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2020 Vol.  22 No.  3
Published: 2020-03-25

A TOPIC OF CHILDHOOD NOVEL CORONAVIRUS INFECTION
CLINICAL RESEARCH
REVIEW
A TOPIC OF CHILDHOOD NOVEL CORONAVIRUS INFECTION
177 Subspecialty Group of Hematology and Oncology, Society of Pediatrics of Hubei
Standardized management guideline for pediatric wards of hematology and oncology during the epidemic of coronavirus disease 2019

With the spread of coronavirus disease 2019 (COVID-19) and growing knowledge of its diagnosis and treatment, it has been clear that children are also susceptible to severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). The children with hematological tumors are a special population with immunosuppression and special therapeutic characteristics. Here the management guideline for pediatric wards of hematology and oncology during COVID-19 epidemic is established based on the features of children with hematological tumors.

2020 Vol. 22 (3): 177-182 [Abstract] ( 6704 ) [HTML 1KB] [PDF 1318KB] ( 1761 )
183 Giuseppe A Marraro, Claudio Spada
Consideration of the respiratory support strategy of severe acute respiratory failure caused by SARS-CoV-2 infection in children

The recent ongoing outbreak of severe pneumonia associated with a novel coronavirus (SARS-CoV-2), currently of unknown origin, creates a world emergency that has put global public health institutions on high alert. At present there is limited clinical information of the SARS-CoV-2 and there is no specific treatment recommended, although technical guidances and suggestions have been developed and will continue to be updated as additional information becomes available. Preventive treatment has an important role to control and avoid the spread of severe respiratory disease, but often is difficult to obtain and sometimes cannot be effective to reduce the risk of deterioration of the underlining lung pathology. In order to define an effective and safe treatment for SARS-CoV-2-associated disease, we provide considerations on the actual treatments, on how to avoid complications and the undesirable side effects related to them and to select and apply earlier the most appropriate treatment. Approaching to treat severe respiratory disease in infants and children, the risks related to the development of atelectasis starting invasive or non-invasive ventilation support and the risk of oxygen toxicity must be taken into serious consideration. For an appropriate and effective approach to treat severe pediatric respiratory diseases, two main different strategies can be proposed according to the stage and severity of the patient conditions:patient in the initial phase and with non-severe lung pathology and patient with severe initial respiratory impairment and/or with delay in arrival to observation. The final outcome is strictly connected with the ability to apply an appropriate treatment early and to reduce all the complications that can arise during the intensive care admission.

2020 Vol. 22 (3): 183-194 [Abstract] ( 5800 ) [HTML 1KB] [PDF 1107KB] ( 2874 )
195 Working Group for the Prevention and Control of Neonatal SARS-CoV-2 Infection in the Perinatal Period of the Editorial Committee of Chinese Journal of Contemporary Pediatrics
Perinatal and neonatal management plan for prevention and control of SARS-CoV-2 infection (2nd Edition)

Since late December 2019, SARS-CoV-2 infection has spread to all parts of the country and overseas, and the outbreak continues. At the end of January 2020, the Working Group for the Prevention and Control of Neonatal SARSCoV-2 Infection in the Perinatal Period of the Editorial Committee of Chinese Journal of Contemporary Pediatrics worked out the perinatal and neonatal management plan for prevention and control of SARS-CoV-2 infection (1st Edition). This plan has been verified by clinical practice for 3 weeks. With the further understanding of SARS-CoV-2 infection, especially the emergence of SARS-CoV-2 infection cases in pregnant women and neonates, it is necessary to update the first edition of the management plan so as to offer a better guide on clinical practice. Therefore, the Working Group has worked out the second edition of the management plan.

2020 Vol. 22 (3): 195-198 [Abstract] ( 5426 ) [HTML 1KB] [PDF 1064KB] ( 1806 )
199 WANG Lai-Shuan, HU Xiao-Jing, ZHOU Wen-Hao
An interpretation on perinatal and neonatal management plan for prevention and control of SARS-CoV-2 infection (2nd Edition) Hot!

The epidemic of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection continues so far. The cases of SARS-CoV-2 infection have been reported in pregnant women and neonates as special groups. Perinatal and neonatal management plan for prevention and control of SARS-CoV-2 infection (2nd Edition) has been worked out by the Editorial Committee of Chinese Journal of Contemporary Pediatrics. This paper presents an interpretation on the 2nd Edition of the management plan, so as to facilitate readers to better understand it.

2020 Vol. 22 (3): 199-204 [Abstract] ( 5007 ) [HTML 1KB] [PDF 1113KB] ( 1754 )
205 Medical Association of Chinese People's Liberation Army; Editorial Committee of Chinese Journal of Contemporary Pediatrics; Preparatory Group of Pediatric Disaster, Pediatric Society, Chinese Medical Association
Response plan in the neonatal intensive care unit during epidemic of SARS-CoV-2 infection (2nd Edition)

Since December 2019, an outbreak of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection has spread from China to other countries. In order to effectively respond to possible neonatal SARS-CoV-2 infection, neonatologists from the Medical Association of Chinese People's Liberation Army and the Editorial Committee of Chinese Journal of Contemporary Pediatrics proposed the response plan in the neonatal intensive care unit during epidemic of SARS-CoV-2 infection (1st edition) at the end of January of 2020. Based on the further knowledge and experience on SARS-CoV-2 infection, the neonatologists updated the plan according to the current evidence, so as to provide a better guide for clinical medical staff to deal with the SARS-CoV-2 infection in the NICU.

2020 Vol. 22 (3): 205-210 [Abstract] ( 4498 ) [HTML 1KB] [PDF 1263KB] ( 1098 )
211 WANG Jin, WANG Dan, CHEN Guo-Ce, TAO Xu-Wei, ZENG Ling-Kong
SARS-CoV-2 infection with gastrointestinal symptoms as the first manifestation in a neonate

Since December 2019, the outbreak of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection has occurred in Wuhan, Hubei Province, China. The infected cases were noted mostly in adults, but rarely reported in children, especially neonates. Most children with SARS-CoV-2 infection present mainly with respiratory symptoms, but less commonly with gastrointestinal symptoms, and tend to have mild clinical symptoms. A neonate with SARS-CoV-2 infection, who had vomiting and milk refusal as the first symptom, was recently admitted to Wuhan Children's Hospital. After two weeks of treatment, the patient recovered gradually and was discharged. Here, this case is reported to improve the understanding of SARS-CoV-2 infection in neonates.

2020 Vol. 22 (3): 211-214 [Abstract] ( 8305 ) [HTML 1KB] [PDF 1780KB] ( 2573 )
215 ZHOU Yun, YANG Gen-Dong, FENG Kai, HUANG Hua, YUN Yong-Xing, MOU Xin-Yan, WANG Li-Fei
Clinical features and chest CT findings of coronavirus disease 2019 in infants and young children

Objective To study the clinical features and chest CT findings of coronavirus disease 2019 (COVID-19) in infants and young children. Methods A retrospective analysis was performed for the clinical data and chest CT images of 9 children, aged 0 to 3 years, who were diagnosed with COVID-19 by nucleic acid detection between January 20 and February 10, 2020. Results All 9 children had an epidemiological history, and family clustering was observed for all infected children. Among the 9 children with COVID-19, 5 had no symptoms, 4 had fever, 2 had cough, and 1 had rhinorrhea. There were only symptoms of the respiratory system. Laboratory examination showed no reductions in leukocyte or lymphocyte count. Among the 9 children, 6 had an increase in lymphocyte count and 2 had an increase in leukocyte count. CT examination showed that among the 9 children, 8 had pulmonary inflammation located below the pleura or near the interlobar fissure and 3 had lesions distributed along the bronchovascular bundles. As for the morphology of the lesions, 6 had nodular lesions and 7 had patchy lesions; ground glass opacity with consolidation was observed in 6 children, among whom 3 had halo sign, and there was no typical paving stone sign. Conclusions Infants and young children with COVID-19 tend to have mild clinical symptoms and imaging findings not as typical as those of adults, and therefore, the diagnosis of COVID-19 should be made based on imaging findings along with epidemiological history and nucleic acid detection. Chest CT has guiding significance for the early diagnosis of asymptomatic children.

2020 Vol. 22 (3): 215-220 [Abstract] ( 8030 ) [HTML 1KB] [PDF 1597KB] ( 2982 )
221 ZHANG Guo-Xun, ZHANG Ai-Min, HUANG Li, CHENG Lian-Ying, LIU Zhi-Xian, PENG Xiu-Lan, WANG Hui-Wu
Twin girls infected with SARS-CoV-2

This article reports the diagnosis and treatment of twin girls who were diagnosed with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection in Hunan Province, China. The twin girls, aged 1 year and 2 months, were admitted on January 29, 2020 due to fever for one day and cough and sneezing for two days respectively. Both recovered after symptomatic treatment. The two girls had mild symptoms and rapid recovery, suggesting that children with SARS-CoV-2 infection may be mild and have a good prognosis. There were differences in the clinical symptoms and imaging findings between the twin girls, suggesting that SARS-CoV-2 infection has diverse clinical features in children.

2020 Vol. 22 (3): 221-225 [Abstract] ( 4867 ) [HTML 1KB] [PDF 1459KB] ( 1473 )
226 CHEN Zheng, DU Li-Zhong, FU Jun-Fen, SHU Qiang, CHEN Zhi-Min, SHI Li-Ping, WANG Wei, CHEN Shuo-Hui, MA Xiao-Lu, YE Sheng, SUN Wei, CHEN Ming-Yan, ZHU Hai-Hong, HUANG Guo-Lan, LUO Fei-Xiang
Emergency plan for inter-hospital transfer of newborns with SARS-CoV-2 infection

Since December 2019, the outbreak of coronavirus disease (COVID-19) has become the most serious public health issue. As the special population with immature immune function, newborns with COVID-19 have been reported. Newborns with suspected or confirmed COVID-19 should be transferred to designated hospitals for isolation treatment. An emergency transfer response plan for newborns with COVID-19 has been worked out. This plan puts forward the indications for neonatal COVID-19 transfer, organization management, protection strategies for medical staff, work procedures, and disinfection methods for transfer equipment, in order to provide guidance and suggestions for the inter-hospital transfer of suspected or confirmed neonatal COVID-19.

2020 Vol. 22 (3): 226-230 [Abstract] ( 4814 ) [HTML 1KB] [PDF 1588KB] ( 1782 )
CLINICAL RESEARCH
231 LIU Hui-Qiang, TONG Xiao-Mei, HAN Tong-Yan, ZHANG Hui, GUO Ming, ZHANG Xue-Feng, LIU Xin-Jian, ZHANG Xiang, ZHANG Ming-Tao, LIU Fang, BAO Li-Sha, ZHENG Jun, TIAN Xiu-Ying, GAO Qi, ZHANG Wan-Xian, DUAN Yang, SUN Fu-Qiang, GUO Wei, LI Ling, XIAO Min, LIU Wei-Li, JIANG Rui
Risk factors for minimally invasive surfactant administration failure in preterm infants with respiratory distress syndrome

Objective To identify risk factors for minimally invasive surfactant administration (MISA) failure in the treatment of preterm infants with respiratory distress syndrome (RDS) and the influence of MISA failure on neonatal outcome. Methods A retrospective analysis was performed for the clinical data of 148 preterm infants with a gestational age of ≤ 32 weeks and a clinical diagnosis of RDS, who were admitted to the neonatal intensive care unit of eight tertiary hospitals in Beijing, Tianjin and Hebei Province from July 1, 2017 to December 31, 2018 and were treated with MISA (bovine pulmonary surfactant, PS). According to whether MISA failure (defined as the need for mechanical ventilation within 72 hours after MISA) was observed, the infants were divided into two groups:MISA failure group (n=16) and MISA success (n=132). A logistic regression analysis was used to investigate the risk factors for MISA failure and its influence on neonatal outcome. Results The MISA failure rate was 10.8% (16/148). The logistic regression analysis showed that a high incidence rate of grade > II RDS before PS administration, low mean arterial pressure and high pulse pressure before administration, a low dose of initial PS administration, and long injection time and operation time were the risk factors for MISA failure (OR=5.983, 1.210, 1.183, 1.055, 1.036, and 1.058 respectively, P < 0.05). After the control for the above risk factors, the logistic regression analysis showed that the MISA failure group had a significantly higher incidence rate of bronchopulmonary dysplasia (BPD) (OR=8.537, P < 0.05). Conclusions A high grade of RDS, a low mean arterial pressure, and a high pulse pressure before administration are independent risk factors for MISA failure, and a low dose of initial PS administration, a long injection time, and a long operation time may increase the risk of MISA failure. MISA failure may increase the incidence rate of BPD in preterm infants.

2020 Vol. 22 (3): 231-237 [Abstract] ( 3448 ) [HTML 1KB] [PDF 1437KB] ( 976 )
238 YANG Min, XIAO Ling-Ling, WANG Ji-Mei
Association between maternal age and adverse pregnancy outcome in twin pregnancy

Objective To study the association between maternal age and adverse pregnancy outcome in twin pregnancy. Methods The clinical data of 2 363 women with twin pregnancy from January 2006 to June 2016 were retrospectively reviewed. According to the age, the women were divided into six groups: < 20 years (n=15), 20-24 years (n=158), 25-29 years (n=894), 30-34 years (n=936), 35-39 years (n=320), and ≥ 40 years group (n=40). The above groups were compared in terms of related baseline features and incidence rates of adverse pregnancy outcomes (preterm birth, birth defect, stillbirth in late pregnancy and small-for-gestational-age birth). A generalized estimating equation was used to investigate the risk of adverse pregnancy outcomes in different age groups. Results After control for the factors including place of residence, primipara, pregnancy pattern, and gestational diseases, the incidence rates of very preterm birth and moderately preterm birth in the ≥ 40 years group were 2.60 and 1.99 times than those in the 25-29 years group respectively (P < 0.05). The incidence rates of very preterm birth and late preterm birth in the 20-24 years group were 1.99 and 1.33 times than those in the 25-29 years group respectively (P < 0.05). The incidence rates of stillbirth in late pregnancy in the < 20 years group, the 20-24 years group, and the ≥ 40 years group were 9.10, 2.88 and 3.97 times than those in the 25-29 years group respectively (P < 0.05). The incidence rates of small-for-gestational-age birth in the < 20 years group and the 35-39 years group were 2.70 and 0.73 times than those in the 25-29 years group respectively (P < 0.05). Conclusions In twin pregnancy, pregnant women, aged < 20 years, have a higher risk of smaller-for-gestational-age birth and stillbirth in late pregnancy, those aged ≥ 40 years have a higher risk of very preterm birth, moderately preterm birth and stillbirth in late pregnancy, and those aged 20-24 years have a higher risk of very preterm birth, late preterm birth and stillbirth in late pregnancy.

2020 Vol. 22 (3): 238-244 [Abstract] ( 3076 ) [HTML 1KB] [PDF 1577KB] ( 964 )
245 LI Min-Xu, DENG Hao-Hui, SU Jin-Zhen, RUAN Min-Yi, YANG Yong
Application of sustained lung inflation in preterm infants with a gestational age of < 34 weeks: a Meta analysis

Objective To systematically review the effect of sustained lung inflation (SLI) in preterm infants with a gestational age of < 34 weeks. Methods PubMed, Embase, Cochrane Library, China National Knowledge Infrastructure, Wanfang Database, China Biology Medicine disc, Chinese Journal Full-text Database, and Weipu Database were searched for randomized controlled trials (RCTs) on the application of SLI versus noninvasive positive pressure ventilation alone in preterm infants. Revman 5.3 was used to perform a Meta analysis for the RCTs which met the inclusion criteria. Results A total of 9 RCTs were included, with 1 432 preterm infants in total (with a gestational age of 23-33.7 weeks). The Meta analysis showed that compared with the control group, the SLI group had a significantly lower proportion of the infants who needed mechanical ventilation within 72 hours (51.9% vs 56.9%, RR=0.91, P=0.04, 95%CI:0.83-0.99). There were no significant differences between the two groups in the mortality rate, rate of use of pulmonary surfactant, and incidence rates of related complications (bronchopulmonary dysplasia, pneumothorax, and grade III-IV intracranial hemorrhage) (P > 0.05). Conclusions SLI can reduce the use of mechanical ventilation in preterm infants with a gestational age of < 34 weeks and does not increase the risk of other complications.

2020 Vol. 22 (3): 245-250 [Abstract] ( 2599 ) [HTML 1KB] [PDF 1500KB] ( 668 )
251 LI Ju, XU Jun, ZOU Chao-Chun, GU Jin-Ai, GU Hua-Lian
Association between CD40-CD40L system and obesity in children

Objective To study the association between CD40-CD40L system and obesity in children. Methods A total of 76 obese children were enrolled as the obese group, and 74 healthy children with normal body mass index (BMI) were enrolled as the control group. The two groups were compared in terms of morphological indices, biochemical parameters, and serum levels of CD40 and CD40L. Partial correlation analysis and multivariate linear regression analysis were performed to investigate the correlation of CD40 and CD40L with other clinical indices. Results Compared with the control group, the obese group had significantly higher BMI, waist circumference/height ratio, systolic pressure, diastolic pressure, alanine aminotransferase (ALT), aspartate aminotransferase (AST), uric acid, triglyceride, apolipoprotein B, fasting blood glucose, fasting insulin, glycosylated hemoglobin, platelet count, CD40L, and mean carotid intima-media thickness (P < 0.05), but significantly lower high-density lipoprotein cholesterol and apolipoprotein A1 (P < 0.05). With age and sex as the control factors, the partial correlation analysis showed that CD40L was positively correlated with height, weight, BMI, diastolic pressure, bile acid, triglyceride, total cholesterol, lowdensity lipoprotein cholesterol, apolipoprotein B, and platelet count (P < 0.05). CD40 was positively correlated with waist circumference/height ratio and platelet count (P < 0.05). The multivariate linear regression analysis showed that ALT, AST, total cholesterol, and platelet count were the dependent factors influencing the level of CD40L (R2=0.266, P < 0.05). Conclusions CD40-CD40L system is closely associated with obesity and related hyperlipidemia and hypertension. CD40 and CD40L may be used as new indicators for early warning of metabolic syndrome and provide new ideas for the prevention and treatment of related chronic diseases.

2020 Vol. 22 (3): 251-256 [Abstract] ( 3016 ) [HTML 1KB] [PDF 1484KB] ( 869 )
257 WANG Xia, HUANG Rong, ZHANG Guo-Yuan, HUANG Ye-Hong, ZHENG Xiang-Rong, LIU Chen-Tao
Clinical features of neuroendocrine cell hyperplasia of infancy

Objective To study the clinical features of neuroendocrine cell hyperplasia of infancy (NEHI) in order to provide a basis for the management of diagnosis, treatment and prognosis of children with NEHI. Methods A retrospective analysis was performed for the clinical data of seven children with NEHI who were diagnosed and treated from January 2014 to March 2016. Results Among the seven children with NEHI, there were five boys and two girls. Two children experienced tachypnea since the neonatal period, and five children developed respiratory tract symptoms within 1-6 months after birth. Of the 7 children, 6 had pulmonary crackles, 4 had hypoxemia, and 3 had gastroesophageal reflux. Lung high-resolution CT (HRCT) showed ground-glass opacities in the central region of the lungs in all children, which involved at least two lung lobes. Of the 7 children, 2 had the involvement of more than 4 lobes and 6 had air trapping. All 7 children had an improvement in clinical symptoms after two years of age. One child achieved clinical and CT remission. Four children achieved clinical remission, but still with CT changes. Conclusions NEHI often occurs in infancy, with the major clinical manifestations of persistent tachypnea, pulmonary crackles, and hypoxemia. The children with NEHI often present ground-glass opacities in the central region of the lungs and air trapping on HRCT. There is no specific treatment for this disease and most cases have a good prognosis.

2020 Vol. 22 (3): 257-261 [Abstract] ( 3099 ) [HTML 1KB] [PDF 1424KB] ( 659 )
262 FAN Xu, LU Hong-Ting, HOU Lin, ZHANG Li, YANG Bin-Yi, CHEN Wei-Ming, ZHANG Huan-Yu, CHEN Xin, LI FuJiang
A comprehensive analysis of potential prognostic biomarkers for MYCN-amplified neuroblastoma

Objective To study the differentially expressed mRNAs between MYCN-amplified neuroblastoma (NB) and non-amplified NB, to screen out the genes which can be used to predict the prognosis of MYCN-amplified NB, and to analyze their value in predicting prognosis. Methods NB transcriptome data and the clinical data of children were obtained from the TARGET database. According to the presence or absence of MYCN amplification, the children were divided into two groups:MYCN amplification (n=33) and non-MYCN amplification (n=121). The expression of mRNAs was compared between the two groups to obtain differentially expressed genes (DEGs). Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genome (KEGG) analysis was performed to investigate the main functions of DEGs. The Cox proportional-hazards regression model analysis was used to investigate the genes influencing the prognosis of MYCN-amplified NB. The children were divided into a high-risk group (n=77) and a low-risk group (n=77) based on the median of risk score. A survival analysis was used to compare survival rate between the two groups. The receiver operating characteristic (ROC) curve was used to investigate the value of risk score in predicting the prognosis of children with MYCN-amplified NB. Results A total of 582 DEGs were screened out, and they were involved in important biological functions such as ribosome composition, expression of cell adhesion molecules, and activity of membrane receptor protein. The multivariate Cox regression model analysis showed that FLVCR2, SCN7A, PRSS12, NTRK1, and XAGE1A genes had a marked influence on the prognosis of the children with NB in the MYCN amplification group (P < 0.05). The survival analysis showed that the high-risk group had a significantly lower overall survival rate than the low-risk group (P < 0.05). The ROC curve analysis showed that risk score had a certain value in predicting the prognosis of the children with NB in the MYCN amplification group (P < 0.05), with an area under the ROC curve of 0.729, an optimal cut-off value of 1.316, a sensitivity of 53.2%, and a specificity of 84.4%. Conclusions The mRNA expression of FLVCR2, SCN7A, PRSS12, NTRK1, and XAGE1A genes can be used as biomarkers to predict the prognosis of MYCN-amplified NB, which can help to refine clinical risk stratification.

2020 Vol. 22 (3): 262-268 [Abstract] ( 2983 ) [HTML 1KB] [PDF 1846KB] ( 985 )
269 WU Shi-Yan, ZHANG Hua, WU Wen, WU Yi-Yang
Value of serum miR-21-3p in predicting acute kidney injury in children with sepsis

Objective To study the value of serum miR-21-3p combined with serum creatinine (Scr), cystatin C (Cys-C), and kidney injury molecule-1 (KIM-1) in predicting acute kidney injury (AKI) in children with sepsis. Methods A total of 142 children who were diagnosed with sepsis from January 2016 to March 2019 were enrolled. According to the presence or absence of AKI, they were divided into AKI group with 49 children and non-AKI group with 93 children. The serum levels of miR-21-3p, Scr, Cys-C, and KIM-1 were measured for the two groups. The receiver operating characteristic (ROC) curve was plotted to analyze the value of serum miR-21-3p, Scr, Cys-C, and KIM-1 in predicting AKI. A Pearson correlation analysis was used to evaluate the correlation of serum miR-21-3p with Scr, Cys-C, and KIM-1. Results The AKI group had significantly higher serum levels of miR-21-3p, Scr, Cys-C, and KIM-1 than the nonAKI group (P < 0.05). The ROC curve analysis showed that the combination of serum miR-21-3p, Scr, Cys-C, and KIM-1 had an area under the ROC curve (AUC) of 0.962 (95%CI:0.906-0.998), which was significantly larger than the AUC of each index alone (P < 0.05), with a sensitivity of 97.0% and a specificity of 91.4%. The correlation analysis showed that the serum level of miR-21-3p was positively correlated with Scr, Cys-C, and KIM-1 in the AKI group (r=0.704, 0.812, and 0.863 respectively, P < 0.01). Conclusions There is a significant increase in the serum level of miR-21-3p in children with sepsis and AKI, and its combination with Scr, Cys-C, and KIM-1 has a high value in predicting AKI.

2020 Vol. 22 (3): 269-273 [Abstract] ( 2581 ) [HTML 1KB] [PDF 1586KB] ( 724 )
274 LIN Gui-Zhi, QIU Jian-Wu, DENG Mei, LIN Wei-Xia, GUO Li, SONG Yuan-Zong
DGUOK-related mitochondrial DNA depletion syndrome: a case report and literature review

A boy, aged 4 months, had the major clinical manifestations of prolonged jaundice and hepatomegaly. Multiple biochemical tests revealed abnormal liver function along with elevated alpha-fetoprotein and lactate. Genetic analysis confirmed that the boy had the mutations of c.589C > T(p.Gln197Ter) and c.687G > C(p.Trp229Cys) in the DGUOK gene, both of which were novel mutations and were determined to be pathogenic and likely pathogenic respectively, by a variety of bioinformatics tools and the ACMG standard. Therefore, the boy was confirmed to have DGUOK-related mitochondrial DNA depletion syndrome. Literature review showed that onset of liver disease in infancy was the main clinical feature of this disease, and some children presented with nervous system manifestations. Abnormal laboratory results included abnormal liver function, increases in blood lactate, serum ferritin and alpha-fetoprotein, and hypoglycemia. Such children had marked heterogeneity of DGUOK gene mutations, with missense mutations as the most common type. This disease tended to have a poor prognosis, and 79.6% of the children died before the age of 3 years.

2020 Vol. 22 (3): 274-279 [Abstract] ( 2784 ) [HTML 1KB] [PDF 1897KB] ( 970 )
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2020 Vol. 22 (3): 261-261 [Abstract] ( 1229 ) [HTML 1KB] [PDF 0KB] ( 135 )
REVIEW
280 HE Cui-Hong, QU Yi
Research advances in neonatal hyperbilirubinemia and gene polymorphisms

Hyperbilirubinemia is a prevalent disease in neonates and is also a main reason for hospitalization within the first week after birth, and this disease is mainly caused by the imbalance between production and elimination of bilirubin. Uridine diphosphate glucuronosyltransferase 1A1 (UGT1A1), organic anion transporter polypeptide 2 (OATP2), heme oxygenase 1 (HO-1), and biliverdin reductase A (BLVRA) play crucial roles in the metabolism of bilirubin. More and more studies have revealed the association between the variation of the encoding genes for these enzymes and hyperbilirubinemia. This article reviews the research advances in the association between the gene polymorphisms of bilirubin metabolic enzymes and hyperbilirubinemia.

2020 Vol. 22 (3): 280-284 [Abstract] ( 3249 ) [HTML 1KB] [PDF 1390KB] ( 972 )
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