Medium-chain acyl-CoA dehydrogenase deficiency: neonatal screening and follow-uP / 中国当代儿科杂志

OBJECTIVE@#To investigate the epidemiological characteristics, phenotype, genotype, and prognosis of medium-chain acyl-CoA dehydrogenase deficiency (MCADD) in the Chinese population.@*METHODS@#A retrospective analysis was performed for the clinical data of the neonates who underwent screening with high-performance liquid chromatography-tandem mass spectrometry from January 2009 to June 2018 and were diagnosed with MCADD by gene detection.@*RESULTS@#A total of 2 674 835 neonates underwent neonatal screening, among whom 12 were diagnosed with MCADD. Gene detection was performed for 10 neonates with MCADD and found 13 mutation types at 16 mutation sites of the ACADM gene, among which there were 7 reported mutations (p.T150Rfs*4, p.M1V, p.R206C, p.R294T, p.G310R, p.M328V, and p.G362E), 5 novel mutations (p.N194D, p.A324P, p.N366S, c.118+3A>G, and c.387+1del G), and 1 exon 11 deletion; p.T150Rfs*4 was the most common mutation (4/16). The detection rate of mutation sites in the ACADM gene was 80%. No phenotype-genotype correlation was observed. Dietary guidance and symptomatic treatment were given after confirmed diagnosis. No acute metabolic imbalance was observed within 4-82 months of follow-up. All neonates had good prognosis except one who had brain dysplasia.@*CONCLUSIONS@#MCADD is relatively rare in southern China, and p.T150Rfs*4 is a common mutation in the Chinese population. Cases with positive screening results should be evaluated by octanoylcarnitine C8 value and gene detection.

Observation on efficacy of Huaiqihuang Granule in treatment of nephrotic syndrome in children / 中草药

Objective: To investigate the efficacy of Huaiqihuang Granule in children with primary nephrotic syndrome. Methods: There were 112 cases (78 male and 34 female, at the age of 1.3-13.5 years old) in the ward of Renal Department of Internal Medicine in Affiliated Children's Hospital, School of Medicine, Zhejiang University during July 1st, 2009 to June 30th, 2010, who were initially treated and sensitive to glucocorticoid. They were enrolled in the study randomly and were divided into two groups under the similar condition: group A (54 cases in treatment group with Huaiqihuang Granule) and group B (58 cases in control group with hormone instead of Huaiqihuang Granules). We observed the duration of proteinuria turned into negative, the frequency of recurrence, the frequency of respiratory tract infection, and the changing of cytokines after the treatments. On the admission and six months after the onset of disease, the IL-2, -4, -6, and -10, TNF, and IFN-γ of some patient children were determined. Results: The duration of proteinuia being negative was 5-22 d (average 12.6 d) in the group A and 5-24 d (average 14.1 d) in the group B. After one year's follow-up, nine cases suffered recurrence in group A (16.67%), while 20 cases in group B (34.48%). There was statistically significant difference with P < 0.05. Among 38 cases who were suffered respiratory tract infection frequently in group A, the times of infection were significantly reduced in 32 cases, the reduction rate was 84.21%, while it was 47.50% in group B (P < 0.01). All the recurrence patients were associated with infection. The level of IL-2 was low during disease, after recovery, it increased faster in group A than in group B (P < 0.05). IFN-γ was elevated at the onset in both groups, after recovery it dropped down to normal in group A, and decreased under the normal level in group B. The TNF, IL-6, and -10 showed no significant deference between the two groups. Conclusion: Huaiqihuang Granule can reduce the relapse rate of nephrotic syndrome in children according to its influence to cellular immune function.