Objective: To verify the source of brain injury in premature infants with twin-twin transfusion syndrome (TTTS) from fetal period or postnatal factors. Methods: A prospective cohort study with TTTS twins was performed whose mothers received fetal ultrasound before the delivery at 34 weeks, and postnatal brain ultrasound was performed within 2 d at the same hospital by ultrasound to diagnose intracranial hemorrhage and(PIVH) cystic periventricular leukomalacia (PVL). The brain injury was scored on fetal and postnatal ultrasounds. The pregnant women with twins died and chromosomal abnormality of one of the twins were excluded.Results: A total of 94 fetuses of the 47 pregnant women with TTTS were analyzed in the study. The median age of the pregnant women was 31 (18-46) years old, and the TTTS were diagnosed between 16 and 28 weeks of gestational age, and the gestational age of 28 ~ 33 + 5 weeks was terminated. 7, 9, 17, 8 and 6 cases were in Quintero Ⅰ, Ⅱ, Ⅲ, Ⅳ and Ⅴ periods respectively, in stage Ⅴ 6 cases of fetal death happened, the partners of 6 cases occurred PIVH and PVL. In all, 19/88 (21.6%) fetuses had brain injury seen on fetal ultrasound, 5 recipients, 14 donors(26.3% vs 73.6 %, P＜ 0.05). 17 fetuses were with Quintero Ⅲ, Ⅳand Ⅴ brain injury and 2 fetuses with Quintero Ⅰ,Ⅱbrain injury (30.3% vs 6.2 %, P＜0.05). Twins of 13/47 cases(27.7%) were not found new patients with brain injury after the treatment of amniotic fluid reduction at 19 ~ 28 weeks of gestation. The gestational age of all 88 cases was (30.5± 4.5) weeks. Recipients weight was (1 607±438) g, donors (1 257±403) g, 4 cases died caused by neonatal asphyxia. In all, 24/84 infants (28.6%) had brain injury seen on postnatal ultrasound. 9 recipients, 15 donors were found (37.5% vs 62.5 %, P＜0.05). There were 5 cases with PIVH Ⅰ, all of them were diagnosed without PVL. PIVH Ⅱ, 11 cases involved fetal stage, and in neonatal stage 4 cases were increased ,including 1 case with PVL. 3 cases developed to PIVH Ⅲ with soften cerebral white matter, no death case. During PIVH Ⅲ, 5 cases in fetal stage were combined with PVL, there were 5 cases at neonatal stage, 3 cases developed from PIVH Ⅱ , and 1 case died. All of the 3 fetuses involved PIVH Ⅳ were with PVL, and 2 cases in neonatal stage were caused by PVIH Ⅲ with PVL, and died.Conclusion: The risk of cerebral injury and neurologic morbidity increased in fetuses and infants TTTS. Severe cerebral lesions detected in TTTS included cystic periventricular leukomalacia (PVL), severe intraventricular hemorrhage (IVH). In view of the increased risk of cerebral injury, cranial ultrasound scans should be performed routinely in all TTTS survivors at birth.

Objective: To determine the reliability and validity of North Star Ambulatory Assessment (NSAA).Methods: Inclusion criteria: Children diagnosed by gene detection or muscle biopsy as DMD and accepted functional assessment in Childeren's Hospital of Fudan University from January 2014 to January 2016,being able to walk more than ten meters independently,and in addition ,without severe cognitive retardation were recruited. Twenty patients were scored by two different physical therapeutists at the same time to detect inter-rater reliability. Sixteen patients were scored the second time 3-7 days after the first assessment by the same physical therapeutist to detect test-retest reliability.Relate ageneral category encording way of International Classification of Functioning，Disability and Health-Child and Youth version(ICF-CY) and project concept of NSAA were used to determine content validity of NSAA. Criterion related validity analysis was performed by analyzing the correlation between NSAA scores of 143 children and 6 minutes walking distance(6MWT).Results: The reliability analysis of the different test results of two therapists on twenty children showed that the NSAA raw scores and linear scores had excellent inter-rater reliability（ICC=0.96，0.97）; 16 boys were assessed by the same therapeutist twice with an interval of 3~7 days and the results showed that raw and linear scores of NSAA had great test-retest reliability（ICC=0.96）;Twenty linkages were made between seventeen items of NSAA and eight codes of ICY-CY,all of the eight codes belonged to d4(mobility), which meant that contents of NSAA evaluation mainly focused on mobility of DMD patients.The NSAA raw scores and linear scores of all 143 boys and 6MWT, had a fair degree of relationship between the two measures(r=0.40 and r=0.38).Conclusion: Chinese version of NSAA has good psychometric properties in test-retest reliability and inter-rater reliability in both raw and linear scores. Combined with other measurements, NSAA may effectively evaluate the activity of the patients with DMD in China.

Objective: To investigate the value of IVIM double exponential parameters in differentiating the benign and malignant pediatric abdominal tumors by use of the method of IVIM DW-MRI. Methods: Taking the pathology of pediatric abdominal tumor operation specimens as the golden standard, patients were assigned to malignant group, benign solid group, borderline group and benign cystic group, and the IVIM DW-MRI detection was performed as the standard to be detected within one week before the operation, and routine MRI (T1W, T2W, CE-T1W) and DWI sequence examination were performed for the suspected abdominal tumor, which could not be confirmed as the benign tumor. Then the b value range of 0~800 s·mm-2 was chosen, and the ADC value was obtained by the software calculation, and the tumor size was delineated by use of ROI tumor profile method, and the D, D* and f values were calculated.Results: 85 cases of children with abdominal tumor (98 masses) were included in the analysis of this study and there were 43 cases of male patients with the average age of 4.4 years old; malignant group (52 cases, 62 masses), borderline group (7 cases, 7 masses), benign solid group (21 cases, 24 masses), benign cystic group (5 cases, 5 masses); and the average value of ROI was 12.9(1.3~26.1)cm2. And for ADC, D and D* values, they showed the lowest in the malignant group and increased successively in the borderline group, benign solid group and benign cystic group, which had statistically significant difference; the differences of ADC, D and D* values between the malignant group and non-malignant (benign solid, borderline and benign cystic) groups had statistical significance; the cutoff identifying malignant and benign solid tumors was 1 367, 1 056 and 1 605 ×10-6mm2·s-1, respectively, and the identifying specificity for ADC was higher (85.5%), and the identifying sensitivity for D value was higher (83.3%), and the cutoff identifying malignant and solid tumors (benign solid plus borderline), malignant and non-malignant (benign solid plus borderline plus benign cystic) was 1 173, 1 014 and 1 634×10-6mm2·s-1, respectively; the specificity for ADC and D values identifying malignant and solid tumors (benign solid plus borderline) was better (87.1% and 83.9%), and the specificity for ADC, D and D* values identifying malignant and non-malignant (benign solid plus borderline plus benign cystic) was all better (88.9%,86.1% and 80.6%). Conclusion: The ADC and D values in the IVIM DW-MRI had good diagnostic value in identifying pediatric abdominal benign and malignant tumors.

Objective: To assess the efficacy and safety of administration of PS via thin catheter.Methods: Databases including Pubmed, Embase, Cochrane Library, Wanfang Data, CNKI, and JAMA from inception to August 6, 2017 were searched for RCTs about administration of PS via thin catheter, combining with manual retrieval method. Preterm neonates with or threatened by NRDS were given PS via thin catheter in intervention group and via intubation method in control group. Mortality during hospitalization, invasive mechanical ventilation rate in 72 h and during hospitalization were considered as the primary results, meanwhile, the rate of failure of administration of PS in first attempt, PS reflux, repetition of PS administration, serious complications and the duration of supplemental oxygen, the duration of invasive and noninvasive mechanical ventilation were also observed. Jadad scale was used to assess the quality of the included studies. For allocation concealment, the rating standard made by Schulz was used. A meta-analysis was conducted with STATA 14.0 software to sum up the data extracted from the included studies, I2 test was performed to assess the heterogeneity among the studies and Peter's test was used to assess whether publication bias existed.Results: Ultimately, 9 studies scored 3 points according to Jadad scale with allocation concealment were included in the study. Nasal CPAP was used after giving PS via thin catheter in intervention group, whereas PS was given by intubation method in control group, after that invasive mechanical ventilation was carried out in 2 studies and nasal CPAP in the other 7 studies. ①The meta-analysis demonstrated that administration of PS via thin catheter reduced the need for invasive mechanical ventilation in 72 hours (OR=0.570; 95%CI: 0.387-0.840, P=0.005) compared with the intubation method, whereas the mortality during hospitalization and the need for invasive mechanical ventilation during hospitalization were not significantly different. ②The incidence of BPD and pneumothorax was lower in experimental group than control group (OR=0.653; 95%CI: 0.458 -0.932, P=0.019) and (OR=0.565; 95%CI: 0.349-0.915, P=0.020), respectively. However, PS reflux was more frequent in thin catheter group (OR=3.038; 95%CI: 1.622-5.690, P= 0.001). No significant differences were found in other results. Conclusion: As an alternative way of surfactant administration, thin catheter method may reduce the need for mechanical ventilation in 72h and the occurrence of BPD and pneumothorax, but PS reflux seems to be more frequent. Further researches are needed in the future.

Objective: To evaluate whether the skeletal age assessed by Greulich-Pyle (GP), Chinese human wrist development standard CHN (CHN) and Chinese Wrist Standard - Chinese 05 (TW3-C RUS) will affect clinicians' judgment of skeletal maturity. Methods: Aged 3 to 17 children's left anteroposterior X-ray films were included for short stature, early puberty or suspected growth and development issues, and those of the children who suffering from metabolic genetic, growth disorders, osteochondral disease and had received growth hormone treatment were excluded. Each of the X-ray films was evaluated in three methods by a graduate student who had been trained in skeletal age assessment. Constructing limits of agreement were made by Bland-Altman Method.Results: 567 cases (269 boys, 298 girls) of left anteroposterior radiographs were analyzed. Each gender divided into 7 age groups, the numbers of those groups up to 78 cases, at least 17 cases. 103 boys, 142 girls were in puberty. The skeletal age of CHN method was higher than that of GP method in all age groups, and it was also higher than that of TW3-C RUS method. Except for three age groups, the skeletal age of TW3-C RUS was less than that of GP. The difference between the maximum and the minimum skeletal age of the three methods in all age groups of boys and girls increased with age. In view of the TW3-C RUS upper limit of evaluation , 16-year-old boy, 15-year-old girl, those radiographs assessed by the TW3-C RUS method for boys over or equal 16 years old (18 cases) and girls over or equal 15 years old (34 cases) were excluded. Finally, 515 radiographs (251 boys, 264 girls) entered the consistency limits analysis. In boys, the consistency was good between TW3-C RUS method and GP method, in the 3~4 years' skeletal age group and ~6 years' skeletal age group. In the girls, between CHN method and TW3-C RUS method, in 3~4 years' skeletal age group the consistency was good; Between TW3-C RUS method and GP method, ~8 years' skeletal age group, was with good consistency. There was good consistency between TW3-C RUS and GP in girls without puberty development group, and the consistency of skeletal age and puberty development of the rest group in boys and girls was poor.Conclusion: The skeletal age results obtained by the three skeletal age measurement methods cannot be substituted for each other. The method of evaluating skeletal age should be clear and definite in clinical applications.

Objective: To summarize the surgical technique of repairing congenital aortic valve stenosis by using autologous pericardium and analyze its early outcomes in children.Methods: A total of children with congenital aortic stenosis who underwent autologous pericardial aortic valvuloplasty at the Children's Hospital of Fudan University from July 2013 to June 2015 were collected for clinical information, including general informations, perioperative conditions, complications , preoperative, intraoperative, postoperative color echocardiograph data, and follow-up information. Results: 9 children according with the inclusion criteria for this article were analyzed: There were 6 males and 3 females, aged from 4 months to 9 years old. Preoperative color echocardiograph showed tricuspid aortic valve (n=3), bicuspid aortic valve(n=6); severe aortic valve stenosis (n=6), moderate aortic valve stenosis(n=1) and severe aortic valve stenosis with moderate aortic valve re-gurgitation (n=2). The surgical procedures of 9 patients were all based on reconstruction aortic valve (reconstructed leaflets or expand leaflets) by autologous pericardium. Compared to the preoperative echocardiograph, immediately postoperative echocardiography results showed that aortic valve peak pressure gradient［(31.6±9.4)mmHg vs (73.0±22.2)mmHg, P=0.000］and aortic valve average pressure gradient［(15.8±18.3)mmHg vs(5.8±18.3)mmHg, P= 0.004］were decreased significantly. 24～48(32±8)months were followed up after operation, no death events or reoperation events or adverse event were recorded, and there was no patient with severe aortic stenosis or sever aortic regurgitation , ascending aortic stenosis or dilatation, aortic valvular ring stenosis or dilatation. And there were no patients with aortic valve prolapse or aortic valve vegetation.3 patients encountered with aortic valve stiffness and restriction of aortic valve open at the18, 24 and 12 months after operation respectively.The left ventricular posterior wall diameter was decreased in all patients ,and except for 1 case, the Z-LVPWd of rest 8 patients was at normal level upon the last follow-up. Conclusion: Using autologous pericardium to repair aortic valve lesions can improve the hemodynamics of children with congenital aortic valve stenosis, the risk of this operation is low and the short-term results are excellent. Furthermore, this operation technique can avoid or put off the valve replacement operation and reduce the operation of Ross procedure.

目的：通过调查新生儿期（0~28 d）、新生儿后期（~100 d）和改良婴儿期（~1岁）病死率和死因谱，为新生儿后期新概念提供初步的临床证据支持。方法：在中国西部新生儿协作网采用整群随机抽样方法抽取14家医院，采用回顾性横断面调查方法，采集14家医院2004年1月至2013年12月住院婴儿新生儿期、新生儿后期和改良婴儿期的第一出院的或病死的诊断。结果：在10年期间，共有155 463例住院婴儿进入本文分析，死亡959例，病死率为6.16‰；新生儿期、新生儿后期和改良婴儿期病死率分别为10.1‰、6.9‰和2.6‰，新生儿后期与新生儿期和改良婴儿期差异均有统计学意义。新生儿期632例死亡病例中前6个死亡原因依次为新生儿窒息、新生儿呼吸窘迫综合征（NRDS）、先天心脏病（CHD）、早产相关疾病（PAD）、婴儿猝死综合征(SIDS)和肺炎，新生儿后期148例死亡病例中前6个死亡原因依次为肺炎、CHD、PAD、腹泻、SIDS和维生素K1缺乏，改良婴儿期188例死亡病例中前6个死亡原因依次为肺炎、CHD、意外伤害、SIDS、PAD和腹泻。新生儿期、新生儿后期和改良婴儿期同时出现的死因性疾病PAD、肺炎、SIDS和CHD，病死率最高是新生儿后期(P＜0.001)。结论：在未校正胎龄和喂养方式混杂因素的情况下，新生儿后期疾病病死率及其病因具有特殊性，可能具有特别的临床意义。

Objective: To investigate potential candidate genes related to phenotype of agnogenic lethal hydrops using whole-exome sequencing.Methods: Data of neonates with agnogenic lethal hydrops were collected from Jan 1st 2011 to June 1st 2017 in Children's hospital of Fudan University (our hospital) and WES was employed to analyze their genotype. Maternal, perinatal and neonatal risk factors were also collected from each neonate. We used next-generation sequencing data analysis pipeline established by Translational Medical Center, Children's Hospital of Fudan University. Public databases were used including the exome aggregation consortium (ExAC), and the 1000 Genome Project, as well as in-house database including 13 810 WES data for variants annotation and filtering.Results: Eighteen neonates with agnogenic lethal hydrops were included in this study, and half of them were male. Their gestational ages were among 34±2 weeks and birth weight was around (2 935±911) g. There were 2 patients' mothers with history of induced abortion because of hydrops or thoracic effusion fetus and 3 patients were IVF (In-Vitro Fertilization) infants. Besides hydrops and polyhydramnios, the other common clinical phenotypes were cardiac dysfunction, shock and pulmonary dysplasia. Nine variants in 7 patients were identified fitting our criteria for rare and likely pathogenic, including 5 heterozygous variants in 5 genes and 4 compound heterozygous variants in 2 genes. Among the 5 heterozygous variants, 2 variants were deleterious (one nonsense in FOXF1 gene and one frameshift in RASA1 gene), 3 variants were missense in FOXC2, FLT4 and SPTB gene. Among the 4 compound heterozygous variants, both variants in PIEZO1 gene were deleterious (one splicing site and one frameshift), other two variants in DSP gene were missense. The pathway enrichment analysis showed that these genes identified in the 7 patients focused on blood vessel, cardiovascular system development and vascular endothelial growth factor receptor signaling pathway.Conclusion: Seven rare potential pathogenic gene variants were detected in agnogenic lethal hydrops neonates. Combined with previous literature, FLT4, SPTB, PIEZO1 and FOXC2 might be considered as candidate genes of fetal hydrops. Our study was the first report that suggested FOXF1, RASA1 and DSP genes could be related to the phenotype of fetal hydrops.

Objective: To summarize the clinical, liver biopsy and gene mutation features of glycogen storage disease type Ⅵ and Ⅸa, so as to improve the clinical understanding of the disease. Methods: A retrospective analysis was performed on seven cases' （3 cases of type Ⅵ , 4 cases of type Ⅸa）clinical manifestation, laboratory examination, liver biopsy and gene mutation spectrum. Related literatures of GSDⅥ and Ⅸa were reviewed and the clinical, liver biopsy and genetic features were summarized..Results: ①All the 7 cases were male and diagnosis age was 2 years 3 months to 5 years. There were 7 cases with hepatomegaly and transaminase elevation, 1 case with short stature, 2 cases with fasting hypoglycemia, 2 cases wtih hypertriglyceridemia and hypertriglyceridemia, 3 cases with blood ketone bodies, 2 cases with positive analysis of urine organic acids; 7 patients'liver biopsy revealed diffuse enlargement of hepatocytes with glycogen aggregation, 4 cases with hepatic steatosis; cirrhosis with portal fibrosis was presented in 3 cases of GSD Ⅵ. 6 PYGL mutations were detected in 3 patients of type Ⅵ, c.772+1G>A, c.244-1G>A, c.730C>T(p.L244F), c.2417_2418delTA （p.I806SfsX9）were novel, 4 PHKA2 mutations were detected in 4 patients of type Ⅸa, c.3529C>T(p.Q1177X), c.3574C>T(p.Q1196X) were novel. ②13 literatures were retrieved, together with the 7 cases in this study, there were 22 cases of GSD Ⅵ and 99 cases of GSDⅨa. Almost all the children had hepatomegaly and transaminase elevation, some patients had short stature, fasting hypoglycemia, hypertriglyceridemia, hypertriglyceridemia and blood ketone bodies. All the patients' liver biopsy revealed glycogen aggregation in hepatocytes , 17% showed hepatic steatosis, liver cirrhosis was presented in 25% of type Ⅵ and 33% of type Ⅸa patients. 19 PYGL gene mutations were reported, most were point mutations, splice site mutation was common and insertion mutation was rare. 43 PHKA2 gene mutations were reported and the types were variant.Conclusion: The patients with hepatomegaly accompanied by elevated transaminase should be alerted to be with glycogen storage disease type Ⅵ or Ⅸa; patients with type Ⅵ may have cirrhosis early and require to be further followed-up.

Objective: To investigate current practice, management and awareness of pediatric off-label drug use in China, and provide a reference for the effective management on pediatric off-label drug use. Methods: It was a cross-sectional study. Pediatricians, pharmacists, nurses and medical section staffs from hospitals with pediatric qualification in 31 provinces of mainland China were recruited in the present study. An online anonymous questionnaire was designed by expert group of pediatricians, pharmacists, epidemiologists and pharmacy administration experts. The questionnaire consisted of 3 sections. The first section focused on participants' general information (6 questions). The second section focused on practice and management of off-label drug use in the participants' units (11 questions). The third section focused on awareness of medical professionals regarding off-label drug use and the Chinese Expert Consensus of Pediatric Off-Label Drug Use (33 questions). Results: 2 116 questionnaires were collected from 436 hospitals from 31 provinces including 36 specialized children's hospitals, 50 maternal and child health hospitals and 350 general hospitals. The 436 hospitals comprised 20 primary hospitals, 185 secondary hospitals and 231 tertiary hospitals. 2 116 respondents included 621pediatricians, 755 pharmacists, 531 nurses and 209 medical section staffs. 63.8% of the pediatricians had off-label drug prescription experience and 18.8% of the pediatricians prescribed off-label drugs often. Pediatricians with higher technical titles prescribed off-label drugs more frequently. 19.4% of the pediatricians were not reminded by pharmacists or nurses during the prescription. It was common for pharmacists to find off-label prescription regardless of the professional title (87.1%~98.3%) and hospital grade (82.1%~94.2%). 6.9%~8.8% of the nurses refused to executive off-label prescription. 60.6% of the participating hospitals had established protocols for off-label use. The rates were higher in tertiary hospitals and specialized children's hospitals. 70% of the respondents felt it was not illegal to use off-label drugs. However, more than 80% of the respondents realized that there were potential risks to use off-label drugs. Pharmacists had the highest awareness rate of the "Expert Consensus of Pediatric Off-Label Drug Use" (56.8%). followed by pediatricians (51.2%), medical section staffs (45.4%) and nurses (35.8%). Conclusion: Pediatric off-label drug use is common in China and there exists gaps in the management of the issue. It is necessary to establish the national guidelines to regulate pediatric off-label drug use with Chinese national conditions and to strengthen the training of medical professional on using off-label drugs.

Objective: In this study, two Mendelian susceptibility to mycobacterial diseases (MSMD) patients with novel IFNGR1 mutation were reported. Methods: Clinical manifestations of two patients with IFNGR1 mutation were reviewed. The IFN-γ level was analyzed by ELISA, the IFNGR1protein was detected by flow cytometry. Mutation analysis in IFNGR1 was performed by Sanger sequencing．Results: ①Clinical manifestations: In 2 patients, BCG disease was found during 3 months after birth, and the draining lymphadenectasis after BCG vaccination was the onset feature. The BCG infection was gradually disseminated to lung, intestinal tract, central nervous system and bone. The diagnosing age of the 2 patients was 4 and 6 years old, respectively. Routine immune function evaluation (lymphocyte subgroup, immunoglobulin, DHR analysis, complement) was normal. ②The two patients showed significantly lower IFN-γ concentrations in the supernatant after stimulation with medium alone, and IFN-γ concentrations did not significantly increase after stimulation with LPS or with LPS plus IL-12. ③IFNGR1 protein was very low in the two patients. ④Gene sequencing: Case 1 had a c.665G>A (p.G219R) homozygous mutation, whose parents were both with c.665G>A (p.G219R) heterozygotes mutation. Case 2 had c.665G>A (p.G219R) and c.310 C>A (p.A104N) compound heterozygous mutation, and her mother had c.665G>A (p.G219R) heterozygous mutation and her father had c.310 C>A (p.A104N) heterozygous mutation. The mutation A104N was novel. ⑤Treatment: Both patients were suffered recurrent mycobacteria infection before diagnosis. While treated with IFN-γ after diagnosis, the BCG infection was controlled without any adverse reactions.Conclusion: IFNGR1 gene mutation can cause MSMD. When the routine immunological evaluation of patients with BCG disease is normal, it is necessary to consider the possibility of MSMD. The detection of protein and gene analysis are helpful to the diagnosis of the disease.

Objective: To explore the clinical feature and immunophenotype of primary immunodeficiency disease caused by MSN gene mutation.Methods: Clinical data, immunophenotype and treatment in 1 case of primary immunodeficiency disease caused by MSN gene mutation were retrospectively analyzed, and related literatures were reviewed. Results: An 8-years-old boy presenting with repeated pulmonary, intestinal infection and recurrent eczema and tinea pedis, was admitted to hospital. Laboratory examination showed that neutrophils, lymphocytes and monocytes were decreased; Immunoglobulin IgG, IgA and IgM were low; T, B and NK lymphocyte counting decreased; the proportion of CD4+/CD8+ was reversed and the percentage of DNT cells increased. Whole exome sequencing (WES) was performed and showed a hemi zygote mutation of MSN gene on the X chromosome (c.511C > T, p.R171W) and was confirmed by Sanger sequencing. The test gene of his parents was normal. The retrieval of "Moesin(MSN) mutation or deficiency" was made in PubMed, web of science, Chinese CNKI, VIP database and wanfang database. From the establishments of these databases to June 30th, 2017, a total of 2 articles were retrieved. Including 1 case of this article, a total of 6 children with MSN mutation were analyzed. All of them showed repeated infection in the early stage of life, involving respiratory tract, digestive tract and skin, and susceptible to bacteria, fungi and viruses. The varicella zoster virus infection was especially prominent and was prone to involve multiple systems. The immunophenotype was similar to that of the case in this article. CD8+T cells overexpressed the senescent marker CD57. The use of immunoglobulin replacement and prophylactic antibiotics was an effective treatment to reduce the incidence of infection.Conclusion: The immunodeficiency disease caused by MSN gene mutation is characterized by repeated infection in the early stage of life, decrease of leukocytes and immunoglobulin.

Objective: To study the rescue methods of non-diabetic ketoacidosis caused by β-ketothiolase deficiency. Methods: One case of β-ketothiolase deficiency who suffered three episodes of non-diabetic ketoacidosis was reported. Clinical symptoms, auxiliary examination results and rescue methods of acidosis were retrospectively reviewed. The treatment strategies of non-diabetic ketoacidosis rescuing were summarized and literatures were reviewd. Results: A 5 23/30 months old boy was admitted to the Children's Hospital of Chongqing Medical University on May 31,2013，because of "diarrhea 3 days, spasm 3 hours".The blood series mass spectrometry indicated that the 3-hydroxybutyl carnitine was increased (58.71 μmol·L-1); the urine gas phase mass spectra showed a significant increase (2 591.6 μmol·L-1), with the 3-hydroxypropyl acid (20.3 μmol·L-1), and acetyl glycine increased (34.9 μmol·L-1) and the T2 gene mutation was presented as T2 gene mutation, which confirmed the deficiency of beta-ketone thiolysis in the first hospitalization. He suffered three episodes of non-diabetic ketoacidosis respectively at the age of 5, 8 and 26 months .All three episodes were accompanied by gastrointestinal symptoms, deep breathing, mild dehydration and altered consciousness. The pH, HCO3-, urine acetone bodies and blood sugar were (7.15, 7.09, 7.03), (3.8, ＜ 3, 4.8) mmol·L-1, (3+, 3+, 3+), (4.3, 5.1, 4.7) mmol·L-1 respectively.The boy was treated with continuous hemodiafiltration in the first hospitalization, which lasted 17 hours, with ketoacidosis corrected partly. The ketoacidosis was corrected completely until 8 hours after using insulin, which was used 81 hours after admission.The time of correction of acidosis, the dosage of 5% sodium bicarbonateand and insulin dosage were (89, 60, 21) h, (24, 2.5, 3) mL·kg-1, (0.079, 0.078, 0.081) U·kg-1·h-1 respectively. Conclusion: For NDKA treatment, insulin is effective, CRRT is not effective, and the use of sodium bicarbonate should be prudent.