Congenital nephrotic syndrome with neonatal polycythemia: a case report / 临床儿科杂志

Objectives To investigate the relationship between congenital nephrotic syndrome (CNS) and neonatal polycythemia, and clinical diagnosis and treatment. Methods The clinical manifestations, diagnosis, and treatment of a case of CNS with neonatal polycythemia were retrospective analyzed, and the related literature were reviewed. Results A male infant had abdominal distention after his birth, followed by feeding intolerance and poor response. On the third day of birth, he was diagnosed of neonatal polycythemia according to the levels of hemoglobin (249 g/L) and hematocrit (0.714 L/L). And after a partial exchange transfusion, the symptoms were improved. On the sixth day of birth, the infant had edema, urinary protein +++, serum albumin at 12.7 g/L and blood cholesterol at 8.84 mmol/L, and was clinical diagnosed of CNS. Oral hormone therapy was ineffective and he died 32 days after birth. Conclusions CNS combined with neonatal erythrocytosis is rare in clinic. The co-existing of the two is more likely to induce thromboembolism and organ dysfunction, and the clinical prognosis is poor.

Wiskott-Aldrich syndrome without mean platelet volume reduction: a case report / 中华围产医学杂志

We reported a case of full-term male neonate who was diagnosed with Wiskott-Aldrich syndrome(WAS) characterized by eczema, persistent thrombocytopenia and gastrointestinal bleeding (hematochezia). Serial blood tests showed decreased platelet count without platelet volume reduction. Treatment with human immunoglobulin and platelet transfusion turned out to be ineffective. A heterozygous mutation (c.121c>T) in WA S gene was detected. Moreover, his mother also had heterozygous mutation at the corresponding loci and was confirmed as a carrier. WAS should be considered in neonates presenting with unexplained thrombocytopenia even without mean platelet volume reduction and obvious immune deficiency.

Analysis on association between polymorphism of CD14 and IL-8 gene and susceptibility of necrotizing enterocolitis / 吉林大学学报(医学版)

Objective:To investigate the relationship between the gene polymorphism cluster of differentiation 14 (CD14)-159C/T (rs2569190),and interleukin-8 (IL-8)-251A/ T (rs4073)and the susceptibility of necrotizing enterocolitis (NEC),to clarify the influencing factors of susceptibility of NEC and to provide genetics theory basis for the research on the pathogenesis of NEC. Methods:Total 28 newborns with NEC and 41 newborns without NEC were selected.The amplification of peripheral blood DNA was conducted by PCR.The genotypic and allelic frequencies of CD14-159C/T and IL-8-251A/T of the patients were detected by Sanger DNA sequencing method. The relationship between them and the susceptibility of NEC was studied.Results:The distribution of genotypic frequencies of CD14-159C/T and IL-8-251A/T was consistent with Hardy-Weinberg equilibrium (P >0.05).There were no significant differences of the allelic and genotypic frequencies of CD14-159C/T,or genotypic frequencies of IL-8-251A/T between two groups (P >0.05).While in NEC group,the T allelic frequency of IL-8-251A/T site was higher than that in control group (χ2 = 4.184, P = 0.041, OR = 2.14, 95% CI: 1.03 - 4.46 ). Conclusion:The polymorphism of CD14-159C/T is irrelevant to the pathogeny of NEC,but T allelic frequency of IL-8-251A/T site might be related to the susceptibility of NEC.So T allele in IL-8-251A/T may be one of the danger factors of NEC.

Application value of urinary lactate/creatinine ratio in prognosis evaluation of neonatal asphyxia / 吉林大学学报(医学版)

Objective To explore the association between urinary lactate/creatinine ratio and neonatal asphyxia,and to clarify the application value of urinary lactate/creatinine ratio in forecasting the hypoxie-ischemic encephalopathy (HIE)in neonates.Methods Using case-control study design method,40 cases of neonatal asphyxia infants were selected as asphyctic group and 40 healthy infants were used as control group.The urinary lactate/creatinine ratio in the first day after birth, urinary N-Acetyl-β-D-glucosaminidase (NAG)/creatinine and the score of Apgar of 80 infants were detected.The relationship between the urinary lactate/creatinine ratio,urinary NAG/creatinine ratio, as well as the score of Apgar and HIE were analyzed and compared in asphyctic group and control group.Results The Apgar scores at 1 and 5 min in asphyctic group were significantly lower than those in control group (P<0.01). The urinary lactate/creatinine ratio and urinary NAG/creatinine ratio in asphyctic group 1 d after birth were significantly higher than those in control group(P<0.01).There was significantly negative correlation between the urinary lactate/creatinine ratio and the 1-min and 5-min Apgar scores(r=-0.636,P<0.001;r=-0.883,P<0.01),but there was a significantly positive correlation between the urinary lactate/creatinine ratio and urinary NAG/creatinine ratio(r=0.433,P<0.01).Conclusion The urinary lactate/creatinine ratio may have decisive roles in prognosis evaluation of neonatal asphyxia,and so as the important foundation for the prediction of HIE.

Changes in plasma endothelin-1 and atrial natrinretic factor in microvascular complication of IDDM / 吉林大学学报(医学版)

Objective:To investigate the changes in plasma ET-1 and ANF in IDDM and its microvascular complication.Methods:The plasma levels of ET-1 and ANF were measured by radioimmunoassy in 31 patients with IDDM and 25 normal controls.Results:The plasma levels of ET-1 and ANF significantly increased in IDDM compared with the normal controls (P<0.01);and the levels were also markedly higher in diabetics with microangiopathy complications than in those withou the complications (P<0.01).The more kinds of microangiopathey complications,the higher level of the plasma ET-1 and ANF,which suggests that the elevation of plasma ET-1 and ANF may be concerned with the microangiopathy and ET-1 may reflect the degree of vascular endothelial cell damage.There were no significant correlation between plasma ET-1 or ANF and blood glucose,fructosamine and C-peptide,but the plasma levels of ET-1 and ANF both correlated with the duration of diabetes mellitus.And the plasma level of ET-1 positively correlated with ANF1 (P<0.01).Conclusion:The results of study suggest that ET-1 and ANF are both associated with the development,progress and severity of microvascular complications.