glucuronyl transferase gene 1A1.

ObjectiveThis study aims to investigate the association of neonatal indirect hyperbilirubinemia in exclusively breast-fed infants with UGT1A1 (Uridine Diphosphate-Glucuronyl transferase 1A1) polymorphism.Methods50 neonates were classified into 2 groups: 1) 30 full term neonates with indirect hyperbilirubinemia (gestational age (GA) 39.5 ± 1.2 weeks); 2) 20 apparently healthy full-term neonates. Group 1 was further subdivided based on percentage of body weight lost: (A) less than 10%; (B) 10% or more.ResultsThere was a statistically significant decrease in weight at sample collection and significant increase in indirect bilirubin level in patients group compared to control group, there was statistically significant difference as regard to genotype frequency [G/G, G/A, A/A], and allele frequency (A,G) between patients and control group. There was statistically significant increase in indirect bilirubin level in G/A – A/A genotypes. By comparing subgroup (A) and subgroup (B), there was statistically significant increase in total bilirubin level in subgroup (B). There was statistically high significant difference regarding genotype frequency (G/G, G/A, A/A) and allele frequency (G, A) between subgroup A and B. Multiple stepwise regression analysis was done using hyperbilirubinemia as a dependent factor and body weight loss, genotype (G/A) and allele (A) as independent factors. Body weight loss, genotype (G/A) and allele (A) was found to be significant independent predictors for hyperbilirubinemia.ConclusionThe results of the present study revealed that UGT1A1 polymorphism can be used as a novel predictor for neonatal hyperbilirubinemia in breast fed full term neonates.

Semi-Quantitative Analysis of Brain MR Imaging in 76 Cases of Neonatal Indirect Hyperbilirubinemia

Background: Neonatal hyperbilirubinemia is indeed common. However, severe nerve injuries and bilirubin encephalopathy are rare and only occur in the unusual cases of extreme hyperbilirubinemia. Objectives: To investigate brain magnetic resonance imaging (MRI) changes and their correlations with perinatal predisposing factors in neonates with indirect hyperbilirubinemia, via regions of interest (ROIs) analysis. Methods: Seventy-six neonates with a gestational age of ≥35 weeks diagnosed with neonatal indirect hyperbilirubinemia or bilirubin encephalopathy all underwent brain MRI during hospitalization. Depending on peak total serum bilirubin (TSB), they were assigned to group A ( μmol/L), C (≥42 μmol/L μmol/L), or D (≥428 μmol/L). The globus pallidus and the white matter around the anterior horn of the lateral ventricle and posterior horn of the lateral ventricle were selected as the ROIs. Average optical densities (AODs) of the ROIs and the cerebrospinal fluid region were measured. The ratio between the AODs was designated as the relative optical density (ROD), and used to determine relative signal intensity. Results: RODs of the globus pallidus were significantly lower in group D than in all other groups. TSB and the ratio of TSB to serum albumin concentration (B/A) was significantly negatively correlated with ROD in theglobus pallidus. Corrected age was significantly negatively correlated with the ROD of the ROIs. Conclusions: Semi-quantitative image analysis is a feasible method to assess conventional brain MRI for neonatal indirect hyperbilirubinemia. The signal intensity of the globus pallidus in T1-weighted images was significantly correlated with TSB level and B/A.

Effect of Ursodeoxycholic Acid on Indirect Hyperbilirubinemia in Neonates Treated With Phototherapy.

Hyperbilirubinemia is a common neonatal problem. The present study aimed to investigate the effect of ursodeoxycholic acid in reducing indirect hyperbilirubinemia of infants under phototherapy. This double-blind randomized clinical trial was conducted on neonates with jaundice, who had received phototherapy in the hospitals affiliated with the Shiraz University of Medical Sciences in 2013. A total of 80 neonates were enrolled in the study and were randomly divided into 2 groups. The intervention group (n = 0) with indirect hyperbilirubinemia received 10 mg · kg(-1) · day(-1) divided every 12 hours Ursobil (capsule 300 mg) in addition to phototherapy, whereas the control group (n = 0) received only phototherapy. Total bilirubin levels were measured every 12 hours until reaching <10 mg/dL, and then phototherapy was disrupted. The duration of phototherapy was measured. The 2 groups were compared regarding total bilirubin levels at different time points and duration of phototherapy using the generalized estimating equation (GEE) test. The mean of total bilirubin in the intervention group was 12 ± 1.6, 10 ± 1.1, and 9.8 ± 0.2 mg/dL 12, 24, and 48 hours after the beginning of phototherapy, respectively. On the contrary, these measures were 14.4 ± 1.3, 12.5 ± 1.4, and 10.1 ± 1.1 mg/dL in the control group, respectively, (P < 0.05). The mean time required for phototherapy to decrease the bilirubin level to < 10 mg/dL was 15.5 ± 6 and 44.6 ± 13.3 hours in the case and the control group, respectively, (P = 0.001). Ursodeoxycholic acid had additive effect with phototherapy in neonates with indirect hyperbilirubinemia. This drug also reduced the time period needed for phototherapy and, consequently, decreased the hospitalization period.

Effect of fenofibrate on indirect neonatal hyperbilirubinemia

Background: Neonatal jaundice is a cause for anxiety in parents as well as physicians due to its complications and prolonged hospital stay with increased cost. With early discharge practice, neonatal hyperbilirubinemia has become an important cause for readmission. Aim: The aim of this study is to evaluate the efficacy of oral fenofibrate in the treatment of neonatal hyperbilirubinemia in full term (FT) neonates due to ABO or Rh incompatibility. Design: The type of the study is prospective case control study. Patients and Methods: This study was carried out on 60 FT newborns suffering from neonatal hyperbilirubinemia due to ABO or Rh incompatibility and exaggerated physiological jaundice divided into two groups. Group A (control group): This group included 30 FT neonates with neonatal hyperbilirubinemia 19 males and 11 females. Their duration of stay ranged from 4 to 7 days. All the neonates in this group received phototherapy only. Group B (fenofibrate group): This group included 30 FT neonates with neonatal hyperbilirubinemia 20 males and 10 females. Their postnatal age ranged from day 1 to day 6. Their duration of stay ranged from 4 to 7 days. All the neonates in this group received one single oral dose of fenofibrate suspension with a dose 10 mg/kg beside phototherapy. Results: In our study, there was a statistically significant difference between the two groups (fenofibrate group vs. control group) as regard the response of babies to decrease the level of total serum bilirubin (TSB) and the duration of stay on phototherapy in hospital lower in fenofibrate group. We found that babies in fenofibrate group showed lower values in successive TSB levels and lower duration of stay in comparison to the control group. We studied the highest level of TSB reached during treatment and found that mean TSB of fenofibrate group was 15.797 mg/dl while mean TSB of the control group was 16.593 mg/dl. In our study, we found that the mean duration of stay at the hospital of fenofibrate group was 4.366 days, while mean duration of stay at the hospital of the control group was 5.633 days (P = 0.0058*). Conclusion: The use of a single oral dose of fenofibrate (with a dose 10 mg/kg) with phototherapy accelerates bilirubin conjugation and excretion via induction of glucuronyl transferase activity hence reduces the duration of stay in hospital.

Effect of phototherapy on serum calcium level in neonatal jaundice

Objectives The aim of the study was to determine the effect of phototherapy on serum calcium level in neonatal jaundice. Background Phototherapy plays a significant role in the treatment and prevention of hyperbilirubinemia in neonates. However, this treatment modality may result in the development of some complications such as induction of hypocalcemia. Patients and methods This study included 50 full-term neonates with jaundice (25 males and 25 females) who received phototherapy for treatment of neonatal indirect hyperbilirubinemia and 25 neonates (13 males and 12 females) complaining of exaggerated physiological hyperbilirubinemia taken as control not exposed to phototherapy. Serum calcium was checked before and 48 h after starting phototherapy. A comparative study was conducted between these groups to determine the effect of phototherapy on serum calcium level. Results In the neonates of the study group, the serum bilirubin level before phototherapy was 15.48 ± 1.94 mg/dl. However, the serum bilirubin level after phototherapy was 12.41 ± 2.10 mg/dl. There was highly statistically significant decrease of the serum bilirubin levels after phototherapy as compared with serum bilirubin levels before phototherapy in the study group (P Conclusion Hypocalcemia is a common complication of phototherapy.

Evaluation of Pattern and Risk Factors of Indirect Neonatal Hyperbilirubinemia at Benghazi Children Hospital in 2013

Evaluation of Pattern and Risk Factors of Indirect Neonatal Hyperbilirubinemia at Benghazi Children Hospital in 2013

PO-0610 Neonatal Readmission For Indirect Hyperbilirubinemia In Al Ahsa, Saudi Arabia

Background Causes and severity of neonatal indirect hyperbilirubinemia (IH) vary geographically. Understanding local differences may assist in prevention of complications. Objective To study the causes and severity of IH in readmitted neonates in Al Ahsa district. Methods Records of all neonates readmitted for IH to Almana General Hospital at Al Ahsa between 2009 and 2013 were reviewed. Data included: maternal and neonatal characteristics, laboratory results, associated causes of IH and interventions. Results 323 neonates were readmitted for IH (gestational age: 38 ± 1.8 weeks, birth weight: 3023 ± 513 g and males: 66%). The age and weight at readmission were 125 ± 770 h and 2923 ± 508 g respectively. History of previous jaundiced sibling was documented in 15%. The most common cause for IH was G6 PD deficiency (39.9%), followed by ABO incompatibility (12%) and breast milk jaundice (11%). The cause could not be determined in 31%. Based on 2004-AAP phototherapy guideline, 30% infants were categorised as at lower risk, 58% at medium and 14% at higher risk. The highest serum bilirubin during readmission was 322 ± 59 µmol/L (range:198–686 µmol/L). All infants received phototherapy, and 2 required blood exchange transfusions. One case of kernicterus was documented (highest serum bilirubin: 686 µmol/L) with no mortality. The median length of hospital stay was 2 days. 25(7.7%) required more than one admission. Conclusions In Al Ahsa, the commonest cause of neonatal indirect hyperbilirubinemia is G6 PD deficiency. Screening for G6 PD deficiency and close postnatal follow up are recommended.

Urinary tract infections in neonates with jaundice in their first two weeks of life

Hyperbilirubinemia is a frequently seen condition in neonates. This study was undertaken to determine the role of urinary tract infections (UTIs) in the etiology of indirect hyperbilirubinemia in neonates with jaundice in their first two weeks of life. The study was conducted prospectively. The subjects were neonates aged 4-14 days with hyperbilirubinemia which could not be detected by routine tests and was sufficiently severe to necessitate phototherapy. The study was performed in 104 neonates, of whom 18% (n=19) had UTI. The most frequently identified micro-organism was Escherichia coli (43%). Phototherapy duration and rebound bilirubin level were higher in neonates with UTI (P<0.05). UTI should be investigated in neonates with hyperbilirubinemia of unknown etiology in the first two weeks of life.

Correlation between risk factors during the neonatal period and appearance of retinopathy of prematurity in preterm infants in neonatal intensive care units in Alexandria, Egypt.

BackgroundThis study aimed to identify the main risk factors for development of retinopathy of prematurity (ROP) in neonatal intensive care units in Alexandria, Egypt, from January 2010 to January 2012.MethodsA prospective cohort study was undertaken in infants weighing < 1250 g and maternal postmenstrual age < 32 weeks if there was concern about prolonged exposure to oxygen. The main clinical outcomes were occurrence of any stage of ROP and in particular severe ROP. Perinatal variables considered were: birth weight, gestational age, gender, method of ventilation (nasal continuous airway pressure or intermittent mechanical ventilation), packed red blood cell and/or plasma transfusion, occurrence of sepsis, neonatal indirect hyperbilirubinemia, intraventricular hemorrhage, and patent ductus arteriosus. After obtaining informed consent from the parents, infants at risk were examined for ROP using indirect ophthalmoscopy, ie, RetCam II fundus photography.ResultsThe study included 152 infants of mean gestational age 31.02 weeks and mean birth weight 1.229 kg. Seventy-two cases (47.5%) were male and 80 cases (52.5%) were female. Of the cases screened, 100 (65.6%) had no ROP, 52 had ROP of any stage (34.4%), and 27 (18%) had stage 1, five (3.3%) had stage 2, 17 (11.5%) had stage 3, and three (1.6%) had stage 4 disease. No infants had stage 5 ROP. Of all our cases with ROP, 15 (28.6%) had prethreshold disease type 1 that required treatment, comprising 9.8% of all cases screened for ROP. Using stepwise logistic regression analysis, all risk factors studied were found to be significantly associated with the development of ROP, except for neonatal indirect hyperbilirubinemia. Severity of ROP was inversely proportional to birth weight and gestational age.ConclusionROP occurred in 34.4% of all infants screened in the neonatal intensive care units at three obstetric hospitals in Alexandria. The main risk factors for development of threshold ROP by regression analysis were low birth weight, gestational age, method of ventilation, need for packed red blood cell and/or plasma transfusion, occurrence of sepsis, intraventricular hemorrhage, and patent ductus arteriosus but not neonatal indirect hyperbilirubinemia. We suggest that both immaturity and compromised pulmonary function are both important etiological factors in the development of ROP.

897 Role of Urinary Tract Infections in Neonatal Indirect Hyperbilirubinemia

Urinary infections are an important cause of prolonged jaundice. But there is conflict about the role of the urinary infections on the pathological jaundice in the first 14 days of...

Effectiveness of single and double phototherapy on indirect hyperbilirubinemia in neonates

Background Hyperbilirubinemia is a common problem in full term newborns and phototherapy is the most widespread treatment for lowering bilirubin concentration in neonates. Double phototherapy could increase the effectiveness of treatment.Objective To compare the effectiveness of single and double phototherapy and increasing spectral irradiance for decreasing serum bilirubin levels in neonates for indirect hyperbilirubinemia.Methods An open, randomized, controlled trial was conducted at H. Adam Malik and Pirngadi Hospitals, Medan, from May to December 2009. Subjects were divided into two groups, those who received single phototherapy (n=30) and those who received double phototherapy (n=30) treatments. We included term newborns with neonatal jaundice in the first week of life. Serum bilirubin and average spectral irradiation levels were measured at baseline and after 12 hours and 24 hours of phototherapy treatment.Results The mean total bilirubin levels of the single and double phototherapy groups at the beginning of therapy were 17.6 mg/dL (SD1.41) and 17.5 mg/dL (SD 1.32), respectively, with no significant difference between values. During the study period the sum of average spectral irradiance by double phototherapy was significantly higher than that of single phototherapy (P &lt; 0.05). A significantly greater decrease in bilirubin levels was observed in the double phototherapy group at 12 hours and 24 hours of phototherapy compared to the single phototherapy group (P = 0.001).Conclusion Double phototherapy is more effective than single phototherapy in reducing bilirubin levels in jaundiced newborns.

Screening for G71R mutation of the UDP-glucuronosyltransferase 1 (UGT1A1) gene in neonates with pathologic and prolonged hyperbilirubinemia in Turkey

Whether the G71R mutation contributes to the high incidence of neonatal indirect hyperbilirubinemia in Turkey remains unknown. In this study we screened for G71R mutation of the UGT1A1 gene in prolonged and pathological hyperbilirubinemia with unexplained etiology in newborns in Turkey. In this study, we screened the G71R mutation of the UGT1A1 gene in 70 Turkish newborn infants: 23 infants with pathologic hyperbilirubinemia, 24 infants with prolonged hyperbilirubinemia and 23 infants without pathologic and prolonged hyperbilirubinemia. Mutations were detected by non-radioactive dye terminator cycle sequencing. In these seventy infants enrolled in this study, there were 62 with G/G (88.5 %), 8 with G/R (11.5%), and none with R/R. Two (8.7%) infants in the pathologic jaundice group and 5 (20.8 %) infants in the prolonged indirect hyperbilirubinemia, one (4.3%) infant in the control group had G/R genotype. Although G/R mutation is higher in the prolonged indirect hyperbilirubinemia group, genotypic distributions among the three groups were not statistically significant. The allele frequency of the G71R mutation was found 4.3%, 10.4%, and 2.2% in the pathologic jaundice group, in the prolonged indirect hyperbilirubinemia group, and in the control group respectively. When we compared the peak serum total bilirubin concentrations of neonates according to their genotypes, the peak bilirubin concentration was higher in G/R genotype than G/G genotype. G71R mutation of UGT1A1 gene is also present in Turkish population and the presence of this mutation is associated with otherwise unexplained pathological or prolonged neonatal hyperbilirubinemia in a Turkish population.

Neurodevelopmental disorder risk in babies with history of hyperbilirubinemia

Background Neurodevelopmental disorder (ND) is defined asfailure to attain normal neurological function. Indirect bilirubinhas essential role because its neurotoxic properties. Neonates withhyperbilirubinemia carry the risk to develop ND.Objective To determine the association between neonatal indirecthyperbilirubinemia and the risk of ND.Methods Neonates with indirect serum bilirubin (SIB) level &gt;10mg/dL, admitted in the period of October 2004-August 2005, wereincluded in this study. They were followed-up and screened usingBayley Infant Neurodevelopmental Screener (BINS) at three, sixand nine months. Mann-Whitney test was used to test thehypothesis.Results Forty-eight neonates were included in the study. MeanSIB level of subjects with ND risk was 20.5 mg/dL (SD=6.06;p&lt;0.001). Mean SIB level of subjects who developed ND at three,six and nine months was 31.6 mg/dL (SD=4.02), 18.4 mg/dL(SD=2.92) and 18.4 mg/dL (SD=5.41), respectively. There wasstatistically significant correlation between SIB level and NDrisk (R=+0.64; P&lt;0.001). There was also statistically significantcorrelation between SIB level and the onset of ND (R=-0.63;P&lt; 0.001).Conclusion There is a correlation between neonatal SIB leveland the risk of ND in babies.

Glucose-6-phosphate Dehydrogenase Deficiency in Neonatal Indirect Hyperbilirubinemia

The aim of this article is to investigate the prevalence of Glucose-6-phosphate dehydrogenase (G6PD) deficiency in neonatal hyperbilirubinemia and to compare the clinical presentation and course of G6PD-deficient and normal patients. This study included a total of 624 term neonates with indirect hyperbilirubinemia from March 2001 to September 2004. Birth weight, sex, weight at admission, serum bilirubin at admission, maximum bilirubin, phototherapy duration, duration of hospitalization and the need for exchange transfusion were recorded. Laboratory evaluations included blood group typing of mother and newborn, complete blood count, peripheral blood smear, serum total and direct bilirubin, direct coombs test, reticulocyte count, serum-free T4 and TSH, urine analysis, urinary reducing substance and erythrocyte G6PD level. The analysis of the results indicated that 24 neonates with indirect hyperbilirubinemia were G6PD-deficient. No statistically significant difference was detected between G6PD-deficient and normal groups in relation to the time of onset of jaundice, reticulocyte count, hematocrit level, phototherapy duration and duration of hospitalization. Serum bilirubin at admission, maximum serum bilirubin level and the need for exchange transfusion were higher in G6PD-deficient group. From this study our conclusion is that the G6PD deficiency is a common enzyme defect causing severe indirect hyperbilirubinemia which may result in kernicterus. Early neonatal screening programmes should be instituted in countries where the deficiency is prevalent.