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Objective:To study disease spectrum and genetic profiles of inborn errors of metabolism (IEM) among newborns in selected areas of Nanning city.Methods:From July 2019 to December 2021, neonates born and received IEM screening in our hospital were prospectively enrolled. Heel blood samples were tested using tandem mass spectrometry as IEM screening. Neonates with positive results were called back for recheck. Whole exome sequencing was used to detect possible pathogenic genes in suspected cases and IEM was diagnosed combining clinical manifestations. Sanger sequencing method was used for the diagnosed neonates and their parents to confirm the diagnoses.Results:A total of 16 207 live-birth neonates were enrolled. For initial IEM screening, 1 423 neonates were positive (8.8%) and 1 311 were called back (92.1%). 15 cases were suspected with IEM and 8 were diagnosed. The overall detection rate was 1∶2 026. Among 8 confirmed cases, 4 cases had amino acid metabolism disorders (2 cases of phenylketonuria, 1 case of Citrin deficiency and 1 case of tyrosinemia), 2 cases had organic acid metabolism disorders (1 case of methylmalonic acidemia and 1 case of glutaric acidemia) and 2 cases had fatty acid oxidation disorders (1 case of carnitine palmitotransferaseⅡdeficiency and 1 case of primary carnitine deficiency). 5 cases had homozygous genetic variants (2 in PAH, and 1 in SLC25A13, SLC22A5 and FAH, respectively) and 3 had heterozygous genetic variants (1 in CPT2, MUT, and GCDH, respectively). During follow-up, all 8 cases had normal growth and developmental outcomes after standardized treatment.Conclusions:The overall detection rate of IEM is high, with varied genetic profiles in selected areas of Nanning. Timely genetic testing may lead to early diagnosis and treatment and improve the quality of life of neonates.
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Objective To study the effects of stored blood with low glucose 6-phosphate dehydrogenase (G6PD) activity for exchange transfusion (ET) in neonate hyperbilirubinemia.Method From January 2017 to December 2018,all neonates receiving ET for neonatal hyperbilirubinemia in neonatology department of our hospital were prospectively enrolled.G6PD activity in stored blood and in these neonates were examined.Their demographic information and other clinical data including post-ET total serum bilirubin (TSB) decrease,post-ET phototherapy duration and total hospital stay duration were collected.Result A total of 99 cases were enrolled,51 cases with normal G6PD and 48 G6PD deficiency.Among normal G6PDneonates,those receiving low G6PD activity blood had less decrease of post-ET TSB [(56.9 ± 8.4) ％ vs.(72.5 ± 14.4) ％],longer hospital stay and longer post-ET phototherapy duration [(6.4 ± 2.3) d vs.(4.9 ± 1.3) d,(70.8 ± 36.2) h vs.(52.3 ± 16.3) h] (P ＜ 0.05) than those receiving normal G6PD blood.Among G6PD deficiency neonates,those receiving low G6PD activity blood had less decrease of post-ET TSB [(58.8 ±6.2)％ vs.(67.3 ± 13.9)％],longer hospital stay and longer post-ET phototherapy duration [(5.5 ± 2.2) d vs.(4.4 ± 1.4) d,(60.6 ± 25.9) h vs.(47.9 ± 27.9) h] (P ＜ 0.05) than those receiving normal G6PD blood.The G6PD activity in stored blood had significant influences on duration of phototherapy (F =7.695,P =0.007),duration of hospital stay (F =12.528,P =0.001) and decrease of post-ET TSB (F =29.025,P ＜ 0.001).Conclusion ET with low G6PD activity stored blood has less favourable effects with less post-ET TSB decrease and prolonged duration of phototherapy and hospital stay.
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Objective:To analyze the clinical characteristics of neonatal enteroviral meningitis.Methods:A retrospective analysis was conducted on 87 cases with intracranical infection.The cerebrospinal fluid(CSF)samples of these neonates were collected and tested by polymerase chain reaction(PCR) for enterovirus.According to the results, the cases were divided into the positive group(55 cases) and negative group(32 cases). The clinical characteristics of the cases were collected.Results:The time in hospital of the positive group was shorter than the negative group[(9.5±5.2)d vs.(21.8±15.8)d, t=4.295, P<0.001]. The cure rates of the positive group was higher[96.4%(53/55) vs. 81.2%(26/32), χ2=3.872, P=0.049]. There was no death case in the positive group, while there were 3 death cases(9.4%, 3/32)in the negative group.In summer and autumn, the morbidity of the positive group was higher[96.4%(53/55) vs.62.5%(20/32), χ2=17.181, P<0.001]. In two groups, the most predominant clinical presentation was fever[90.9%(50/55) vs. 68.8%(22/32), χ2=6.962, P=0.008]. CSF examination results showed that white blood cells, the proportion of polymorphonuclear cell and CSF protein in the positive group were lower than those in the negative group, while the proportion of mononuclear cell and CSF glucose level in the positive group were higher( P<0.001). Blood and CSF cultures were negative in the positive group.There were 10 cases whose blood cultures and CSF cultures were positive in the negative group.Among them, there were 3 cases infected by group B streptococcus, 6 cases by E. coli, 1 case by Chryseobacterium meningosepticum.The prognoses of the CSF culture positive cases were poor.The abonormal cases detected by cerebral ultrasound, MRI and aEEG were fewer in the positive group( P<0.05). Conclusion:Enterovirus is the common pathogen of nonbacterial meningitis in summer and autumn in our region.The prognosis of enteroviral meningitis is better.Neonates with suspected clinical presentation, such as fever, should undergo PCR test to check CSF for enteroviru.