Table of Content

15 December 2017 Volume 35 Issue 12

  

Genetic diagnosis and mutation site analysis of fructose 1, 6 diphosphatase deficiency

ZHAO Yinxia, LIANG Juan, LIU Jing, LU Biao, YU Xinyou

. 2017, 35(12):  881.  doi:10.3969/j.issn.1000-3606.2017.12.001

Abstract ( 487 )   PDF (1361KB) ( 399 )  

Related Articles | Metrics

　Objectives　To explore the genetic diagnosis of fructose 1,6 diphosphatase deficiency and analysis of mutation sites of its pathogenic genes. Methods　The clinical data and the related results of gene panel screening in one child with fructose 1, 6 diphosphatase (FBPase) deficiency were retrospectively reviewed. Results　The 2-year-old girl suffered repeated infection, nausea, vomiting, mental illness, and drowsiness, accompanied by intermittent convulsions. Blood biochemical tests sμggested hypoglycemia and acidosis. The FBP1 gene had a missense mutation, c.355G>A, p.Asp119Asn (isozygoty). Both her parents carried the locus variation (heterozygous). Conclusions　Fructose 1, 6 diphosphatase deficiency should be considered when child with hypoglycemia after repeated infection, acidosis, and ketosis.

The analysis of clinical manifestations and genetic mutations in a child with hereditary fructose intolerance

YE Xiaoqin, CHANG Guoying, LI Juan, DING Yu, LI Niu, WANG Jian, WANG Xiumin, SHEN Yiping

. 2017, 35(12):  885.  doi:10.3969/j.issn.1000-3606.2017.12.002

Abstract ( 371 )   PDF (1309KB) ( 294 )  

Related Articles | Metrics

　Objective　To analysis the clinical and gene mutation characteristics of hereditary fructose intolerance (HFI). Methods　The clinical features and the results of gene testing in the child with HFI and her parents were analyzed retrospectively. Gene sequencing was carried out by high-throughput sequencing and validated by Sanger sequencing. Results　The 4-year-3month old girl had recurrent hypoglycemia episodes and growth retardation. When the condition was stable, the levels of lactic acid and urine micro protein were slightly higher, and the levels of thyroid hormone, cortisol, glycosylated hemoglobin, insulin and C peptide were normal. EEG showed epileptiform activity. Gene sequencing revealed the presence of aldolase B gene (ALDOB) compound heterozygous mutations, a novel splicing mutations (c.325-1G>A) in intron 3 and a frameshift mutation (c. 865delC; p.L289fs*10) in exon 8. Her father carries a frameshift mutation, and her mother carries a splicing mutation. Conclusion　The diagnosis of HFI caused by ALDOB mutation can be confirmed by high-throughput sequencing technology.

Clinical characteristics and gene analysis in three children with Gitelman syndrome

XU Aijing, SU Ling, LI Xiuzhen, CHENG Jing, ZHENG Ruidan

. 2017, 35(12):  889.  doi:10.3969/j.issn.1000-3606.2017.12.003

Abstract ( 456 )   PDF (1543KB) ( 432 )  

Related Articles | Metrics

　Objectives　To explore the clinical and gene mutation characteristics of Gitelman syndrome in children. Method　The clinical data of 3 children with Gitelman syndrome were retrospectively analyzed. Results　All three cases were male and their age were 3, 8 and 10 years . The clinical manifestations were hypokalemia, hypomagnesemia, alkalosis, hyperreninemia, and hyperaldosteronemia. Gene detection revealed a complex heterozygous mutation in the SLC12A3 gene. A total of 5 mutation sites were found in the SLC12A3 gene, c.179C>T (Thr60Met), c.248 G>A (Arg83Gln), c.2129 C>A (Ser710X), c.2660+1G>A, c.1456G>A (Asp486Asn). After the diagnosis was confirmed, they were treated with potassium supplement, magnesium supplement, and spironolactone and the conditions were improved in all cases. Conclusions　In children with hypokalemia, be aware of Gitelman syndrome, and gene detection is helpful for the diagnosis.

The clinical and genetic findings of childhood cystinuria

　MA Yanyan, XIAO Haixue, LIU Yupeng, YUAN fumei, LI Dongxiao, SONG Jinqing, LI Xiyuan, DING Yuan, YANG Yanling

. 2017, 35(12):  894.  doi:10.3969/j.issn.1000-3606.2017.12.004

Abstract ( 433 )   PDF (1151KB) ( 324 )  

Related Articles | Metrics

Objective　To explore the clinical features and genetic etiology of children with cystinuria with onset of kidney stone. Methods　The clinical data of 3 children with cystinuria with onset of kidney stone and the gene analysis results of SLC3A1 and SLC7A9 by PCR sequencing were retrospectively analyzed. Results　Three male children were from three unrelated families, kidney stone were presented in 2 cases at 1 year old and 1 case at 14 years old. The blood amino acid spectrum was normal in all 3 cases, while the free carnitine were decreased. The urinary amino acid spectrum indicated that cystine, ornithine, arginine, and threonine increased. Gene analysis confirmed that 1 case had homozygous mutations of SLC7A9 gene c.325G>A, and his parents were carriers of c.325G>A heterozygous mutation; other 2 cases had heterozygous mutations of SLC3A1 gene, c.1365delG and c.1113C>A heterozygous mutation in one case, and c.1897_1898insTA and c.1093C>T heterozygous mutation in one case, and their parents were heterozygous mutation carriers. After treatment with potassium citrate and L-carnitine, the conditions were improved in all cases. Conclusions　Inherited metabolic disease should be considered for children with kidney stone. Urine amino acid analysis and gene detection are important methods for the diagnosis of cystinuria.

Hutchinson-Gilford progeria syndrome in two brothers and literature review

CHENG Fei, CHEN Mei, WU Jinzhun, ZHOU Junmin, YAN Qingtan

. 2017, 35(12):  898.  doi:10.3969/j.issn.1000-3606.2017.12.005

Abstract ( 398 )   PDF (1604KB) ( 333 )  

Related Articles | Metrics

　Objective　To analysis the clinical features, diagnosis and treatment of Hutchinson-Gilford progeria syndrome (HGPS). Methods　The clinical data and gene testing results of HGPS in two brothers in the same family were retrospectively analyzed. The related literatures were reviewed. Results　The proband was 15 years old, and his younger brother was 6 years old. Both of them presented premature appearance at 4 years old and 1 year-old respectively. Both of them suffered from underweight, short stature, reduced subcutaneous fat, bird face (prominent eyes, facial skin, scalp veins exposure, hook and prominent nose, mandibular stenosis). In addition, their trunk and limbs skin was relaxation, and they had ankylosis,and shrill voice etc. In both of them, the compound heterozygous mutation of NBAS gene (c.4081C>T, c.5741C>T) were found by full sequence exon sequencing, which were inherited from their father and mother respectively. The literature review suggested that NBAS gene mutation was associated with the diseases with main phenotype of short stature and optic atrophy. Conclusions　It is reported two cases of HGPS caused by NBAS gene mutation. It is rare that two brothers have HGPS.

Noonan syndrome caused by mutation of SHOC2 gene: a case report

MEI Yuxia, CHANG Guoying, ZHUANG Cheng, DING Yu, LI Juan, LI Xin, WANG Jian, WANG Xiumin

. 2017, 35(12):  902.  doi:10.3969/j.issn.1000-3606.2017.12.006

Abstract ( 654 )   PDF (1456KB) ( 266 )  

Related Articles | Metrics

Objective　To investigate the clinical phenotype and molecular diagnosis of Noonan syndrome (NS) caused by mutations in SHOC2 gene. Methods　The clinical data and gene testing results of one child with NS were analyzed retrospectively. Results　This is an 8-month-old infant. Since birth, the boy had feeding and sleeping difficulties, irritability, and growth retardation. The boy had large head circumference, sparse, thin and yellow hair, broad and prominent forehead, flat nose, slightly wide eye distance, and slightly bilateral eye fissure outward tilt, no eyelid ptosis. Echocardiography showed patent foramen ovale, ventricular septum and left ventricular hypertrophy. A novel mutation (De novo) was found in the SHOC2 gene, heterozygous missense mutation c.4A>G, p.Ser2Gly His parents were normal genotypes. According to the clinical characteristics, relevant literature was reviewed. The clinical manifestation of sleep difficulty has not been reported in the NS patients with SHOC2 mutation. Conclusions　This is the first domestic reported NS case with SHOC2 mutation. The phenotype is consistent with the foreign reports. Sleep difficulty may be a new phenotype of NS with SHOC2 mutation.

3M syndrome: a case report and literature review

　LIU Xiaoying,WANG Xike, ZHOU Hao, CHEN Rong, WANG Yuchuan, CUI Yuxia

. 2017, 35(12):  906.  doi:10.3969/j.issn.1000-3606.2017.12.007

Abstract ( 672 )   PDF (1277KB) ( 330 )  

Related Articles | Metrics

Objective　To investigate the clinical features and gene mutations of 3M syndrome. Method　The clinical data of a child with 3M syndrome was retrospectively analyzed. The DNA was extracted from the peripheral blood of the child and parents, and the sequence analyses were performed by Agilent SureSelect exon capture and Illumina HiSeq sequencing platform. And the mutant gene was validated by Sanger sequencing. Results　The six-month-old girl presented special face and growth retardation. The girl had a missense mutation c.4898C>T, p.T1633M in the CUL7 gene (NM_014780.4), and both her parents had heterozygous mutations. The girl was diagnosed with 3M syndrome. Conclusions　The CUL7 mutation is the major causative gene of 3M syndrome in this girl. Early gene testing should be performed to confirm the diagnosis in suspected clinical phenotype.

Association of PAX4 R192S and R192H polymorphism with obesity in children and adolescents

　KONG Yuanmei, WANG Chunlin, LIANG Li, FANG Yanlan, ZHU Jianfang

. 2017, 35(12):  909.  doi:10.3969/j.issn.1000-3606.2017.12.008

Abstract ( 557 )   PDF (1372KB) ( 220 )  

Related Articles | Metrics

Objective　To investigate association of the paired box 4 (PAX4) gene rs3824004 (574C>A; R192S) and rs2233580 (575G>A; R192H) polymorphism with obesity and metabolic markers in children and adolescents. Methods　A total of 103 obese children were randomly selected, and an average age was (10.82±2.57) years, and body mass index (BMI) was (26.82±4.57) kg/m2. At the same period, 100 normal weight children were selected as the control group, and an average age of (10.60±2.84) years, and BMI was (16.79±2.13) kg/m2. The blood pressure, physical measurements, and blood metabolic parameters were measured and compared. The oral glucose tolerance test (OGTT) and insulin release test were performed in the obesity group. The homeostasis model insulin resistance index (HOMA-IR) and the overall insulin sensitivity index (WBISI) were calculated. PAX4 rs3824004 and rs2233580 polymorphism were detected by PCR. The differences of allele frequency and genotype frequency of polymorphic loci were analyzed, and the correlation between different genotypes and metabolic indexes was analyzed. Results　The height, weight, BMI, systolic blood pressure, diastolic blood pressure, waist circumference, hip circumference, waist to height ratio (WHtR), fasting blood glucose (FPG), total cholesterol (TC), low density lipoprotein (LDL), triacylglycerol (TG), alanine aminotransferase (ALT), and aspartate aminotransferase (AST) in the obesity group were significantly higher than those in the control group, and the high density lipoprotein (HDL) was significantly lower than that in the control group (all P<0.05). The frequency of gene distribution was in accordance with the Hard-Weinberg balance. The frequencies of A allele of rs3824004 in obesity and control groups were 4.9% and 5.0%, respectively, and the frequencies of CA genotype were 9.7% and 10.0%, respectively, and there was no significant difference between two groups (P>0.05). The frequency of GA allele of rs2233580 in obesity group was 25.2%, which was significantly higher than that in control group (P<0.05). The BMI and waist in rs2233580 GA genotype were significantly higher than those in GG genotype (all P <0.05). However, logistic regression analysis showed that there was no correlation between PAX4 rs2233580 genotype and metabolic markers (all P>0.05). There were no significantly differences in HOMA-IR and WBISI among different genotypes of PAX4 rs2233580 in obesity group (all P>0.05). Conclusions　PAX4 rs2233580 affects children's BMI and waist circumference and may be involved in the development of childhood obesity, but it is not an independent risk factor for obesity in children and adolescents.

Efficacy of different doses of intravenous immunoglobulin in the treatment of severe aplastic anemia

BIAN Zhuli, QIAO Xiaohong, XIE Xiaotian, SHI Wei, LU Shuanglong, LI Wei, ZHOU Ning, ZHOU Xiaoxun

. 2017, 35(12):  914.  doi:10.3969/j.issn.1000-3606.2017.12.009

Abstract ( 417 )   PDF (1200KB) ( 301 )  

Related Articles | Metrics

Objective　To analyze the efficacy of different doses of intravenous immunoglobulin (IVIG) in the treatment of acquired severe aplastic anemia (AA) in children. Methods　The clinical data of hospitalized children with severe AA who received adjuvant immunosuppressive therapy of IVIG from January 2000 to December 2015 were retrospectively analyzed. According to different doses of treatment, the children were divided into low dose group ( IVIG 200-400 mg/ (kg·d) once every 4 weeks for 6 times), high dose group (IVIG 1 g/ (kg·d ) x 2 days once every 4 weeks for 6 times). Results　All the children were followed up until December 31, 2015. Among the 61 children, it was effective in 41 children and total effective rate was 67.2%. The effective rate of anti thymocyte globulin (ATG) treatment in high dose group was higher after 3 months than that of low dose group, and there was statistical difference (P=0.020). The interval between first dose of IVIG and first dose of ATG in 20 cases of ineffectiveness was 2.0 (2.0-5.0) d, while that in 41 cases of effectiveness was 8.0 (7.0-9.0) d, and the difference is statistically significant (P<0.001); Among the 20 ineffective children, 18 children had the interval <7 day. The survival rates of the two groups were 80% and 87.1%, respectively, and there was no difference between two groups (P>0.05). The incidence of severe infections in the high-dose group was lower than that in the low-dose group after the use of ATG for 6 months, and there was statistical difference (P=0.008). Conclusions　High dose of IVIG therapy can increase the early response rate in children with acquired severe AA, but it does not increase the long-term effectiveness, cure rate and 5 year survival rate. In addition, it can reduce the severe infection rate, but cannot reduce the total infection rate and infection related mortality rate.

Relationship between vitamin D level and lung diseases in premature infants

ZHOU Qin, JIANG Shanyu, QIU Ting, WANG Yao, YU Renqiang

. 2017, 35(12):  918.  doi:10.3969/j.issn.1000-3606.2017.12.010

Abstract ( 257 )   PDF (1216KB) ( 250 )  

Related Articles | Metrics

Objective　To analyze the relationship between serum 25(OH)D level and lung diseases in premature infants. Methods　The clinical data and the results of serum 25 (OH) D were collected in the preterm infants admitted to NICU from January 2015 to December 2016. According to the average level of serum 25 (OH) D, the premature infants were divided into low vitamin D group and high vitamin D group, and the differences of lung diseases between two groups were compared. Results　A total of 115 premature infants were enrolled. The mean gestational age was (29.9±1.9) weeks, and the mean serum 25(OH)D level was (37.1±16.6) nmol/L. The rates of vitamin D deficiency [25(OH)D<50 nmol/L], vitamin D insufficient [25(OH)D 50-75 nmol/L] , and normal [25(OH)D≥75 nmol/L] were 71.3%, 17.4%, and 11.3%, respectively. The persistent positive airway pressure, oxygen therapy time, the incidences of neonatal respiratory distress syndrome (RDS) and bronchopulmonary dysplasia (BPD), and hospitalization days in the low vitamin D group were significantly higher than those in the high vitamin D group (P all<0.05). Conclusions　Preterm infants with low vitamin D levels may increase the incidences of RDS and BPD, and prolong the length of hospitalization.

Monitoring of vancomycin concentration in children in pediatric intensive care unit

ZHANG Ni, YANG Baowang, LI Xingchuan, YANG Zhiguo

. 2017, 35(12):  928.  doi:10.3969/j.issn.1000-3606.2017.12.012

Abstract ( 297 )   PDF (1184KB) ( 378 )  

Related Articles | Metrics

Objectives　To analyze the relationship between the different dosage of vancomycin and its blood concentration in children in pediatric intensive care unit (PICU), the relationship between different valley concentrations and therapeutic efficacy and the adverse reactions. Methods　The clinical data of 72 children admitted to PICU and treated with vancomycin from January 2013 to June 2016 were retrospectively reviewed. The vancomycin doses in 58 cases was 40 mg/ (kg·d) and were 60 mg/(kg·d) 14 patients. In the subjects treated at 40 mg/(kg·d), administration by q12h were in 19 cases, q8h in 22 cases and q6h in 17 cases. After vancomycin was administered at least 4 doses, blood samples were collected, and the valley concentration was determined within 30 min before administration of vancomycin and peak concentration was determined within 30-60 min after administration of vancomycin. The concentration of vancomycin in plasma was detected by high performance liquid chromatography (HPLC). Results　When vancomycin was administrated at 40 mg/(kg·d), there were no difference in valley concentration and peak concentration among the three groups of q12h, q8h, and q6h (P>0.05).  The effective rate was not different between valley concentration ≤5 μg/mL and >5 μg/mL of vancomycin (81.8% vs. 84.0%, P>0.05). Compared with vancomycin 40 mg/(kg·d) group (q8h), the valley concentration and peak concentration in 60 mg/(kg·d) group were significantly increased (P<0.05). Conclusion　It was difficult to reach a valley concentration of 10 μg/mL by using conventional doses of vancomycin. Thus, in order to achieve effective concentration and reduce adverse reactions, the dosage of vancomycin can be increased, and the times of administration can also be increased.

The expression and significance of CXCL13 in gastric mucosa of children with nodular gastritis

　CHEN Ying, ZHANG Mingrong, LIAN Min, PAN Jian, LIU Zhifeng, LI Mei, LIN Qian, LIN Qiong

. 2017, 35(12):  932.  doi:10.3969/j.issn.1000-3606.2017.12.013

Abstract ( 422 )   PDF (1396KB) ( 388 )  

Related Articles | Metrics

Objective　To explore the expression and significance of CXCL13 in gastric mucosa of children with nodular gastritis. Methods　A total of 216 pediatric patients with clinically diagnosed gastritis under gastroscopy were randomly divided into nodular group and non-nodular group according to whether there were nodular changes under endoscopy. The pathological characteristics of gastric mucosa and the expression of CXCL13/CXCR5 in gastric mucosa of all patients were evaluated. Results The infection rates of Helicobacter pylori (HP) in gastric mucosa in nodule group (n=102) and non-nodular group (n=114) were 70.59% and 42.11%, respectively; the rate of severe mononuclear cell infiltration were 74.51% and 22.81%, respectively; the proportion of neutrophil infiltration were 62.75% and 33.33%, respectively; lymph follicles occurred in 64.71% and 20.18%, respectively; and there were statistical differences between the two groups (P<0.001). Positive staining of CXCL13 and CXCR5 were found in the gastric mucosa of all HP infected patients. The percentages of positive cells of CXCL13 and CXCR5 in the gastric mucosa of the nodules group were (71.33±7.14)% and (73.54 ± 7.92)%, which were higher than those in the non-nodule group (45.88 ± 5.92)% and (50.42 ± 5.98)%, respectively, and there were statistical differences (P<0.001). Conclusions　Nodular gastritis in children is mainly associated with Hp infection. The expression of CXCL13/CXCR5 is increased in gastric mucosa in children with Hp infection, especially in nodular gastritis, it may be involved in the formation of lymphoid tissue in gastric mucosa.

Paraneoplastic syndrome associated to Hodgkin's lymphoma-nephrotic syndrome

　WU Chongjun, XIONG Ting, XU Zhongjin

. 2017, 35(12):  936.  doi:10.3969/j.issn.1000-3606.2017.12.014

Abstract ( 368 )   PDF (1137KB) ( 320 )  

Related Articles | Metrics

Objective　To analysis the association between nephrotic syndrome (NS) and Hodgkin lymphoma. Methods　The clinical data of one child with clinical manifestations of NS before diagnosed Hodgkin's lymphoma were retrospectively analyzed. Results　A 3-year and 8-month-old boy, with NS as the first onset symptom, was poor response to hormone therapy. Hodgkin's lymphoma was diagnosed with cervical lymph node biopsy. After chemotherapy, the symptoms were relieved and the renal function turned to normal. Conclusion　NS can be a paraneoplastic performance of Hodgkin's lymphoma.

Endovascular treatment of Budd-Chiari syndrome in young child: a case report

　NAI Qiyuan, WEI Mengxue, XU Wei, XU Hao, GU Yuming, ZU Maoheng, ZHANG Qingqiao, WEI Ning, CUI Yanfeng, ZHANG Wenyao

. 2017, 35(12):  939.  doi:10.3969/j.issn.1000-3606.2017.12.015

Abstract ( 335 )   PDF (1326KB) ( 284 )  

Related Articles | Metrics

　Objective　To explore the endovascular treatment of Budd-Chiari syndrome (BCS) in young child. Methods　The clinical data of one young child diagnosed with BCS and treated with endovascular therapy were retrospectively analyzed. Results　The 23-month-old female suffered from repeated abdominal distension for 3 months and was diagnosed with BCS by vascular ultrasound Doppler and magnetic resonance examination. After confirmation of the diagnosis, endovascular treatment was performed. Then the occluded blood vessels resumed blood stream, urine output increased, and abdominal distension was significant relieved. Conclusions　In young children, BCS is rare, the condition is complex, and endovascular therapy is effective.

Preparation and evaluation of dried blood spots control materials for steroids

ZHAN Xia, HAN Lianshu, YE Jun, QIU Wenjuan, GU Xuefan

. 2017, 35(12):  941.  doi:10.3969/j.issn.1000-3606.2017.12.016

Abstract ( 341 )   PDF (1190KB) ( 395 )  

Related Articles | Metrics

Objective　To investigate the preparation method of dry blood spots (DBS) control materials for steroids used for internal quality control by liquid chromatography tandem mass spectrometry (LC-MS/MS). Methods　Whole blood was collected and the blood cells and plasma were separated. The blood cells were washed by saline. The activated charcoal was added to the plasma. Standard substance was added to make different concentrations (low, medium, and high) of DBS control materials for steroids. The precision, accuracy, stability, and differences among different blood spots were detected and analyzed by LC-MS/MS. Results　The inter-day precision and accuracy of DBS control materials for steroids were 2.4%-7.0% and 102.0%-111.0%, respectively, and the intra-day precision and accuracy were 5.1%-9.8% and 99.0%-114.8% respectively. The DBS control materials for steroids were stored for 5 months, and there was no difference among the different months (P>0.05). The coefficients of variation among different blood spots were small, 3.3%-8.2%. Conclusions　The DBS control materials for steroids has good precision, accuracy and stability. The difference among different blood spots is small and meet the requirements of indoor quality control products. They can be used for the internal quality control in steroids detection by LC-MS/MS.

Endoscopic features and treatment of Henoch-Scho ..nlein purpura in children

WANG Ling

. 2017, 35(12):  946.  doi:10.3969/j.issn.1000-3606.2017.12.017

Abstract ( 420 )   PDF (1136KB) ( 306 )  

Related Articles | Metrics

Henoch-Schönlein purpura (HSP) is a common systemic inflammatory disease of small blood vessels in children. With the gastrointestinal involvement, it is called abdominal type of HSP. The main diagnostic method of abdominal type of HSP is gastrointestinal endoscopy, which can scan the digestive tract lesions directly and take the biopsy. It is of irreplaceable value for the early diagnosis of HSP with gastrointestinal involvement. This article reviews the literatures of endoscopy application in pediatric abdominal type of HSP at home and abroad, and summarizes the endoscopic features and diagnosis of abdominal HSP in children.

Current status of Chinese version of autism spectrum disorders assessment tool

ZHOU Hao

. 2017, 35(12):  949.  doi:10.3969/j.issn.1000-3606.2017.12.018

Abstract ( 528 )   PDF (1158KB) ( 923 )  

Related Articles | Metrics

Autism spectrum disorders (ASD) is a public health problem worldwide. Recently, the related research is very active. ASD assessment tools play an important role in clinic and basic research of ASD. In this article, the current situation of Chinese version of ASD assessment tools were analyzed and summarized from the perspective of introduction, revision and application. On this basis, the future research directions of the Chinese version of ASD assessment tools for children are prospected.