Table of Content

15 August 2017 Volume 35 Issue 8

  

The characteristics of tidal breath lung function and growth level among infants with recurrent wheezing　

ZHAO Yan, HUANG Ying, LUO Rong, WANG Dongjuan

. 2017, 35(8):  561.  doi:10.3969/j.issn.1000-3606.2017.08.001

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Objectives　To study the relationship of recurrent wheezing and obesity among infants. Methods　In 118 recurrent wheezing infants, the growth level are assessed based on the WHO standard. Meanwhile, all the infants are divided into two subgroups (normal-weight, overweight/obese), and the tidal breath lung function (tidal breath flow volume loop) are analyzed. Results　Among the infants of 1-3 years old, for the growth level, the recurrent wheezing infants have higher index of weight, but almost the same level of height, compared with the WHO standard. For the tidal breath lung function, tidal volume (VT/ kg) is significantly impaired in overweight/obese subgroup in comparison to the normal-weight subgroup. But the ratio of time to peak tidal expiratory flow (tPF) to total expiratory time (tE) and ratio of volume to peak expiratory flow (VPF) to total expiratory volume (VE), which reflect the airway obstructions to a certain extent, have no statistical differences among the two subgroups. Conclusions　Rather than the height index, the weight index is significantly higher in the recurrent wheezing infants than the level of WHO standard. Compared with normal-weight patients, the tidal volume of overweight/obese recurrent wheezing in overweight/obese group is lower, but no significant differences are found for other parameters of airway obstructions.

Effect of sublingual immunotherapy on the balance of Th17/Treg for children with mite, allergic asthma

Hongping, WU Min

. 2017, 35(8):  565.  doi:10.3969/j.issn.1000-3606.2017.08.002

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Objective　To explore the effect of sublingual immunotherapy (S-LIT) on the balance of Th17/Treg in children with mite allergic asthma. Methods　All 124 cases with mite allergic asthma were randomly divided into two groups, the control group (62 cases) was treated with ladder type inhalation, and the treatment group (62 cases) was administered of dust mite drops on the basis of conventional treatment. The peripheral frequency of Th17 cell and Treg cell of all the subjects (before and after treatment) were detected by flow cytometry,  the serum cytokine IL-10、IL-17 levels wer analyzed by ELISA. Results　After 1 year treatment,  the Th17 cells in treatment group (1.50 %±0.87 %)  was significantly lower than that before treatment (3.39 % ± 1.58 %), and less than that of the control group after 1 year of treatment (2.42 %±1.32 %) (P <0.01)；after 1 year treatment, the proportion of Treg cells in treatment group (4.05 %±1.36 %) was significantly higher than that before treatment (2.33 ± 0.81%), and more than that of the control group after 1 year of treatment (2.87 %± 0.87 %) (P <0.01). After 1 year treatment, the serum IL-10 levels in treatment group (64.76±27.79 pg/mL) was significantly higher than that before treatment (36.32 ± 11.53 pg/mL), and more than that of the control group after 1 years of treatment (50.32 ± 10.97 pg/mL) (P <0.01)；after 1 year treatment, the serum IL-17 levels in treatment group (20.45±8.35 pg/mL) was significantly lower than that before treatment (86.48 ± 28.19 pg/mL), and significantly less than that of the control group after 1 year of treatment (46.32 ± 12.43 pg/mL) (P <0.01). After 1 year treatment, the Childhood Asthma Control Test (C-ACT）score in the treatment group (24.35 ± 8.47) was significantly higher than the control group (20.13 ± 6.86) (P <0.05). Conclusions　SLIT can decrease airway inflammation and correct the imbalance of Th17/Treg in children with mite, allergic asthma.

Clinical characteristics and risk factors of refractory Mycoplasma pneumoniae pneumonia in children

　ZHAI Jiayu， LIN Liejie， MAI Langjun， FU Xuexing， SU Xiandu

. 2017, 35(8):  569.  doi:10.3969/j.issn.1000-3606.2017.08.003

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　Objective　To investigate the clinical characteristics of children with refractory Mycoplasma pneumoniae pneumonia (RMPP)，and to analyze the related risk factors. Methods   Clinical manifestations，laboratory indexes and image features of 628 children with Mycoplasma pneumoniae pneumonia (MPP) from January 2012 to October 2016 were retrospectively analyzed, and stepwise logistic regression analysis was performed for risk factors of RMPP. ROC curve was mapped to analyze the predictive value of independent risk factors in RMPP. Results　Compared with 486 cases of general Mycoplasma pneumoniae pneumonia (GMPP), 142 cases of refractory MPP was older, and durations of fever and hospitalization, azithromycin treatment days were longer, pulmonary complications, lesions in the right lobe and right upper lobe, pleural effusion, lobar atelectasis, pulmonary consolidations, and pleural thickening ratio were higher, the percentage of neutrophil, CRP, LDH, CK-MB, IL-6, IL-10, IFN-γ and IgA levels were also higher (all P<0.05). Stepwise logistic regression analysis showed that CRP, LDH, IL-6, IL-10, IFN-γ were the independent risk factors of RMPP. ROC curve analysis showed that CRP, LDH, IL-6, IL10 and IFN-γ has a good value for identification of children with RMPP and GMPP, the best threshold value of 15.3 mg/L, 402 IU/L, 13.82 pg/mL, 5.07 pg/mL, and 13.84 pg/mL, respectively. Conclusions  The clinical symptoms and imaging findings of the lung are severer，and the levels of serum CRP, LDH, IL-6, IL-10, and IFN-γ are significantly increased, which is helpful for the early identification of RMPP.

Value of combining PCT, BNP, D-dimer and PCIS score in predicting the prognosis of severe pediatric pneumonia#br# 　

　GUO Wei, HE Yuting, SHAO Qi, TIAN Man

. 2017, 35(8):  575.  doi:10.3969/j.issn.1000-3606.2017.08.004

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　Objective　To evaluate the value of combining PCT, BNP, D-Dimer and PCIS score in predicting the prognosis of pediatric severe pneumonia in the early stage. Methods　80 cases of children with severe pneumonia were selected, 49 cases were boys , 31 cases were girls, with a  median age of 7.5 months (1 month to 156 months). According to the final outcome, the cases are divided into treatment group and poor prognosis group. The score of PCIS, PCT, BNP and D-dimer within 24 hours after admission were recorded. According to the indicators, ROC curve was drawn independently and integrated with the four indicators，and the corresponding areas under ROC curve (AUC) were calculated to compare the accuracy of the assessment. Results　The AUC of PCIS, PCT, BNP and D-dimer were between 0.7 and 0.9. The ROC curve integrated the four indicators showed the AUC were 0.932, which improved sensitivity and specificity. Conclusions　The integration of PCIS, PCT, BNP and D-Dimer could improve the accuracy of prediction in the prognosis of severe pediatric pneumonia.

Clinical features of bronchiectasis in 182 children in Chongqing with etiology analysis

LIU Jiao, LIU Enmei, DENG Yu

. 2017, 35(8):  580.  doi:10.3969/j.issn.1000-3606.2017.08.005

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　Objective　To understand the etiology and clinical features of childhood bronchiectasis in China. Methods　Data of 182 children diagnosed with bronchiectasis admitted in Children’s Hospital of Chongqing Medical University from 1991 to May, 2015, and more than 20 cases in the Chinese literatures since 1990 were reviewed. Results　The top three causes of bronchiectasis in 182 children (114 boys, 68 girls, median age： 118 months) in Chongqing were post-infection, primary immunodeficiency and foreign body, with frequency of 29.7%, 7.7%, and 7.1%, respectively. Chronic wet cough was the most frequent feature. Diagnosis of bronchiectasis usually need to combine with chest CT findings, which showed that the lesions were at left lower lobe, right middle lobe and right lower lobe. The choice of antibiotics was based on bacterial cultures of respiratory secretions, and Streptococcus pneumoniae was the most frequently isolated bacteria in Chongqing. The most common three causes of bronchiectasis in children according to data of 572 cases ( 347 boys, 225 girls) in 7 cities of China including Chongqing were the same with that of Chongqing, 45.5%, 7.3%, and 5.6%, respectively. Conclusion　Early diagnosis, identification of etiology and comprehensive management of bronchiectasis in children are benefitial for prognosis.

Clinical characteristics and etiological analysis of lung nodules in 98 children　

　LI Jiao, YOU Jingyi, PENG Lu, HU Jing, GAO Ya, SHU Chang

. 2017, 35(8):  585.  doi:10.3969/j.issn.1000-3606.2017.08.006

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Objective　To analyze the clinical features and common etiology of lung nodules in children. Methods 　The etiology, diagnosis, radiological features from 98 hospitalized children of lung nodules were analyzed. Results　Of them, 58 were male and 40 were female aged from 0.2 years old to 14.8 years old. Pulmonary infection were found in 41 cases (41.8%) including tuberculosis in 15 cases (15.3%), pulmonary fungal infection in 13 cases (13.3%), pneumonia in 11 cases (11.2%), lung trematode in 2 cases (2.0%). Pulmonary metastases were found in 28 cases (28.6%), multiple pulmonary arteriovenous fistula in 1 case (1.0%), and pulmonary contusion in 1 case (1.0%) and unknown etiology in 27 cases (27.6%). Conclusions　The etiology of lung nodules is complicated, in which infectious diseases are the most commonly seen, followed by pulmonary metastases. Biopsy is the golden standard of diagnosis.

Analysis on epidemiology and clinical characteristics of 3431 pediatric patients with measles

SUN Binghu, WANG Xiaokang, HU Zhiliang, CHENG Cong, CHI Yun, WEI Hongxia

. 2017, 35(8):  589.  doi:10.3969/j.issn.1000-3606.2017.08.007

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Objective　To analyze the epidemiology and clinical characteristics of the children with measles. Methods　Retrospectively analyzed methods were applied to analyze the timing, and season of the break, age distribution, clinical manifestations and major complications of 3431 children with measles (<12 years) in the Second Hospital of Nanjing from 2008 to 2015. Results　It found that there was a peak incidence of measles in children each in 2009, 2013, and 2015 , peaking in March to May. Onset age of measles mainly within the first year of life, and incidence increased with age within the first 8 months. Typical clinical manifestations are mainly fever, rash, cough, and catarrhal symptoms. The main complications of measles were pneumonia, laryngitis and heart failure. Conclusions　Early diagnosis and effective treatment of the children with measles needs to be strengthened．

Clinical significance of serum interleukin-1β and interleukin-6 levels in childhood hyperuricemia

CHEN Yuanling, WANG Jiapei, SUN Nan, DAI Xiahua, DI Yazhen, SHEN Mengjiao, YING Qianqian

. 2017, 35(8):  592.  doi:10.3969/j.issn.1000-3606.2017.08.008

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　Objective　To explore the significance of interleukin (IL)-1β and IL-6 in serum of children with hyperuricemia (HUA). Methods　142 children including 71 children with HUA (HUA group) and 71 control children (control group), healthy  and inguinal hernia children were selected as control group. 71 HUA children were subdivided into GA (gout attacks) group (n=28) and NGA (non-gout attacks) group (n=43) according to whether they had a history of acute gout attacks, including sudden monoarthritis of rapid onset with intense pain and swelling or without. Enzyme-linked immunosorbent assay was used to measure the level of IL-1β and IL-6 in serum. Results Serum IL-1β and IL-6 levels of HUA children were significantly higher than those of control group (all P<0.05). Serum IL-1β and IL-6 levels of HUA children in GA group were significantly higher than those of NGA group (P<0.05). Serum IL-1β and IL-6 levels of GA group in acute phase was significantly higher than those of HUA children in remission stage、NGA group and control group (P<0.05). Serum IL-1β and IL-6 levels of GA group in remission stage and NGA group was significantly higher than those of control group (P<0.05). There were no significant differences between HUA children in remission stage and NGA group (P>0.05). The serum IL-1β and IL-6 levels of HUA children were positively correlated with WBC, neutrophils, monocytes, uric acid, ESR, CRP, BUN and Cr (all P<0.05), while not correlated with triglyceride, total cholesterol, LDL-C and HDL-C(all P<0.05). Conclusion IL-1β and IL-6 play an important role in the pathogenesis of HUA in children.

Siblings with congenital adrenal cortex hyperplasia (17-α-hydroxylase deficiency) and literature review

　LIU Ziqin, CHEN Xiaobo, SONG Fuying, LIU Ying, QIU Mingfang, QIAN Ye, DU Mu

. 2017, 35(8):  597.  doi:10.3969/j.issn.1000-3606.2017.08.009

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Objective　To report clinical characteristics and genetic results of two sisters suffered from congenital adrenal cortex hyperplasia (17-α-hydroxylase deficiency), and relevant literatures were reviewed. Methods　Clinical manifestation and laboratory examination data of two sister cases of 17-α-hydroxylase deficiency enrolled in Capital Institute of Pediatrics in March 2016 were analyzed. Sanger sequencing and MLPA for CYP17A1 genes were performed and the parents' genes were also verified. Results　The two  patients were four years and 10 years old, both suffered from hypokalemia after infections, and hypergonadotrophin gonad hypofunction. One case was with slightly high blood pressure. Laboratory test results showed potassium fluctuation tendency in 1.9~4.0 mmol/L, 17-OHP and DHEA was decreased. Enhanced CT showed different degree of adrenal gland enlargement. Chromosome examination of the older sister is 46, XY. Both sisters demonstrated heterozygous mutation of CYP17A1 gene.  The molecular genetic analysis suggested a c.985_987delTACinsAA from father and a deletion spanning exons 1-7 of the CYP17A1 gene from mother. Conclusion　17-α-hydroxylase enzyme deficiency can be diagnosed before adolescence. Clinical hypokalemia with unknown reason and high blood pressure may indicate the disease. The diagnosis  can be confirmed with gene sequencing of CYP17A1.

A de novo mutation in GNAS cause severe pseudohypoparathyroidism type Ⅰa　

SHEN Min, LIU Lin, LIU Yang, LU Hongwen, PANG Linan, CHU Xun

. 2017, 35(8):  601.  doi:10.3969/j.issn.1000-3606.2017.08.010

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　Objective　To identify the GNAS gene mutation resulting in pseudohypoparathyroidism type Ia (PHP-Ia) in one patient. Methods　The clinical data of a patient with pseudohypoparathyroidism type Ia was retrospectively analyzed. All the 13 exons of GNAS were sequenced using Sanger method for the patient and the parents. The distribution of suspected causal mutation was screened in 478 healthy controls. To clarify the origin of the mutation, we performed targeted high-depth sequencing of GNAS exon harboring the mutation for the patient and the parents. Results　The clinical data of the patient with the laboratory results of hypocalcaemia, hyperphosphataemia, elevated serum PTH, together with the features of AHO, conformed to the characterization of PHP-Ia. The sequencing of GNAS exons identified a missense mutation (c.479G>C, p.R160P) located at exon 6 in the patient, which was absent in DNA of the parents. The mutation was not reported previously and was not found in the 478 healthy controls. We obtained about  8000-fold coverage from high-depth sequencing of DNA from peripheral blood of the patient and the parents. The disease-associated allele C identified in the patient was not observed in the parents. The number of reads with G allele (3984 reads) was roughly equal to that of C allele (4019 reads) from the targeted reanalysis of DNA of the patient. The results from high-depth sequencing indicated a de novo mutation in maternal germ cells. Conclusions　We identified a new GNAS gene mutation (c.479G>C, p.R160P) caused PHP-Ia in a patient. Our results suggested the mutation was a maternal germline de novo mutation.

The clinical and genetic features of holocarboxylase synthetase deficiency in a male patient　

　ZHENG Hong, LU Tingting, LU Xiangpeng, LI Dongxiao, MA Bingxiang, YANG Yanling

. 2017, 35(8):  605.  doi:10.3969/j.issn.1000-3606.2017.08.011

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　Objective　To investigate the clinical, biochemical and genetic features of a Chinese boy with holocarboxylase synthetase deficiency (HCSD). Methods　The clinical and genetic data of a rare case of HCSD were retrospectively analyzed. Results　After birth, the boy showed development delay. At 3 months old, the boy was started with rehabilitation. Tandem mass spectrum and gas chromatography analysis was carried in the 5th month after birth because of the recurrent upper respiratory tract infection and elevated level of C5-OH in the blood and decreased level of C0，and elevated level of 3-OH-propionic, pyruvic acid, methylcrotonylglycine in the urine were in accordance with the HCSD. Genetic analysis found compound heterozygous mutations of c.1648G>A and c.1544G>A in gene, of which the latter one is novel. After the treatment of biotin (20 mg/d) and L-Carnitine, the condition of this boy was gradually improved. Conclutions　HCSD is characterized with slow onset and inconspicuous manifestations. The confirmed diagnosis can be built with MS/MS, GC/MS analysis and gene mutation analysis. The effect of early biotin treatment is satisfactory. In this study，we carried out clinical and genetic diagnosis，which lays a solid foundation for prenatal diagnosis and early treatment.

Clinical features and PHKG2 gene mutation analysis of 5 Chinese patients with glycogen storage disease Ⅸc　

　ZHOU Diyu,FANG Di, QIU Wenjuan, YE Jun, HAN Lianshu, ZHANG Huiwen, YU Yongguo, LIANG Lili, GU Xuefan

. 2017, 35(8):  609.  doi:10.3969/j.issn.1000-3606.2017.08.012

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Objective　To investigate the clinical, laboratory and genetic features of glycogen storage disease（GSD）IXc. Methods　Five patients suspected as liver GSD were included in our study. DNA was extracted from peripheral blood of all the patients and diagnoses were made after target sequencing to nearly 2700 disease causing genes. All detected mutations were confirmed in the probands and their parents. Further analysis was based on clinical features, routine laboratory examinations and treatment. Results　All the 5 patients manifested with severe hepatomegaly, hypoglycemia, moderately to severely elevated liver enzyme levels, hypertriglyceridemia and growth retardation. Four cases showed poor exercise tolerance but with normal creatine kinase (CK) levels. None of the patients showed liver cirrhosis. Growth velocity and hepatomegaly was improved after the uncooked corn starch treatment was initiated. In the 5 patients, 6 different pathogenic or likely pathogenic mutations in the PHKG2 gene were identified, including one reported mutation (p.E157K) and five novel mutations (p.E56X, p.R185X, c.79_88delinsTCTGGTCG, c.761delC,p.R279C). The p.E157K was the most frequently mutation identified (6/12, 50%). Conclusions　The p.E157K mutation is the hot mutation in our small cohort. Main clinical features of our patients include fasting hypoglycemia, impaired liver function，short statures and poor exercise tolerance, without developing liver cirrhosis.

One case report of Jacobsen syndrome combine with Paris-Trousseau syndrome

　LIN Jun, CHEN Xiaohong, ZHAO Peiwei, HUANG Yufeng, BI Bo, HE Xuelian

. 2017, 35(8):  613.  doi:10.3969/j.issn.1000-3606.2017.08.013

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　Objective　To investigate the clinical features of a patient diagnosed with Jacobsen syndrome (JBS) and ParisTrousseau syndrome (PTS) using chromosomal microarray analysis. Method　A retrospective analysis including the patients’ clinical manifestations, laboratory examination and genetic analysis was carried out and related literature were reviewed. Results A 14 month-old girl with global development retardation was reported. The patient can sit but cannot walk independently. The patient also presented hypsicephaly, ocular hypertelorism, palpebral ptosis, flat nasal bridge, sparse eyebrows, and speech delay. Gesell development scale showed that the patient was global development retarded with a development level of 40 weeks. No o bvious abnormality was found in EEG but the MRI showed cerebral white matter abnormality. This patient was also diagnosed with neonatal thrombocytopenia in other hospital. Genomic CNVs were detected in this girl, and a 15.7Mb loss was found in the 11q23.3q25 region that covers JBS and PTS region. Conclusions　Patient diagnosed with JBS and PTS often present with craniofacial abnormalities, cerebral white matter abnormality and neonatal thrombocytopenia. Chromosomal microarray analysis can help diagnosis.

Gene mutation associated with hemophagocytic lymphohistiocytosis in children　

CHEN Kailan, LI Hui, LI Jianxin, XIONG Hao

. 2017, 35(8):  616.  doi:10.3969/j.issn.1000-3606.2017.08.014

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Objectives　To detect gene mutation associated with hemophagocytic lymphohistiocytosis (HLH) and to identify mutation spectrum and clinical feature in HLH in children. Methods　Thirty-seven (37) pediatric patients diagnosed with HLH according to 2004 clinical and laboratory criteria were enrolled from July 2012 to November 2015. Nucleotide sequences of all exons and their flanking intronic sequences of ten genes associated with HLH were amplified with PCR followed by direct sequencing. Point mutation analysis was performed after the direct sequencing. Results　The median age of all the 37 patients was 2.6 years. The median ages of patients with gene mutation (n=22) and without gene mutation (n=15) was 2.09 years and 2.67 years, without statistical significance. Twenty-two patients were identified with gene mutations. All of them were heterozygous. UNC13D mutation (50%) is of the highest frequency in the above genes. The splicing mutations (38%) were the main type of UNC13D mutations，and missense mutations or frame-shift mutations were also found. There was no statistical difference in ages of onset and laboratory data of neutrophils, thrombocytes, NK cell activities within the three groups: multi-site mutations, single-site mutations and no mutations. EBV infection was detected in 70.3% patients. In mutation group, one patient died when he was in the period of inducing remission, and four patients were relapsed. Among them four patients were infected with EBV and one patients was negative at the onset while positive in recurrence. Conclusions　UNC13D was the predominant causative gene in the Chinese population according our data. There was no significant relevance between age of onset, severity of disease and gene mutations. Attention should be paid to a patient with HLH gene mutation infected by EBV,  which it might mean a poor prognosis.

IPEX with congenital ichthyosiform skin lesions: a case report and literature review

HE Tingyan, XIA Yu, LIANG Fangfang, LUO Ying, JIA Shilei,YANG Jun

. 2017, 35(8):  620.  doi:10.3969/j.issn.1000-3606.2017.08.015

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Objective　To explore the clinical phenotype, treatment and prognosis of immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome, and to improve pediatricians' knowledge of this disease. Methods　Clinical data of a case of IPEX with congenital ichthyosiform skin lesions were retrospectively analyzed, and related literatures China were reviewed. Results　The 2-month-11-day old boy came to our hospital due to ichthyosiform skin lesions accompanied by blood oozing in the head and feet exudatation, with severe sepsis and gastrointestinal perforation. He was died of multiple organ failure. DNA sequencing of whole-genome exon group showed a hemizygous mutation of c.1150G> A, p.A384> T in FOXP3 gene. His mother was a heterozygous mutation carrier, while his father was normal. Conclusions　In addition to typical symptoms including early-onset refractory diarrhea, multiple endocrine disease and growth retardation, IPEX should be considered also in infants with ichthyosiform rash and severe infection. Gene sequencing will help diagnose the disease.

Application of next generation sequencing technology for genetic diagnosis of a case with globoid cell leukodystrophy

MA Xiuwei, ZHAO Jiayan, ZHU Lina, FENG Zhichun

. 2017, 35(8):  625.  doi:10.3969/j.issn.1000-3606.2017.08.016

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　Objective　To explore the clinical, radiological features and gene mutation of GALC gene in one child with globoid cell leukodystrophy (Krabbe disease). Methods　The clinical and radiological data of a patient diagnosed with Krabbe disease through next-generation sequencing were retrospectively analyzed. Sanger sequencing was used to confirm the results. Results　The patient was late infantile form with main manifestations of progressive psychomotor regression and convulsion. Brain MRI showed symmetric long T1 and long T2 signal changes in the white matter next to lateral ventricle angle, posterior limb of internal capsule, and the ministry of corpus callosum. The patient was found to have compound heterozygous mutations of c.1832T>C in exon 15 and c.979T>G in exon 9, which resulted in amino acid changes of p.L611S and p.F327V, respectively. Sanger sequencing results showed that the two heterozygous mutations were correspondingly inherited from his mother and father. Conclusions　Next-generation sequencing technology is a useful tool for the detection of GALC gene mutation, which is valuable for definite diagnosis and differential diagnosis of Krabbe disease in clinical practice.

Effects of gross hematuria on the results in laboratory urine examination

　CUI Jieyuan, ZHANG Hongwen

. 2017, 35(8):  629.  doi:10.3969/j.issn.1000-3606.2017.08.017

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Objectives　To explore the effects of gross hematuria on the results of several parmeters in laboratory urine examination. Methods　Eighty (80) children with IgA nephropathy and 40 cases with acute post-streptococcal glomerulonephritis hospitalized in our hospital from January 2014 to December 2015 were recruited. The ratio of urinary calcium and protein to creatinine, quantitative test of 24 h urinary calcium and protein, quantitative test of 24 h urinary albumin, α1-microglobulinuria, microalbuminuria and urine protein electrophoresis were tested during and after the gross hematuria, respectively. Results　The ratio of urinary calcium and protein to creatinine, quantitative test of 24 h urinary calcium and protein were much higher in the duration of gross hematuria as compared to those after the duration of gross hematuria, while α1microglobulinuria, microalbuminuria and quantitative test of 24 h urinary albumin showed no difference between the two periods. Conclusions　Gross hematuria could increase the level of urinary calcium and protein, while quantitative test of 24 h urinary albremin is not affected.

Progress on genetics and therapy in the spinal muscular atrophy

ZHANG Lei, JIE Xiaolin, LI Juan, CHAI Xiaojing, ZHU Junfang

. 2017, 35(8):  632.  doi:10.3969/j.issn.1000-3606.2017.08.018

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　Spinal muscular atrophy (SMA) is a group of neuromuscular disorders, caused by degeneration of the motor neurons in the anterior horn of the spinal cord, with prevalence of about 1 in 6000 to 1 in 10000 in newborn. The gene carrying frequency is about 1 in 40 to 1 in 50 all over the world. SMA is one of the most common autosomal recessive diseases causing infant death. SMA mainly refers to SMN1 dependent caused by SMN1 gene mutations. Noninvasiveness and specificity  make genetic testing a recommended method for diagnosis of SMA. In addition to conventional methods such as neural nutrition, muscle exercise, etc., there is no specific treatment for SMA up to now. Nevertheless, HDAC inhibitors deserve attention as they are the only drugs completed Phase Ⅲ clinical trials to date. Furthermore, other ways as small-molecule SMN enhancers, induced pluripotent stem cell (iPSC), antisense oligonucleotides to correct SMN2 splicing, etc, were still on the way of in vitro stage at present.