Journal of Clinical Pediatrics

Immune status and clinical characteristics of herpes virus antibody positive Mycoplasma pneumoniae pneumonia

CHEN Qiuyu, LU Min

Journal of Clinical Pediatrics. 2020, 38(1): 1. doi:10.3969/j.issn.1000-3606.2020.01.001

Abstract ( 449 )

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　Objective　To explore the immune status and clinical characteristics of herpes virus antibody positive Mycoplasma pneumoniae pneumonia (MPP). Method　The clinical data of 360 children aged 2 months to 16 years hospitalized with MPP from January 2015 to May 2017 were retrospectively analyzed. A total of 162 children with positive antibody to epsteinbarr virus (EBV), cytomegalovirus (CMV) or herpes simplex virus (HSV) were selected as the antibody positive group. Meanwhile, 198 children with negative EBV, CMV, and HSV antibodies hospitalized in the same period were enrolled in the control group. And the analysis and comparison were performed. Results　In 360 children (188 boys and 172 girls) with MPP, 162 children were positive for herpes virus IgM antibody, among whom 97 children (26.9%) were positive for EBV IgM, 39 children (10.8%) were positive for CMV IgM, and 97 children (26.9%) were positive for HSV IgM. All the children were not given antiviral treatment, and the symptoms were relieved after the treatment. The proportions of severe MPP, lobar-like consolidation and respiratory failure in antibody positive group was higher than those in control group (P<0.05). The levels of serum IgM, CD4+T cells, CD8+T cells, lymphocytes, NK cells, WBC, Lactate dehydrogenase (LDH) and alanine aminotransferase (ALT) were all higher than those in control group (P<0.05). The duration of macrolide antibiotics were longer than those in control group and the rate of hormone use was higher than that of control group (P<0.05). In MPP children with two positive IgM antibodies, the serum IgM and triglyceride levels were higher than those with one positive IgM antibody, and the difference was statistically significant (P<0.05). Compared with MPP children with one positive IgM antibody, those with three positive IgM antibodies had longer hospital stay, longer fever time and longer duration of macrolides antibiotics treatment, higher levels of IgM and ALT, and higher incidence of severe MPP, and differences were statistically significant (P<0.05). Conclusions　MPP children with positive IgM to herpes virus have strong inflammatory response, severe clinical symptoms, long course of disease and many complications, and thus need longer treatment.

Application of bronchoscopy and alveolar lavage in the treatment of recurrent wheezing diseases in young children

WU Jinfeng, ZHANG Xinxing, GU Wenjing, et al

Journal of Clinical Pediatrics. 2020, 38(1): 6. doi:10.3969/j.issn.1000-3606.2020.01.002

Abstract ( 373 )

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Objective　To explore the value of bronchoscopy and bronchoalveolar lavage in the diagnosis and treatment of recurrent wheezing diseases in young children. Method　The results of bronchoscopy and bronchoalveolar lavage fluid (BALF) were collected from 415 children aged 1-36 months with recurrent wheezing. Seven common respiratory viruses were detected by direct immunofluorescence assay. Mycoplasma pneumoniae, Chlamydia pneumoniae and human bocavirus were detected by fluorescence quantitative PCR. Human rhinovirus and human metapneumovirus were detected by RT-PCR. The bacterial culture and cell morphology examination were also performed. During the same period, 106 non-wheezing children who were hospitalized for bronchopneumonia or lobar pneumonia with atelectasis and underwent bronchoscopy and alveolar lavage were selected as the control group. The BALF was collected for morphological examination. Results　Among the 415 wheezing children (317 males, 98 females), endobronchial inflammation was observed under bronchoscopy in 405 cases (97.6%), followed by tracheal softening in 69 cases (16.6%). Mycoplasma pneumoniae was the most common pathogen detected in BALF (159 cases, 38.3%), followed by bacteria (74 cases, 17.8%) that mainly were Streptococcus pneumoniae and Haemophilus influenzae and 69 cases of virus (16.6%) that mainly were human bocavirus. The proportion of neutrophils and eosinophils in BALF in children with recurrent wheezing was higher than that in non-wheezing children, while the proportion of phagocytic cells was lower than that in non-wheezing group (all P<0.05). Conclusion　Bronchoscopy can provide effective help for the early diagnosis and treatment to recurrent wheezing in children.

Application of continuous positive airway pressure in children with congenital heart disease combined with severe pneumonia and cardiac insufficiency

WANG Zhili, LUO Siying, YI Qian, et al

Journal of Clinical Pediatrics. 2020, 38(1): 10. doi:10.3969/j.issn.1000-3606.2020.01.003

Abstract ( 263 )

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Objective　To explore the role of continuous positive airway pressure (CPAP) in children with congenital heart disease combined with severe pneumonia and cardiac insufficiency. Methods　The clinical data of 130 hospitalized children with congenital heart disease complicated with severe pneumonia and cardiac insufficiency were retrospectively analyzed. According to the treatment measures, the children were divided into CPAP group and the control group. The differences in respiratory rate (RR), heart rate (HR) and left ventricular ejection fraction (EF) before and after treatment were analyzed. Results　There were 58 cases in CPAP group and 72 cases in control group. There was no difference in sex, age, weight, main clinical symptoms, important signs, imaging manifestations, blood gas index before treatment, RR, HR and treatment measures for cardiac insufficiency between the two groups (all P>0.05). At 2, 6 and 24 hours after treatment, RR and HR of the two groups decreased compared with those before treatment, and the difference was statistically significant (P<0.05). The RR and HR of CPAP group were lower than those in the control group at 2, 6 and 24 hours after treatment, and the difference was statistically significant (P<0.05). Cardiac function was monitored in 42 children before and after treatment, including 17 in the CPAP group and 25 in the control group. Before treatment, there was no significant difference in EF between the two groups (P>0.05). However, the EF of the CPAP group was higher than that of the control group after treatment, and the difference was statistically significant (P<0.05). Conclusions　CPAP can improve the clinical symptoms and shorten the length of hospital stay in children with congenital heart disease complicated with severe pneumonia, and may also improve cardiac function.

Clinical analysis of congenital pulmonary airway malformation in 20 children

LIU Xinfeng, LIU Xiaojuan, ZHAO Zhimiao, et al

Journal of Clinical Pediatrics. 2020, 38(1): 16. doi:10.3969/j.issn.1000-3606.2020.01.004

Abstract ( 349 )

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Objective　To explore the clinical characteristics of congenital pulmonary airway malformation (CPAM) in children. Methods　The clinical data of CPAM in 20 children from January 2016 to December 2018 were analyzed retrospectively. Results　In the 20 children (12 males; 8 females) aged 30.4±7.6 months in average, the course of the disease ranged from 5 days to 3 years. Seventeen patients presented with recurrent cough, wheezing and fever, one presented with chest distress, and two presented with dyspnea. Bilateral lesions were found in 4 cases. There were 16 cases with unilateral lesion including 7 cases of left involvement and 9 cases of right involvement. Two children were complicated with cardiac malformations, and one had the triatrial heart. High resolution CT examination of the lung revealed large cystic type in 14 patients, mediastinal displacement in all patients , and small cystic type in 6 patients. Postoperative pathological classification showed 14 cases of type I, 5 cases of type II and 1 case of type IV. All the children received surgical treatment, and the postoperative follow-up time varied from 1 to 24 months. All children recovered well. Conclusions　CPAM is rare and can be combined with other system deformities which can be found by high-resolution CT of the lung. The confirmation of diagnosis of CPAM should be based on the histopathological examination, and the prognosis is good after the operation.

Concurrent multiple intracranial and intramedullary tuberculomas with tuberculous meningitis and miliary pulmonary tuberculosis: a case report and literature review

ZHU Hui, SHU Xiaomei

Journal of Clinical Pediatrics. 2020, 38(1): 19. doi:10.3969/j.issn.1000-3606.2020.01.005

Abstract ( 260 )

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Objective　To explore the clinical characteristics of multiple tuberculosis infection in the central nervous system. Methods　The clinical data of concurrent multiple intracranial and intraspinal tuberculomas with tuberculous meningitis and miliary pulmonary tuberculosis in one child were retrospectively analyzed and the related literature was reviewed. Results　An 8-year-old boy had a miliary distribution of cerebral tuberculomas. The number of lesions was more than 30, involving cerebral hemisphere, cerebellar hemisphere, thalamus, brain stem, and eye bundle. In addition, the child had intramedullary tuberculomas, tuberculous meningitis and miliary pulmonary tuberculosis. The child recovered after one year of anti-tuberculosis treatment. Seven cases of intracranial and intramedullary tuberculomas were found by a literature search, including one case with optic bundle involvement and one case with tuberculous meningitis. Six cases had subacute or chronic onset and 1 case had acute onset. None of the 7 children had significant manifestations of cerebral tuberculosis, but all of them showed the signs of spinal cord compression. Five children were complicated with acute miliary tuberculosis (or tuberculosis). One child was diagnosed with tuberculous meningitis, and brain and spinal tuberculosis appeared after treatment. One patient developed new tuberculoma during treatment. All children recovered well after the anti-tuberculosis treatment. Conclusions 　The early diagnosis of brain and spinal tuberculoma needs to combine clinical manifestations, imaging features, evidence of extracranial tuberculosis and effective anti-tuberculosis treatment. Early diagnosis and timely treatment can improve the prognosis.

Clinical analysis of nucleoside analogues in prevention and treatment of hepatitis B virus reactivation in children receiving chemotherapy or immunosuppressant

MA Yulan, XU Hongmei

Journal of Clinical Pediatrics. 2020, 38(1): 23. doi:10.3969/j.issn.1000-3606.2020.01.006

Abstract ( 244 )

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Objective　To explore the therapeutic effect of nucleoside analogues (NAs) on reactivation of HBV in children with chronic hepatitis B virus (HBV) infection treated by chemotherapy or immunosuppressant, and to observe the preventive and therapeutic and preventive effect of antiviral drugs given before treatment on reactivation of HBV. Methods Forty-one children with chronic HBV infection who received chemotherapy or immunosuppressive therapy from January 2009 to December 2018 were selected as the study subjects. The children who had chemotherapy or immunosuppressant therapy but did not receive NAs prophylactic antiviral therapy were included into the control group. The children who started to use NAs 1~2 weeks before chemotherapy or immunosuppressive drugs and continued for at least 3 months were included into the prevention group. The reactivation of HBV and liver function were observed in two groups. Results　Among the 41 children, 18 had HBV reactivation, including 1 (6.3%) in the prevention group (n=16) and 17 (68.0%) in the control group (n=25), and the incidence of reactivation was significantly different between the two groups (χ2=18.72, P<0.001). In the prevention group, one child had HBV reactivation due to control use of NAs. In the control group, 11 children were treated with NAs after HBV reactivation, among whom 9 had decreased HBV DNA and 2 had increased HBV DNA after secondary infection. Conclusions　All children with chronic HBV infection who need chemotherapy or immunosuppressant should be routinely screened for HBV serological markers, HBV DNA and liver function before treatment. Prophylactic use of NAS before HBV reactivation and timely standardized use of NAs in children who have already had HBV reactivation are of great significance in reducing the occurrence of HBV reactivation, improving clinical prognosis, reducing HBV replication and reducing liver function damage.

Follow-up and intervention of infants at high risk of hepatitis B in Changzhou

MIAO Jinjian, JIANG Xiaoqing, XIE Xinbao

Journal of Clinical Pediatrics. 2020, 38(1): 28. doi:10.3969/j.issn.1000-3606.2020.01.007

Abstract ( 244 )

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Objective　To investigate the immunological interruption effect on mother-to-child transmission in children with high risk of hepatitis B virus (HBV) infection. Methods　The clinical data of 450 children at high risk of HBV infection from January 1, 2012 to December 30, 2017 were analyzed retrospectively. Results　Four hundred forty five children (238 boys; 212 girls) were followed up until 2.6±1.8 years old. Eight children showed positive hepatitis B surface antigen (HBsAg), indicating chronic HBV infection. Titers of anti-HBs were <10 mIU/mL in 68 cases, 10~100 mIU/mL in 171 cases, and ≥ 100 mIU/mL in 203 cases. A total of 180 children with weak response or no/low response to the first vaccination were given intensive hepatitis B vaccination, and 176 cases (97.78%) had the titer of anti-HBs >100 mIU/mL at reexamination. According to the umbilical cord blood HBV-DNA load (≤1.0×102 IU/mL, 1.0×102-1.0×104 IU/mL, 1.0×104-1.0×106 IU/mL and >1.0×106 IU/mL), all children were divided into 4 groups, and the immune response rates of 4 groups were 99.8%, 60%, 46.7%, and 40%, respectively, and there were statistically differences among the groups (P<0.001). Among the 8 patients who failed to block mother-to-child transmission of HBV, 7 had high HBV DNA load in umbilical cord blood, among whom the HBV DNA load was 1.0×103-1.0×105 IU/mL in 4 patients and >1.0×105 IU/mL in 3 patients. Conclusion　The combination of immunoglobulin and hepatitis B vaccine can effectively interrupt the mother-to-child transmission of HBV. The failure of immune interruption is related to HBV DNA load in umbilical cord blood. Strengthened vaccination of hepatitis B vaccine can significantly increase the titer of anti -HBs.

Clinical analysis of kidney disease combined with posterior reversible encephalopathy syndrome in 6 children

WANG Caiyun, SONG Dan, SONG Chundong, et al

Journal of Clinical Pediatrics. 2020, 38(1): 31. doi:10.3969/j.issn.1000-3606.2020.01.008

Abstract ( 288 )

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Objective　To explore the clinical characteristics of renal disease with posterior reversible encephalopathy syndrome (PRES) in children. Methods　The clinical data of 6 children confirmedly diagnosed of kidney disease with PRES from 2015 to 2018 were retrospectively analyzed, and the relevant literature was reviewed. Results　In 6 children (4 boys; 2 girls) aged from 3 to 14 years, there were 2 cases of nephrotic syndrome. Two cases of purpura nephritis, one case of Henoch-Sch?nlein purpura and one case of lupus nephritis, All had a history of hormone and immunosuppressant therapy. Clinical manifestations included acute onset in all, convulsions, loss of consciousness, elevated blood pressure, abnormal mental behavior, vomiting, headache, and visual disorders. The imaging findings were characterized by reversible white matter abnormalities, mostly located in the posterior hemisphere. Five children recovered to their pre-morbid state and one died. Conclusions　PRES is common in children with renal disease treated with hormones and immunosuppressants, and the prognosis is generally good, but not completely reversible.

Diagnosis and treatment of hyponatremia in children with systemic lupus erythematosus

LIU Ping, WEI Lei, TIAN Ming, et al

Journal of Clinical Pediatrics. 2020, 38(1): 36. doi:10.3969/j.issn.1000-3606.2020.01.009

Abstract ( 347 )

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　Objective　To explore the clinical characteristics and influencing factors of hyponatremia in children with systemic lupus erythematosus (SLE). Methods　The clinical data of 83 children with SLE from January 2011 to January 2019 were analyzed retrospectively. According to the blood sodium value, they were divided into hyponatremia group and nonhyponatremia group. The clinical manifestations and laboratory examination results of the two groups were compared. Results Compared with non-hyponatremia group, children in hyponatremia group had a higher incidence of renal lesions, obviously elevated levels of blood sedimentation, C-reactive protein, interleukin 6 (IL-6) and IL-1 levels, and increased SLE disease activity index (SLEDAI), and reduced levels of serum chlorine, albumin and complement C3, and the differences were statistically significant (all P<0.05). There was no difference in white blood cell count, aspartate transaminase, lactate dehydrogenase, urea nitrogen, and creatinine (all P> 0.05). Conclusions　SLE combined with hyponatremia in children is more likely to develop kidney damage. Hyponatremia may be related to severe inflammatory response.

Clinical characteristics of hyperprolinemia

WANG Yanyun, SUN Yun, CHENG Wei, et al

Journal of Clinical Pediatrics. 2020, 38(1): 40. doi:10.3969/j.issn.1000-3606.2020.01.010

Abstract ( 308 )

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Objective　To explore the clinical characteristics of hyperprolinemia. Method　The clinical data of children suspected of hyperprolinemia from November 2013 to April 2019 were analyzed retrospectively. Results　A total of 15 children (5 boys and 10 girls) were found at least twice to have blood proline levels >400 μmol/L. In 3 patients diagnosed with hyperprolinemia by genetic testing, two were neonates and one was an 11-year-old female. Twelve cases were suspected of hyperprolinemia. In 6 cases, proline gradually decreased to the normal range during follow-up at 3-6 months after birth, and in another 6 cases, follow-up was interrupted and genetic testing was refused. Conclusions　For those whose proline are ≥1000 mol/L or at 400~1000 mol/L at the initial screening but still remains high at the age of 6 months, genetic testing should be improved as soon as possible, and follow-up should be strengthened.

Influence of coagulation dysfunction on prognosis of Staphylococcus aureus sepsis in children

YI Qian, LI Yuanyuan, WU Yi, et al

Journal of Clinical Pediatrics. 2020, 38(1): 44. doi:10.3969/j.issn.1000-3606.2020.01.011

Abstract ( 274 )

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Objective　To explore the effect of coagulation dysfunction on the prognosis of Staphylococcus aureus sepsis in children. Methods　The clinical data of Staphylococcus aureus sepsis in 130 children from January 2014 to February 2018 were analyzed retrospectively. According to the outcome, the patients were divided into survival group and death group. Univariate and multivariate logistic regression analysis were carried out, and ROC analysis was performed for related indicators of coagulation function. Results　In the 130 patients (68 boys; 62 girls) with a median age of 54.0 months (10.7~129.8 months), 34 died and case fatality rate was 26.2%. The detection rate of methicillin-resistant Staphylococcus aureus, procalcitonin, C-reactive protein, platelet distribution width, activated partial thromboplastin time, thrombin time, D-dimer level, the proportion of prothrombin time ≥17s in the death group were significantly higher than those in the survival group, and the platelet count and fibrinogen were significantly lower than those in the survival group (all P<0.05). Multivariate logistic regression analysis showed that primary blood flow infection, methicillin-resistant Staphylococcus aureus infection, prothrombin time (PT) extension, increased D-dimer and thrombocytopenia were independent risk factors for death (all P<0.05). When PT was 17s, D-dimer was 5.9 mg/L and platelet was 50×109/L, area under the ROC curve (AUC) was 0.853, 0.870 and 0.889, respectively. The sensitivity of predicting death was 88.24%, 88.24% and 52.94%, and the specificity was 83.33%, 83.33% and 97.92%, respectively. When combined the above three indicators of coagulation function, the ROC analysis showed that the sensitivity and specificity of predicting death were 85.29% and 94.79%, respectively, and the AUC was 0.936. Conclusions　When prothrombin time ≥17s, D-dimer ≥5.9 mg/L, platelets ≤50×109/L, the risk of death in children with Staphylococcus aureus sepsis increased, and the value of combination of three indicators to predict the death of children was higher.

Interventional therapy and follow-up analysis of congenital heart disease complicated with left ventricular non-compaction in children

WANG Yefeng, HU Yuan, YANG Zhou, et al

Journal of Clinical Pediatrics. 2020, 38(1): 49. doi:10.3969/j.issn.1000-3606.2020.01.012

Abstract ( 246 )

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　Objective　To explore the safety and prognosis of interventional therapy for congenital heart disease (CHD) complicated with left ventricular non-compaction (LVNC) in children. Methods　The clinical data of congenital heart disease complicated with myocardial densification in children treated from January 2016 to October 2017 were retrospective analyzed. The changes of non-compacted layer/compacted layer (N/C) ratio and cardiac function parameters measured by color Doppler echocardiography before and after cardiac interventional therapy were compared. The complications were recorded. Results A total of 25 children (9 boys and 16 girls) were included and the median age was 1 year (0.14~8 years). There were 22 cases of patent ductus arteriosus, 2 cases of atrial septal defect and 1 case of ventricular septal defect. The differences in left ventricular end-diastolic diameter (LVEDD) -Z value and N/C ratio at pre-operation and at postoperative 1, 6 and 12 months were statistically significant (all P<0.05), with the lowest value at 12 months after operation. The LVNC basically disappeared during follow-up in 6 children. However, there was no significant difference in left ventricular ejection fraction (LVEF) between these time points (all P>0.05). There was no correlation among N/C ratio, LVEDD -z value and LVEF value before and at 1, 6 and 12 months after operation (all P>0.05). The median postoperative follow-up was 19 months (12-27 months), and no adverse cardiovascular events or arrhythmias occurred during the follow-up. Conclusions　For Children with CHD complicated with LVNC, when no contraindications exist, interventional therapy is recommended to reduce left to right shunt and cardiac overload. It is conducive to left ventricular myocardial development and ventricular reverse remodeling.

Application of transesophageal atrial pacing in children with unexplained tachycardia

SHI Xiaosong, GAO Jie, YANG Fang

Journal of Clinical Pediatrics. 2020, 38(1): 53. doi:10.3969/j.issn.1000-3606.2020.01.013

Abstract ( 224 )

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　Objective　To explore the clinical effect of transesophageal atrial pacing (TEAP) in the diagnosis of unexplained tachycardia in children. Methods　The results of TEAP in 28 children with unexplained tachycardia diagnosed and treated from September 2017 to August 2019 were retrospectively analyzed and were compared with the intracardiac electrophysiological study. Results　A total of 28 children (19 boys; 9 girls) with an average age of 10.8±3.7 years were treated with TEAP . There were 15 cases of atrioventricular reentrant tachycardia (AVRT), 8 cases of atrioventricular node reentrant tachycardia (AVNRT), and 2 cases of intra-atrial reentrant tachycardia (IART), and a diagnostic rate was 89.29% (25/28). The ectopic tachycardia was not induced in 3 cases. Intracardiac electrophysiological study (IEPS) was performed in 21 patients. One patient had no ectopic tachycardia induced by TEAP and was diagnosed with idiopathic right ventricular outflow tract ventricular tachycardia (RVOT-VT) by IEPS. One case of left bypass atrioventricular reentrant tachycardia (LP-AVRT) was misdiagnosed of atrial tachycardia (AT). The diagnosis results of other patients using IEPS were consistent with TEAP, and a coincidence rate was 90.48% (19/21). Conclusions　The diagnosis of tachycardia by TEAP is highly consistent with the results of IEPS. TEAP is recommended for children with clinically unexplained tachycardia, so as to clarify the diagnosis and classification of tachycardia and provide evidence for further diagnosis and treatment.

Multi-system pseudohypoaldosteronism type Ⅰ in neonates: a report of 2 cases and literature review

XU Zhen’e, HUA Ziyu, ZHU Min, et al

Journal of Clinical Pediatrics. 2020, 38(1): 56. doi:10.3969/j.issn.1000-3606.2020.01.014

Abstract ( 226 )

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　Objective　To explore the clinical characteristics of multi-system pseudohypoaldosteronism type Ⅰ(PHA1) in neonates. Methods　The clinical data of PHA1 in 2 neonates were reviewed and the related literature was reviewed. Results Two newborns, one boy and one girl, showed dehydration, poor response and feeding difficulties. One patient was clinically cured and the other died. A compound heterozygous mutation of SCNN1G gene was found by gene detection. A total of 40 PHA1 children including 2 cases in this study were reported in literatures. There were 19 boys and 21 girls, the age at onset ranged from 7 to 21 days and the average age at onset was 9.4±8.28 days. Six children (15.0%) had a family history of similar symptoms. All the 40 neonates (100%) had poor response, hyperkalemia and hyponatremia. Feeding difficulties (loss of appetite or difficulty in breastfeeding) were found in 38 cases (95.0%), vomiting in 21 cases (52.5%), diarrhea in 20 cases (50.0%) and rash in 15 cases (37.5%). Acidosis was found in 38 cases (95.0%), dehydration in 37 cases (92.5%), and poor weight gain in 37 cases (92.5%). Among them, 34 cases had gene detection and different types of mutations in the epithelial sodium channel (ENaC) gene were found. Hemopurification was performed in 21 cases (52.5%). Four patients (10.0%) died after abandoning treatment, and 4 were cured clinically. The disease was stable in 18 cases and unstable in 14 cases. Conclusions　The early manifestations of PHA1 are non-specific, and some of them have similar family history. Blood aldosterone, renin and gene examination should be performed as soon as possible in suspected patients, and early diagnosis can improve the prognosis.

Severe congenital neutropenia: a report of 2 cases and literature review

ZHOU Junli, HUANG Honglin, WEN Fengyun, et al

Journal of Clinical Pediatrics. 2020, 38(1): 61. doi:10.3969/j.issn.1000-3606.2020.01.015

Abstract ( 313 )

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Objective　To explore the clinical and gene mutation characteristics of rare severe congenital neutropenia. Method　The clinical data of severe congenital neutropenia in 2 children diagnosed by gene detection were analyzed retrospectively, and the relevant literature was reviewed. Results　Two children, one boy aged 1 year and 9 months and one girl aged 2 years old, had a history of recurrent infection. The boy’s lowest absolute neutrophil count (ANC) was 0.17×109/ L, accompanied by developmental abnormalities. The whole exon gene detection showed two heterozygous mutations in VPS13B gene, a frameshift mutation, c.8531delG (p.sper2844fs), in Exon47 from the father and the intron mutation of intron 38(c.6940+1G>T) from the mother. In Combination with the clinical manifestations, the boy was diagnosed with Cohen's syndrome. The girl’s ANC fluctuated around 0.4 × 109 / L for a long time. The whole exon gene detection revealed two heterozygous mutations in CSF3R gene, the intron mutations of intron3 (c.64+5G>A) from the father, and a frameshift mutation c.690delC (p.Met231Cysfs *32) in Exon7 from the mother. In combination with clinical manifestations, the girl was considered to have severe congenital neutropenia type 7 (SCN7). The treatment of granulocyte colony-stimulating factor (G-GSF) was ineffective, but granulocyte macrophage colony stimulating factor (GM-CSF) was effective. Conclusions　Severe congenital neutropenia can lead to severe or recurrent infections, which are the characteristic manifestations of certain syndromes. Some children may change to myelodysplastic syndrome or acute myeloid leukemia, requiring long-term follow-up and treatment. Genetic testing is helpful for diagnosis.

Phytosterolemia caused by ABCG5 gene mutation: a case report

SUN Yafeng, WANG Xin, CAI Wenjuan, et al

Journal of Clinical Pediatrics. 2020, 38(1): 65. doi:10.3969/j.issn.1000-3606.2020.01.016

Abstract ( 469 )

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Objective　To explore the clinical and gene variation characteristics of phytosterolemia caused by ABCG5 gene mutation. Method　The clinical data of phytosterolemia caused by ABCG5 gene mutation in a child was retrospective analyzed. Results　A boy, aged 1 year and 3months old, began to appear linear xanthan in the skin folds of wrist and ankle joints at about 4 months old, and then gradually aggravated. Serum sterol spectrum revealed that the levels of rapeseed sterol and dihydrocholesterol increased significantly. Whole exon detection of ABCG5 gene showed splice site mutation at c.904+1(IVS7) G>A and non-coding region mutation at c.-76 (exonl) C>T. After strictly limiting plant sterol intake, reducing animal sterol intake and treating with cholestyramine for 40 days, the level of plant sterol was significantly lower than before. Conclusion　ABCG5 mutation can cause phytosterolemia. Timely diagnosis, drug treatment and diet control can improve the prognosis.

Advances in research on cerebral protective effects of granulocyte colony-stimulating factor in neonatal hypoxic 　ischemic encephalopathy

XU Mengjie, DU Jiang

Journal of Clinical Pediatrics. 2020, 38(1): 69. doi:10.3969/j.issn.1000-3606.2020.01.017

Abstract ( 229 )

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　Granulocyte colony-stimulating factor is an activator of bone marrow stem cells and is currently mainly used to prevent and treat leukopenia caused by radiotherapy or chemotherapy of tumors. Now there is increasing evidence that granulocyte colony-stimulating factors exert important neuroprotective functions to the central nervous system through a variety of signaling pathways. In animal experiments, granulocyte colony-stimulating factor has been shown to play a protective role in neonatal hypoxic-ischemic encephalopathy by anti-apoptotic effect, anti-inflammatory effect, stabilizing blood-brain barrier, inhibiting hypothalamic-pituitary-adrenal axis activity, promoting neurovascular regeneration and mobilizing hematopoietic stem cells. This paper reviews the signaling pathway and brain protective mechanism of granulocyte colony stimulating factor in the treatment of neonatal hypoxic-ischemic encephalopathy, and the methods of granulocyte-colony stimulating factor combined with other drugs in the treatment of neonatal hypoxic-ischemic encephalopathy.

Progress on the relationship between HefABC system and Helicobacter Pylori resistance 　

HE Chunmeng, HUANG Ying

Journal of Clinical Pediatrics. 2020, 38(1): 74. doi:10.3969/j.issn.1000-3606.2020.01.018

Abstract ( 162 )

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