Journal of Clinical Pediatrics

Some reflections on pediatric renal diseases　

ZHANG Hongwen

. 2018, 36(6): 401. doi:10.3969/j.issn.1000-3606.2018.06.001

Abstract ( 298 )

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Great successes have been achieved on the pediatric renal diseases under the guidance of The Group of Nephrology, Chinese Pediatric Society, Chinese Medical Association for the past thirty years. Especially that evidence-based guidelines and related interpretation for the diagnosis and treatment of common renal diseases in children were published from 2009 to 2016 unifies and standardizes the diagnosis and treatment of common pediatric renal diseases. However there are some divergences and doubts in clinical practice, and the author makes some reflections on some aspects of the clinical application.

Risk factors and outcome of acute kidney injury in very low birth weight infants

　CHEN Zijin, YANG Haiping, ZHANG Gaofu, WANG Mo, LI Qiu, XU Zhene

. 2018, 36(6): 406. doi:10.3969/j.issn.1000-3606.2018.06.002

Abstract ( 348 )

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　Objective　To explore the risk factors of acute kidney injury (AKI) in very low birth weight (VLBW) infants. Method　The clinical data of 313 VLBW newborns aged under 3 days from January 2012 to December 2016 were retrospectively analyzed. According to the improved KDIGO standard of neonatal AKI, the difference between AKI (group AKI) and non AKI (group NAKI) newborns was compared, and the risk factors of AKI and mortality of AKI infants were analyzed. Results　In the 313 VLBW infants, 126 had AKI and the incidence rate was 40.3%. There were 53 cases at stage 1 (42.1%), 43 cases at stage 2 (34.1%), and 30 cases at stage 3 (23.8%). Compared with NAKI group, patients in AKI group were lower in gestational age, birth weight, 5-minute Apgar score, critical score and mean arterial pressure. Furthermore, AKI group was higher in mother’s age, incidence of premature rupture of membranes and respiratory failure. Also, white blood cells number and procalcitonin level were higher; albumin and sodium levels were lower; more cases had invasive mechanical ventilation after birth; time of mechanical ventilation was longer; mortality were higher in AKI group. There were statistically differences (P<0.05). Multivariate logistic regression analysis showed that gestational age, respiratory failure and invasive mechanical ventilation at birth were independent risk factors for AKI in VLBW infants. More severe acidosis and associated pulmonary hemorrhage at admission were the independent risk factors for the death caused by AKI in children. Conclusions　Short gestational age, respiratory failure, and invasive mechanical ventilation at birth significantly increased the risk of AKI in VLBW infants. The more severe metabolic acidosis and pulmonary hemorrhage increased the risk of death in AKI children .

Dent disease I in 4 children: a case report

KUANG Qianhuining, GAO Chunlin, XIA Zhengkun

. 2018, 36(6): 411. doi:10.3969/j.issn.1000-3606.2018.06.003

Abstract ( 496 )

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Objective　To explore the diagnosis and treatment of Dent disease I. Method　The clinical data of 4 children with Dent diseaseⅠand the direct sequencing results of Dent disease-related genes CLCN5, OCRL1 exons and nearby regulatory regions were retrospectively analyzed. Results　All the four children were male, the age at onset was 1.5~4 years and the age at diagnosis was 3~10 years. All of them had the clinical manifestations of proteinuria, among which 2 cases were accompanied by rickets symptoms. Gene detection showed that all of them had CLCN5 mutations, L263F, R104X, S244L and exon 9-13 deletion respectively. S244L is the most common mutation in patients with Dent disease I, and the rest are newly discovered mutation sites. Conclusion　Dent disease I is mainly manifested as low molecular weight proteinuria and hypercalciuria. Gene detection contributes to the early and clear diagnosis.

Dent disease combined with renal failure: two case report and literature review

　ZHANG Hongwen, SU Baige, WANG Fang, LIU Xiaoyu, XIAO Huijie, YAO Yong

. 2018, 36(6): 416. doi:10.3969/j.issn.1000-3606.2018.06.004

Abstract ( 642 )

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Objective　To explore the etiology and prognosis of Dent disease combined with renal failure in children. Methods　The clinical data of 2 children with Dent disease combined with renal failure from January 2014 to December 2016 were analyzed and the related literature was reviewed. Results　Both of them were male, with the age of 8 and 10 years old respectively. Their renal functions were normal, and no renal calcification. Both of them had the history of upper respiratory tract virus infections within 1 week before the onset of renal failure. In case 1, acute phase (10 days) renal biopsy showed combined with acute tubulointerstitial nephritis, and his renal function recovered completely after glucocorticoids treatment. In case 2, renal biopsy at 6 months in course of disease showed the combined with subacute tubulointerstitial nephritis, and his renal function was improved partly after glucocorticoids treatment. Conclusions　For children with Dent disease combined with acute renal failure, especially with upper respiratory tract virus infections and other inducement, renal biopsy should be early performed to exclude the possibility of acute tubulointerstitial nephritis, so that the treatment can be timely conducted and the prognosis can be improved.

Clinical phenotype and genotype analysis of infantile polycystic kidney: a case report

ZHAO Yanfeng, HUANG Yuge

. 2018, 36(6): 420. doi:10.3969/j.issn.1000-3606.2018.06.005

Abstract ( 488 )

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Objective　To explore the clinical phenotype and genotype characteristics of infantile polycystic kidney. Method　The clinical data of polycystic kidney disease in one infant were retrospectively analyzed, and the correlation between clinical phenotype and genotype was analyzed. Results　In this infant the polycystic kidney was discoved in the fetal period, and shortness of breath, foaming at the mouth were present after birth. Abdominal magnetic resonance imaging indicated that there was medullary sponge kidney in both kidneys accompanied by mild effusion and cysts were found in the right kidney. Gene detection showed a missense mutation c.1123 C>T (Arg375Trp) of exon15 in PKHD1 gene. The exon31 of PKHD1 gene had a missense mutation c.3617G>T (Gly1206Val), which was a new missense mutation. The exon18 of PKD1 gene had a missense mutation c.7211G>A (Arg2404Gln), which is a complex heterozygous mutant of homozygote. All of the mutations are missense mutations. The infant was improved and discharged after treatment, and renal function was normal during 4 months of follow-up. Conclusion　Gene detection can be used for early diagnosis of infantile polycystic kidney disease. Newborns with two missense mutations can survive, and exon31 mutation c.3617G>T (Gly1206Val) is a new finding.

Clinical characteristics, treatment and follow-up of Cockayne syndrome with renal involvement

　LIU Xiaoyu, TANG Zezhong, WANG Fang, ZHANG Hongwen, CHEN Zhihui, YAO Yong, DING Jie

. 2018, 36(6): 424. doi:10.3969/j.issn.1000-3606.2018.06.006

Abstract ( 471 )

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　Objective　To explore the clinical features, treatment and follow-up of Cockayne syndrome with renal involvement. Method　The clinical data of one child with Cockayne syndrome confirmed by gene detection with renal injury were reviewed, and the clinical features of renal involvement in Cockayne syndrome were summarized. Results　A male child aged 3 years and 8 months had clinical manifestations of mental retardation, growth retardation, special face and photosensitive dermatitis, and renal involvement was manifested by nephrotic syndrome. Cranial CT showed symmetrically calcification in bilateral basal ganglia. The targeted next generation sequencing results showed homozygous mutations of c.394_398del and p.Leu132Asnfs in ERCC8 gene (NM_000082) of the child, and the same heterozygous mutation was found in both his parents (non-consanguineous marriage). After the diagnosis of nephrotic syndrome, full dose prednisone was given for experimental treatment. The urine protein decreased but did not disappear, which was considered hormone resistance. After 4 months of combined treatment with cyclosporin, the urine protein turned negative. During 20 months of follow-up, urine protein remained negative and renal function remained stable. The renal involvement in Cockayne syndrome was seldomly reported, and its clinical manifestations are heterogeneous. Condusion　Renal involvement in Cockayne syndrome may be manifested with nephrotic syndrome which should be noticed.

The clinical menifestation, electrophysiological characteristics, and prognosis of demyelinating and axonal Guillain- Barré syndrome in children

　SUN Ruidi, CUI Lin, LI Cheng, LUO Xiaoqing, FENG Li, YU Xiaoli, LIU Zhisheng, JIANG Jun

. 2018, 36(6): 428. doi:10.3969/j.issn.1000-3606.2018.06.007

Abstract ( 505 )

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　Objective　To explore the clinical menifestation, electrophysiological characteristics and prognosis of demyelinating and axonal Guillain-Barré syndrome (GBS) in children. Method　A total of 81 children with GBS were divided into demyelinating and axonal subtypes according to the results of two electrophysiological examinations. And the clinical, neuro electrophysiological characteristics and prognosis of the two groups were analyzed. Results　There were 60 cases of demyelinating GBS and 21 cases of axonal GBS. In children with axonal GBS, there were 5 cases of reversible conduction block. The interval of onset to fastigium in axonal GBS was shorter than that of demyelinating subtype, and blood antiganglioside antibody was more common, and there were statistically differences (P all<0.05). The age at onset, the history of the prodromal infection, the sensory symptoms, the cranial nerve involvement, the impairment of the autonomic nervous function, the cerebrospinal fluid protein-cell separation, and the HG scores at the time of admission and during fastigium were similar between the two groups (P>0.05). Children with reversible conduction block had faster recovery than those without reversible conduction block in axonal GBS, and there was statistical differences (P<0.01). There was no difference in short-term prognosis (2 months after discharge) and long-term prognosis (1 years after discharge) between the axonal GBS and demyelinating GBS children (P>0.05). Conclusion　Axonal GBS clinically progressed more rapidly than demyelinating subtype, but there was no difference in prognosis between them. Also, axonal GBS with a reversible conduction block recovered faster.

Changes and significance of serum Copeptin and MMP-9 in children with chronic heart failure　

　PANG Chunyu, WU Xueli, REN Liying, WANG Xusong, HONG Li

. 2018, 36(6): 432. doi:10.3969/j.issn.1000-3606.2018.06.008

Abstract ( 352 )

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Objective　To investigate the changes of serum Copeptin and matrix metalloproteinase-9 (MMP-9) in children with chronic heart failure (CHF) and its clinical significance. Methods　A total of 186 children with CHF were selected for CHF group, including 78 cases of cardiac function grade Ⅱ, 65 cases of grade Ⅲ, and 43 cases of grade Ⅳ. There were 57 cases of dilated cardiomyopathy, 68 cases of congenital heart disease and 61 cases of other diseases. Another 85 healthy children from health checkup were chosen as controls. The levels of serum Copeptin and MMP-9 were determined by enzyme linked immunosorbent assay (ELISA), and the level of N-terminal pro-brain natriuretic peptide (NT-proBNP) was measured by bidirectional lateral flow immunoassay. The left ventricular end diastolic dimension (LVEDD), left ventricular end systolic dimension (LVESD), left ventricular ejection fraction (LVEF), and left ventricular short fraction shortening (LVFS) were measured by echocardiography. ROC curve was used to analyze the diagnostic value of serum Copeptin and MMP-9 in CHF. The correlation of serum Copeptin and MMP-9 with the cardiac function indices were examined by Pearson correlation analysis. Results　The levels of serum copeptin, MMP-9, and NT-proBNP in different cardiac function groups (Ⅱ, Ⅲ, Ⅳ) increased gradually with the aggravation of the cardiac function damage and were higher than those in control group, and the differences were statistically significant (P<0.05). Compared with the control group and cardiac function grade Ⅱ group, the levels of LVESD and LVEDD were increased and the levels of LVEF and LVFS were decreased in the grade Ⅲ and Ⅳ groups. Compared with the grade Ⅲ group, the levels of LVESD and LVEDD were increased and the levels of LVEF and LVFS were decreased in the grade Ⅳ groups. There were significant differences (P<0.05). The ROC curve showed that the area under the curve (AUC) and 95% CI of serum Copeptin, MMP-9, NT-proBNP and combinations of these three biomarkers in the diagnosis of CHF were 0.845 (0.781~0.914), 0.806 (0.736~0.883), 0.894 (0.828~0.962) and 0.925 (0.846~0.983) respectively, and the optimal thresholds were 12.5 pmol/L, 175.3 μg/L and 2037.0ng/L. The level of serum Copeptin was positively correlated with MMP-9 (r=0.807, P<0.001). Conclusion　Serum Copeptin and MMP-9 may be involved in the ventricular remodeling in CHF children and they are expected to be a good indicator for the diagnosis of CHF and cardiac function.

Clinical study of 62 cases of anomalous left coronary artery from the pulmonary artery

ZHANG Xu, HUANG Meirong, LIU Tingliang, GAO Wei, LI Fen, GUO Ying, FU Lijun, XU Xinyi

. 2018, 36(6): 438. doi:10.3969/j.issn.1000-3606.2018.06.009

Abstract ( 578 )

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　Objective　To explore the clinical manifestation, treatment and prognosis of anomalous left coronary artery from the pulmonary artery (ALCAPA). Method　The clinical data of patients with ALCAPA from January 2011 to September 2016 were retrospectively analyzed. All the patients were divided into infant group (<12 months) and child group (≥12 months). Results　In the 62 patients (38 infants and 24 children) with ALCAPA, the median ΔLVDD (actually measured LVDD – the normal upper limit of LVDD in this age group) of infant group and child group was 13.6 (8.4~17.5) mm and 8.5 (3.3~13.7) mm respectively. The mean LVEF of the infant group was 40.6±2.4 %, lower than that of the children group (59.0±2.9) %, and the difference was statistically significant (P<0.01). Sixty children were treated with surgery. The mean cardiopulmonary bypass duration of infant group (137.1±8.4 min) was longer than that of the children group (105.9±6.6 min), and the difference was statistically significant (P=0.010). The median mechanical ventilation time after operation in infant group (6 d, 3~7 d), was longer than that in the children group (2 d, 1~4 d), and the difference was statistically significant (P<0.01). The median follow-up time of 60 patients was 38 months. Six patients died within 1 month after surgery (5 cases in the infant group and 1 in the children group), and there were no deaths more than 1 month after surgery. In 22 cases, the flow rate of pulmonary valve increased rapidly within 1 week after operation (>1.8 m/s). Conclusion　ALCAPA is easily misdiagnosed as dilated cardiomyopathy. The clinical manifestations of infants were more severe than those of children. The mortality was high within 1 month after surgery, and the long-term prognosis was better.

Value of Tau protein and resistin in early prediction of premature brain damage induced by intrauterine infection

MIAO Yuanqing, XU Yan, MIAO Lin, WANG Jun

. 2018, 36(6): 443. doi:10.3969/j.issn.1000-3606.2018.06.010

Abstract ( 253 )

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Objective　To explore the value of plasma Tau protein and resistin in early prediction of brain injury in premature infants caused by intrauterine infection. Method　A total of 47 premature infants in NICU with early-onset sepsis were selected as infection group from January 2017 to October. According to the cranial MRI, the infection group was further divided into brain injury group (22 cases) and non-brain injury group (25 cases). In addition, 12 normal preterm infants were selected as the control group. Enzyme linked immunosorbent assay (ELISA) was used to detect plasma Tau protein and resistin levels on the first, third and seventh day after birth in three groups. Results　The Tau protein in the brain injury group increased significantly on the first day, and then gradually decreased, while it was higher than that in the non-brain injury group and the control group at all time points, and there were statistical differences (P<0.05). At different time points, there was no difference in the level of Tau protein between the non-brain injury group and the control group (P>0.05). The level of resistin in the brain injury group increased significantly on the first day until the third day, and significantly decreased in the seventh day, and it was higher than that in the non-brain injury group and the control group at all time points, and there were statistical differences (P<0.05). Resistin increased on the first day, then gradually decreased, and returned to normal on the seventh day in the non-brain injury group. Conclusion　Detection of plasma Tau protein and resistin levels within 3 days after birth may be helpful for early prediction of brain damage in premature infants with intrauterine infection.

Clinical analysis of neonatal Mycoplasma pneumoniae pneumonia and Chlamydia trachomatis pneumonia

FENG Hui, PU Xiangyang, ZHONG Qin, LU Qi

. 2018, 36(6): 447. doi:10.3969/j.issn.1000-3606.2018.06.011

Abstract ( 473 )

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　Objective　To explore the clinical characteristics of neonatal Mycoplasma pneumoniae pneumonia (MPP) and Chlamydia trachomatis pneumonia (CTP). Method　The clinical data of neonatal MPP and CTP which diagnosis was confirmed from January 2013 to December 2016 were analyzed, and the newborns with other infectious pneumonia were selected as controls of MPP group and CTP group respectively according to the matching standard. Results　There were 44 cases in MPP group, 30 cases in CTP group, 88 cases in MPP control group and 60 cases in CTP control group. In 44 cases of MPP group, 17 cases had the history of contact with respiratory infection patients (38.6%), 44 cases had cough (100.0%), 16 cases had fever (36.4%), 16 cases had diarrhea (36.4%), 10 cases had respiratory failure (22.7%), 9 cases had type II respiratory failure (20.5%), 4 cases had segmental consolidation (9.1%) and 5 cases had interstitial change (11.4%). The incidence rates above were higher than those in its control group, and the differences were statistically significant (P<0.05). In the 30 cases of CTP group, 26 cases were vaginal delivery (86.7%), 11 cases had premature rupture of membranes (36.7%), 28 cases had cyanosis (93.3%), 13 cases had diarrhea (43.3%), and 11 cases had eye secretion (36.7%). The incidence rates above were higher than those in the control group, and there were statistical differences (P<0.05). The proportion of vaginal delivery in CTP group was higher than that in MPP group, and the proportion of patients with the history of contact with respiratory tract infection patients was lower than that in MPP group , and there were statistical differences (P<0.05). Fever, cough, anhelation and fine wet rales were more common in MPP group than those in CTP group, and cyanosis and eye secretion were more common in CTP group than those in MPP group, and there were statistical differences (P<0.05). Patients in MPP group and CTP group were treated with macrolide antibiotics, and all of them were improved and discharged without any death. Conclusion　Neonatal MPP is more susceptible to fever, cough, anhelation and fine wet rale in the lungs. The neonatal CTP is more likely to have cyanosis and eye secretions. Macrolide antibiotics can be used in both of them, and the prognosis is good.

Application of temporary electrotherapy for acute intractable tachyarrhythmia in children

YAN Zhen, WANG Jianyi, LI Yun, XIAO Tingting, XIE Lijian, XU Meng

. 2018, 36(6): 453. doi:10.3969/j.issn.1000-3606.2018.06.012

Abstract ( 333 )

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Objective　To explore the value of transesophageal atrial pacing (TEAP) and temporary cardiac pacing in the treatment of acute intractable tachyarrhythmia in children. Method　The clinical data of children with acute intractable tachyarrhythmia treated with TEAP (48 cases) or temporary cardiac pacing (6 cases) from January 2014 to December 2017 were retrospectively analyzed. Results　In the 48 cases aged 1 day to 13 years (28 males and 20 females) treated with TEAP, 25 cases had paroxysmal supraventricular tachycardia, in which there were 15 cases of rapid atrial flutter, 5 cases of atrial tachycardia and 3 cases of left ventricular idiopathic bundle branch reentrant tachycardia. The rates of successful cardioversion to sinus rhythm through TEAP were 84%, 80%, 20% and 100% respectively. In the 6 cases aged 2 to 10 years (1 male and 5 females) treated with temporary cardiac pacing, there were 5 cases of fulminant myocarditis and 1 case of noncompaction of the ventricular myocardium and their conditions were well controlled after treatment. Conclusion　TEAP and temporary cardiac pacing have good curative effect in the treatment of acute intractable tachyarrhythmia in children. However, temporary electricity therapy can only temporarily rectify the hemodynamic abnormality threatening the life of children, and active comprehensive treatment for the primary diseases should be carried out simultaneously.

Clinical analysis of empyema in 49 children

　YANG Zhiguo, ZHANG Ni, PEI Weina, WANG Haidong, CHEN Yongqian, LYU Haiyan, CUI Yimei

. 2018, 36(6): 456. doi:10.3969/j.issn.1000-3606.2018.06.013

Abstract ( 331 )

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Objective　To explore the diagnosis and treatment of empyema in children. Method　The clinical data of empyema in 49 children were reviewed and analyzed. Results　In the 49 cases (25 males and 24 females) aged 4.7±3.4 years, the common symptoms were fever, shortness of breath and coughing. There were 11 cases of positive blood culture, 17 cases of positive pleural fluid culture, 3 cases of positive blood and pleural fluid culture. Streptococcus pneumoniae was the most common pathogenic bacteria. All 49 patients were given systemic antibiotics and closed thoracic drainage. In addition, 26 cases were treated with urokinase and intrapleural fibrinolytic therapy and 6 cases were treated surgically. The prognosis was good and there was no death. Conclusion　Pneumococcal infection is most common in children with empyema. Systemic antibiotics plus closed thoracic drainage and urokinase are effective, and some require surgical treatment.

Analysis of GBA gene mutation in three families with Gaucher disease

　HE Ningxin, ZHANG Wenqian, ZHANG Jiyao, DONG Wei, LUO Qiang, WANG Hao, ZHAO Yamei

. 2018, 36(6): 459. doi:10.3969/j.issn.1000-3606.2018.06.014

Abstract ( 601 )

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Objective　To explore the significance of GBA gene mutation and gene detection in diagnosis of Gaucher disease. Method　The clinical data and genetic testing results of 3 probands from 3 unrelated Gaucher families and their family members were analyzed. Results　A compound heterozygous mutation of c.907C>A and c.1448T>C was found in the proband of the first family, which was inherited from parents respectively. Another complex heterozygous mutation of c.1174delC and c.1226A>G was found in the proband of second family, which was inherited from parents respectively, and the variant c.1174delC was a new mutation, which has not been reported in the literature according to the search by HGMD. The homozygous nucleotide variation of c.1342G>C and heterozygous nucleotide variation of c.1263_1317del was found in the proband of the third family and the c.1263_1317del heterozygous mutation was inherited from father. Conclusion　The mutation of GBA gene was the cause of Gaucher disease in these 3 families and Gaucher disease can be diagnosed by molecular genetics in clinic.

Familial short stature caused by ACAN gene mutation: a familial case report　

ZENG Ting, LIAO Linyan, LI Niu, WANG Jian, PENG Ji, GUO Yi, LI Honghui

. 2018, 36(6): 463. doi:10.3969/j.issn.1000-3606.2018.06.015

Abstract ( 1055 )

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　Objective　To explore the clinical phenotype and genetic variation of familial short stature. Method　The clinical data of a familial short stature pedigree in Guangxi Zhuang autonomous region were retrospectively analyzed. The diseasecausing gene was identified using targeted high-throughput sequencing combined with Sanger sequencing in May 2017. The related literature were searched and the relationship between the clinical phenotype and genotype of the ACAN gene mutation were summarized. Results　The two patients were brothers, one was 9-year and 10-month old boy and the other was 7-year-old boy. Both of them had short stature. Their parents were non-consanguineous marriage and both were 150 cm in height, with. Their uncle and grandpa are also short stature. Gene sequencing revealed a novel heterozygous variation c.6193delC (p.Gln2065Serfs*27) in exon 12 of ACAN gene in both brothers, which were inherited from their father. No report of this mutation was found by searching literature and databases. A total of 11 related articles in English were retrieved. Totally (including our study) 32 patients in 41 families were reported to have the pathogenic variants of ACAN gene, including 4 variants from Chinese children, but no such reports were found in Chinese literatures. The most common clinical manifestation is idiopathic short stature, which is mostly familial but could also be sporadic. Some children also suffered from osteoarthritis, disc herniation or degeneration. Most of the children had advanced bone age, but some of them were normal or even lagged. Treatment of postponing puberty by growth hormone combined with gonadotropin-releasing hormone analogues can effectively improve final height. Conclusion　Heterozygous mutation of ACAN gene can cause short stature in children and has significant familial genetic characteristics, and the clinical characteristics have no relationship with genotypes.

Relationship between methylenetetrahydrofolate reductase gene polymorphism and methotrexate toxicities in childhood acute lymphoblastic leukemia chemotherapy

. 2018, 36(6): 467. doi:10.3969/j.issn.1000-3606.2018.06.016

Abstract ( 386 )

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Objective　To evaluate the association between methylenetetrahydrofolate reductase (MTHFR) gene C677T polymorphism and susceptibility to methotrexate (MTX) adverse reaction in children with acute lymphoblastic leukemia (ALL) chemotherapy. Method　The data bases of The Cochrane Library, PubMed, EMbase, EMCC, OVID, CNKI, VIP and WanFang Data were searched for relevant articles published in English and Chinese up to March 2016. Two researchers independently screened literature, extracted data, and assessed bias risk in the included studies. The RevMan 5.3 and Stata 12 software were used to analyze the association between gene polymorphism and the adverse reaction of MTX chemotherapy with the recessive, dominance, co-dominance, addition and allele gene model respectively. Results　A total of 12 studies were included and all of them were case-control study, with 1419 cases in case group and 2188 cases in control group. The results of meta-analysis showed that the MTHFR gene polymorphism was unrelated to the untoward effect of neutropenia, thrombocytopenia, hemoglobin reduction, mucosal damage and liver function damage during MTX chemotherapy in children with ALL under the 5 analytical models. Under the co-dominance gene model, the association between MTHFR polymorphism C677T and overall adverse reaction of MTX was statistically significant (OR=1.39, 95%CI: 1.02~1.91, P=0.04). In the recessive gene model, the C677T polymorphism of MTHFR was associated with a reduced risk of gastrointestinal adverse reactions during MTX chemotherapy (OR=3.31, 95%CI: 1.03~10.59, P=0.04). In the dominance gene model, the C677T polymorphism of MTHFR was associated with a reduced risk of skin damage induced by MTX chemotherapy (OR=3.05, 95%CI: 1.25~7.41, P=0.01). Conclusion　There is no significant association between the C677T polymorphism of MTHFR and the adverse effects of MTX chemotherapy, but further studies with larger sample size are needed.

Research progress of exogenous pulmonary surfactant in the treatment of neonatal respiratory distress syndrome　

QIAN Wen

. 2018, 36(6): 476. doi:10.3969/j.issn.1000-3606.2018.06.017

Abstract ( 316 )

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Exogenous pulmonary surfactant (PS) has been widely applied in the treatment of neonatal respiratory distress syndrome (NRDS), and its curative effect was confirmed. However, there is still controversy about the dosage, timing of administration and the routes of administration. This article reviews the progress of the application of PS in NRDS in recent 3 years, and provides a basis for strategies of clinical diagnosis and treatment.

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