谷草转氨酶与血小板比值指数联合总胆汁酸对胎龄<34周早产儿肠外营养相关性胆汁淤积症的预测价值北大核心CSCD

目的探讨谷草转氨酶与血小板比值指数(aspartate aminotransferase-to-platelet ratio index,APRI)联合总胆汁酸(total bile acid,TBA)对胎龄<34周早产儿肠外营养相关性胆汁淤积症(parenteral nutritionassociated cholestasis,PNAC)的预测价值。方法回顾性分析2019年1月—2022年9月在皖南医学院第一附属医院住院期间接受肠外营养(parenteral nutrition,PN)的270例胎龄<34周早产儿的临床资料,包括PNAC 128例和非PNAC 142例。比较两组的临床资料,通过多因素logistic回归分析探讨PNAC发生的预测因素,并采用受试者操作特征曲线(receiver operating characteristic curve,ROC曲线)评价APRI、TBA单独及二者联合预测PNAC的价值。结果PNAC组在PN 1、2及3周后的TBA水平均高于非PNAC组(P<0.05);PN 2、3周后PNAC组APRI均高于非PNAC组(P<0.05)。多因素logistic回归分析显示,PN 2周后APRI和TBA升高是早产儿发生PNAC的预测因素(P<0.05)。ROC曲线分析显示,PN 2周后APRI联合TBA预测PNAC发生的灵敏度、特异度及曲线下面积(area under the curve,AUC)分别为0.703、0.803、0.806;APRI联合TBA预测PNAC发生的AUC高于APRI、TBA单独预测的AUC(P<0.05)。结论在PN 2周后,APRI联合TBA对胎龄<34周早产儿PNAC的预测价值较高。     

Hepatic steatosis and neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) in Taiwanese infants

OBJECTIVES: To explore the prevalence of hepatic steatosis and neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) in Taiwanese infants with idiopathic intrahepatic cholestasis. STUDY DESIGN: The liver specimens from 69 infants with idiopathic intrahepatic cholestasis were reviewed (1993-2004); 11 of them (14.7%) had hepatic steatosis. Six patients with hepatic steatosis participated in the genetic study for the SLC25A13 gene under parental consent. RESULTS: Infants with cholestasis and hepatic steatosis had lower aspartate aminotransferase (AST) and alanine aminotransferase (ALT) levels than those with cholestasis alone. Three of the six infants in the genetic study had homozygous 851del4 mutation; for the others, homozygous 1638ins23 mutation, compound heterozygous 851del4/IVS6+5G-->A mutation, and heterozygous IVS6+5G-->A mutation were found for each one. Eleven of the total 12 alleles (91.7%) were demonstrated to have SLC25A13 gene mutations. CONCLUSIONS: Metabolic and genetic studies for NICCD should be performed in Asian infants with idiopathic intrahepatic cholestasis and hepatic steatosis. The 851del4 mutation on the SLC25A13 gene accounts for the major genotype expression of patients with NICCD in Taiwan.     

Severe liver injury after initiating therapy with atomoxetine in two children

Two children presented with acute hepatitis after starting therapy with atomoxetine (Strattera). In one child, no competing diagnosis could be identified, and liver injury resolved completely on withdrawal of the medication. In the second child, the evaluation was suggestive of type 1 autoimmune hepatitis; she subsequently improved with removal of atomoxetine and concomitant immunosuppressive therapy. Atomoxetine may cause clinically significant hepatotoxicity either by metabolic idiosyncrasy or by inducing autoimmune hepatitis.     

VPS33B mutation with ichthyosis, cholestasis, and renal dysfunction but without arthrogryposis: incomplete ARC syndrome phenotype

Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome is a rare multisystem disorder first described in 1979 and recently ascribed to mutation in VPS33B, whose product acts in intracellular trafficking. Arthrogryposis, spillage of various substances in the urine, and conjugated hyperbilirubinemia define an ARC core phenotype, in some patients associated with ichthyosis, central nervous system malformation, deafness, and platelet abnormalities. We describe a patient with cholestasis, aminoaciduria, ichthyosis, partial callosal agenesis, and sensorineural deafness who, although homozygous for the novel VPS33B mutation 971delA/K324fs, predicted to abolish VPS33B function, did not exhibit arthrogryposis. The phenotypes associated with VPS33B mutation may include incomplete ARC.     

Comparison of dimercaptosuccinic acid and calcium disodium ethylenediaminetetraacetic acid versus dimercaptopropanol and ethylenediaminetetraacetic acid in children with lead poisoning

Objectives: To compare the response to dimercaptopropanol (BAL) and calcium disodium ethylenediaminetetraacetic acid (EDTA) versus orally administered meso-2,3-dimercaptosuccinic acid (DMSA) and EDTA in children with lead poisoning.Methods: Retrospective review of medical records of children admitted to MetroHealth Medical Center with a whole blood lead (BPb) concentration of 2.17 μmol/L (45 μg/dl) or more (or less than 2.17 μmol/L and not a candidate for outpatient oral chelation) and treated with BAL + EDTA or DMSA + EDTA. In each group, the mean BPb values at the end of therapy and at 14 and 33 days after chelation were compared with pretreatment BPb by the Wilcoxon signed-rank test, whereas the Mann-Whitney U test was used to compare percentage change from pretreatment at each follow-up day between the two groups.Results: Twenty-three children received BAL + EDTA and 22 received DMSA + EDTA.The BPb values (mean ± SD) at the end of therapy and at 14 and 33 days after chelation were significantly lower than pretreatment in both groups (BAL + EDTA: 17 ± 10, 34 ± 7, 36 ± 11 vs 58 ± 14 μg/dl, p <0.02, 0.01, 0.001, respectively; DMSA + EDTA: 10 ± 4, 30 ± 10, 30 ± 14 vs 50 ± 10 μg/dl, p <0.01, 0.001, 0.01, respectively). The percentage reduction (mean ± SD) in BPb from pretreatment at the end of therapy and on days 14 and 33 after chelation did not differ between the groups (BAL + EDTA: −71.2% ± 19.8%, −40.2% ± 13.8%, −37.1% ± 17%; DMSA + EDTA: −79.9% ± 8.7%, −38.3% ± 21.6%, −37% ± 32%; p >0.20). Elevation of alanine aminotransferase and vomiting during therapy were observed more frequently in the BAL + EDTA group compared with the DMSA + EDTA group.Conclusions: Treatment with DMSA or BAL combined with EDTA results in a comparable reduction in BPb. (J Ppediatr 1997;130:966-71)