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Table of Content

    15 October 2019 Volume 37 Issue 10
      
    Identification of mutations associated with intravenous immunoglobulin resistance in Kawasaki disease
    CHEN Liqin, SONG Sirui, ZHANG Han, et al
    Journal of Clinical Pediatrics. 2019, 37(10):  721.  doi:10.3969/j.issn.1000-3606.2019.10.001
    Abstract ( 260 )   PDF (1163KB) ( 275 )  
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     Objective To identify genes associated with intravenous immunoglobulin (IVIG) resistance in Kawasaki disease (KD) through targeted enrichment technology, and to screen the high-risk population of KD. Method A total of 190 KD patients (33 IVIG non-responders and 151 IVIG responders) admitted from December 2016 to October 2018 and 99 healthy check-up children were selected. The genomic DNA of peripheral venous blood from the patients was collected, and the gene differences between the two groups were analyzed and compared by targeting capture and sequencing technology. Result There were significant differences in genotypes of FCGR3A (rs77144485), IL15RA (rs2228059) and IL6 (rs13306435) between KD children and healthy children (all P<0.05). There were significant differences in genotype frequencies of 10 single nucleotide polymorphisms (SNPs) loci in IL-2RB, IL-24, BMPR1A, GZMB, KDR, KIR2DS4, CARD11 and CHUK between IVIG resistant group and IVIG responsive group (all P<0.05). Conclusion IL-2RB, IL-24, BMPR1A, GZMB, KDR, KIR2DS4, CARD11, CHUK were found to be significantly different in IVIG resistant group and IVIG responsive group by targeted enrichment technology.
    The correlation between severity of atopic dermatitis and vitamin D level in children
    LI Meiyun, XIE Li, HE Huan, et al
    Journal of Clinical Pediatrics. 2019, 37(10):  727.  doi:10.3969/j.issn.1000-3606.2019.10.002
    Abstract ( 291 )   PDF (1154KB) ( 243 )  
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    Objective To study the correlation of serum vitamin D [25(OH)D] levels with the severity of childhood atopic dermatitis (AD). Methods A total of 152 children with AD were enrolled. The severity of AD was assessed by SCORAD. Serum 25(OH)D levels were determined by liquid chromatography tandem mass spectrometry (LC-MS/MS). The correlation between the severity of AD and serum 25 (OH) D levels was analyzed. Results In the 152 children (81 males, 71 females) with AD, the median age was 3.5 years. There were 51 cases of mild AD (33.6%), 80 cases of moderate AD (52.6%), and 19 cases of severe AD (12.5%). Vitamin D was sufficient in 55 cases (36.2%), insufficient in 65 cases (42.8%), and deficient in 32 cases (21.1%). The SCORAD score in children with AD was not correlated with serum 25 (OH) D levels (r=?0.047, P=0.567), while positively correlated with total serum IgE (r=0.244, P=0.003) and the percentage of blood eosinophils (r=0.239, P=0.004). Conclusions Serum vitamin D insufficiency and deficiency were more common in AD children, but the severity of AD was not significantly correlated with serum 25 (OH) D levels.
    Th17/Treg in juvenile idiopathic arthritis with atopy
    XUE Haiyan, CHEN Wei, TU Zhiqiang, et al
    Journal of Clinical Pediatrics. 2019, 37(10):  731.  doi:10.3969/j.issn.1000-3606.2019.10.003
    Abstract ( 310 )   PDF (1161KB) ( 172 )  
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     Objective To explore the effects of atopy on the disease activity of juvenile idiopathic arthritis (JIA) in children and the role of Th17/Treg imbalance. Methods Forty-seven JIA patients with atopy (atopic group), 64 patients with simple JIA (simple group) and 20 healthy control children (control group) were enrolled. The levels of IL-1β, IL-6, and IL17 in serum were detected by ELISA, the ratio of Th17 and Treg cells in peripheral blood lymphocytes was detected by flow cytometry, and the expressions of IL-17 and Foxp3 in peripheral blood mononuclear cells were detected by RT-q PCR. The differences in above indicators between the three groups were compared. Meanwhile, the difference of disease activity index between the two JIA groups was compared. Results The serum levels of IL-1β, IL-6 and IL-17, the ratio of Th17 and Treg cells in lymphocytes and the expression levels of IL-17mRNA and Foxp3 mRNA were significantly different among control group, simple JIA group and atopic group (all P< 0.01). The serum levels of IL-1β, IL-6, and IL-17 in the atopic group and the simple JIA group were higher than those in the control group, and theywere higher in the atopic group than in thesimple group. The differences are statistically significant (all P<0.05). The percentage of Th17 cells in lymphocytes and the expression levels of IL17 mRNA were the highest in the atopic group and the lowest in the control group. The percentage of Treg cells in lymphocytes was the lowest in the atopic group and the highest in the control group. The platelet count, physician global assessment of disease activity (PGA), patient or parent global evaluation of well-being (PGE), children health assessment questionnaire (CHAQ), active joint count, restricted joint countand juvenile arthritis disease activity score (JADAS)-27 in atopic group were significantly higher than those in simple JIA group, and the difference was statistically significant (all P<0.05). Conclusion Higher disease activity in JIA children with atopy may be related to increased IL-1β and IL-6 levels and Th17/Treg imbalance more toward Th17.
    Neonatal hemochromatosis: a case report and literature review
    YUAN Chenling, WEI Dong, GONG Xiaohui, et al
    Journal of Clinical Pediatrics. 2019, 37(10):  736.  doi:10.3969/j.issn.1000-3606.2019.10.004
    Abstract ( 353 )   PDF (1418KB) ( 205 )  
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     Objective To explore the diagnosis and treatment of neonatal hemochromatosis (NH). Method The clinical data of NH in a child were retrospectively analyzed and the related literature was reviewed. Result A female infant showed no obvious abnormalities in fetal and birth examinations. Skin yellowing occurred 8 hours after birth and aggravated progressively, and no improvement was observed after transfusion and albumin infusion. Liver pathology showed diffuse ballooning of hepatocytes with multinucleated giant hepatocyte transformation, intrahepatic cholestasis with formation of bile duct dilatation and thrombosis, scattered extramedullary hematopoietic foci, and a large number of brownish yellow particles deposited in hepatocytes. Prussian blue staining showed iron deposition, and NH was diagnosed. Subsequently, the patient was treated with N-acetylcysteine and the disease was gradually improved. Conclusion NH is a severe liver disease with extrahepatic hemosiderin deposition in neonatal period. Iron deposition in hepatocytes by liver pathological examination is the gold standard for diagnosis.
    Clinical characteristics and biochemical immunoassay of chronic mucocutaneous candidiasis due to gain-offunction mutations in STAT1 in 5 children
    GAN Chuan, XU Hongmei
    Journal of Clinical Pediatrics. 2019, 37(10):  739.  doi:10.3969/j.issn.1000-3606.2019.10.005
    Abstract ( 214 )   PDF (1159KB) ( 158 )  
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    Objective To explore the clinical features, biochemical and immunological findings of chronic mucocutaneous candidiasis (CMC) due to gain-of-function mutations in STAT1 in children. Method The clinical data of CMC in 5 children diagnosed by genetic examination from 2016 to 2019 were retrospectively analyzed. Results In 5 patients (4 males, 1 female) the mean age at onset was 4.2±3.6 months (1-10 months). The mucosal infection was found in all of 5 cases, recurrent respiratory tract infection in 4 cases, skin infection in 4 cases, repeated candidiasis of fingernails and toenails in 3 cases, Hashimoto's thyroiditis in 2 cases, and hypothyroidism, hypoparathyroidism, hypoadrenocorticism and dwarfism in one case each. The gene mutation sites of the 5 children were all located in STAT1, which were c.849G >T, c.988C >A, c.862A > G, c.1154C >T, and c.974T >A, respectively. IgG and IgE were normal in 5 cases, and IgA and IgM were significantly reduced in 2 cases. One patient had decreased CD3+ cells, 1 patient had decreased CD3+CD4+ cells, and 1 patient had significantly decreased CD19 cells. Decreased CD3+ cells, CD3+CD4+ cells and CD19 cells were found in one case each. There was no abnormality in the blood cell count of the 5 children, There were the significantly increased anti-thyroglobulin antibody and anti-thyroid peroxidase antibody in 2 cases, and the decreased parathyroid hormone in 1 case and decreased cortisol in 1 case. Two cases were positive in G test, but no invasive fungal infection was found. Conclusions Repeated Candida infection of skin, mucosa and nails is an important clinical manifestation of CMC. Screening of immune function is suggestive, and gene testing is required to confirm the diagnosis.
    Acute disseminated encephalomyelitis with thyroid dysfunction in children: 3 case report and literature review
    WANG Yuanyuan, ZHENG Huacheng, CUI Xiaopu, et al
    Journal of Clinical Pediatrics. 2019, 37(10):  744.  doi:10.3969/j.issn.1000-3606.2019.10.006
    Abstract ( 264 )   PDF (2178KB) ( 187 )  
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    Objective To explore the clinical features and diagnosis of acute disseminated encephalomyelitis (ADEM) in children with thyroid dysfunction. Methods The clinical data of ADEM with thyroid dysfunction in 3 children were retrospectively analyzed, and the related literature was reviewed. Results There were two boys (3 years and 10 months old, 12 years old) and one girl (8 years old). All the children had fever prior to theonset, 2 patients hadincreased sleep, 1 patient hadirritability, and 1 patient hadfacial nerve abnormality. Thyroperoxidase was elevated in all 3 children and correlated with the severity of symptoms. During the recovery period, thyroperoxidase was decreased in 2 children and not significantly changed in 1 child. Electroencephalogram showed that the background activity was decreased in 3 cases. Brain magnetic resonance imaging (MRI) showed abnormal in 3 cases, and neck MRI showed abnormal in 2 cases. Conclusions ADEM with thyroid dysfunction is rare and should be differentiated from Hashimoto encephalopathy.
    Clinical features, diagnosis, and treatment of aerophagia in children: a report of 35 cases
    DENG Yan, SU Yangna, ZHANG Huihua, et al
    Journal of Clinical Pediatrics. 2019, 37(10):  749.  doi:10.3969/j.issn.1000-3606.2019.10.007
    Abstract ( 271 )   PDF (1122KB) ( 265 )  
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    Objective To explore the clinical features, diagnosis and treatment of aerophagia in children. Methods The clinical data of aerophagia in 35 children diagnosed and treated from January 2014 to December 2018 were retrospective analyzed, and the relevant literature was reviewed. Results In the 35 children (24 males, 11 females) with a median age was 57 months and a median disease course was 3 months. Gas swallowing and abdominal distension were found in all cases, followed by abdominal pain or abdominal discomfort in 20 cases (57.14%), belching in 15 cases (42.86%), vomiting in 11 cases (31.43%), loose stool in 10 cases (28.57%), and increased flatus in 9 cases (25.71%). Other symptoms included constipation in 6 cases (17.14%), loss of appetite in 5 cases (14.29%), weight loss in 5 cases (14.29%), and headache in 2 cases (5.71%). And 19 children (54.29%) had the suspected triggers. The abdominal X-ray showed bowel distension without gas-fluid levels. According to the triggers and the condition, the children were educated to reduce gas swallowing and had the symptomatic treatment. The symptoms in 33 patients (94.29%) were alleviated. Two patients (5.71%) with mental retardation showed poor efficacy and 5 patients (14.29%) had recurrent symptoms. Conclusions Aerophagia can occur in children of all ages. There are a certain triggers for aerophagia. The main clinical features of aerophagia were diffuse abdominal distention and gas swallowing. The bowel distension without gas-fluid levels shown by X-ray can be the only characteristic discovery.Targeted therapy for removal of incentives is more effective in the treatment of aerophagia.
    Effect of hyponatremia on prognosis of heart failure in children
    JIN Ling, YANG Tong, LONG Xingjiang
    Journal of Clinical Pediatrics. 2019, 37(10):  752.  doi:10.3969/j.issn.1000-3606.2019.10.008
    Abstract ( 234 )   PDF (1142KB) ( 180 )  
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     Objectives To explore the relationship of hyponatremia with severity and prognosis of heart failure in children.Methods The serum sodium level, clinical characteristics and prognosis of heart failure in 171 children were analyzed retrospectively. Results In the 171 children (90 males, 81 females), an average age was 3.0±1.1 years. There were 72 cases of mild heart failure, 54 cases of moderate heart failure, and 45 cases of severe heart failure. Among 171 children, 103 (60.23%) had hyponatremia. The incidence of hyponatremia in children with mild, moderate and severe heart failure was 48.61%, 55.56% and 84.44% respectively The differences were statistically significant (P<0.001). The differences in serum sodium levels among the three groups were also statistically significant (P<0.001), and serum sodium levels gradually decreased with the aggravation of heart failure. The mortality of children with mild, moderate and severe heart failure complicated with hyponatremia was 2.86%, 20.00% and 71.05% respectively. The differences were statistically significant (P<0.001). There was a significant negative correlation between serum sodium level and the severity of heart failure (r=0.28, P<0.001). Logistic regression analysis showed that the risk of death was higher at lower level of serum sodium, (OR=0.16, 95%CI: 0.06~0.44). Conclusions Hyponatremia is closely related to the severity and prognosis of heart failure in children.
    A study on language development norms of children aged 1-6 in Jiangsu city
    XU Yaqin,CHENG Pamela,CHI Xia, et al
    Journal of Clinical Pediatrics. 2019, 37(10):  756.  doi:10.3969/j.issn.1000-3606.2019.10.009
    Abstract ( 275 )   PDF (1219KB) ( 273 )  
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    Objective To establish a language development norms for children aged 1-6 years in Jiangsu city. Methods The self-made Language Development Scale for Children Aged 1-6 was standardized, including scale score norm and percentile norm. Results A total of 1093 children (553 males and 540 females) aged from 1 year 6 months to 6 years 9 months were included from four cities in Jiangsu Province. The scale has good reliability and validity. The standard score ?1.33 SD was taken as the threshold point, and any value below this value was considered as the language delay. The sensitivity and specificity of diagnosing language delay were 97.44% and 78.21%, respectively. Conclusion The norm sample of the Language Development Scale for Children Aged 1-6 is representative, and the statistical indicators of the scale meet the requirements of psychometrics. It has high clinical value in the language assessment of children aged 1-6 years in Jiangsu city.Key words: children language norm sensitivity specificity reliability validity
    Value of focused assessment with sonography for trauma combined with hepatic transaminase in diagnosis of blunt abdominal trauma in children
    TONG Haiting, PAN Shuming, DU Qirong, et al
    Journal of Clinical Pediatrics. 2019, 37(10):  761.  doi:10.3969/j.issn.1000-3606.2019.10.010
    Abstract ( 203 )   PDF (1146KB) ( 183 )  
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    Objective To explore the value of focused assessment with sonography for trauma (FAST) combined with aspartate aminotransferase (AST)/alanine aminotransferase (ALT) in diagnostic of blunt abdominal trauma (BAT) in children. Method The clinical data of emergency BAT in children from January 2015 to January 2018 were retrospectively analyzed. The children who performed the examinations of FAST, abdominal CT and serum AST/ALT simultaneously were selected as study subjects. Children with FAST positive and AST>200 IU/L and/or ALT>125 IU/L were selected as group A, while children with FAST positive and AST>400 IU/L and/or ALT>200 IU/L were selected as group B. Taking CT examination results as the gold standard, the sensitivity, specificity, positive predictive value, negative predictive value and accuracy of the diagnosis of BAT in FAST group (group A and group B) were compared. Results A total of 1588 BAT children were included, and 209 of them completed FAST, CT and serum AST/ALT examinations. Among the 209 children, 51 (24.4%) were positive in CT examination. Taking CT examination results as the gold standard, the sensitivity, specificity, positive predictive value, negative predictive value and accuracy of BAT diagnosis were 51.0%, 94.9%, 76.5%, 85.7% and 84.2% respectively when using FAST. The sensitivity, specificity, positive predictive value, negative predictive value and accuracy of BAT diagnosis were 88.2%, 93.7%, 81.8%, 96.1% and 92.3% respectively in group A. The sensitivity, negative predictive value and accuracy of group A were higher than those of FAST, and the differences were statistically significant (P<0.05). The sensitivity, specificity, positive predictive value, negative predictive value and accuracy of BAT diagnosis were 58.8%, 93.7%, 75.0%, 87.6% and 85.2%, respectively in group B and there was no difference between group B and FAST (P > 0.05). Nine of the 10 children with surgery were FAST positive or serum AST > 400 IU/L or ALT > 200 IU/L. Conclusion FAST combined with serum AST>200 IU/L and/or ALT>125 IU/L can be used as an effective screening tool for diagnosis of BAT in children. For children with FAST positive but serum AST>400 IU/L or ALT>200 IU/L, CT examination is recommended for those with hemodynamic stability, which can not only ensure the safety of children, but also reduce unnecessary CT radiation damage.
    Mycoplasma pneumoniae pneumonia complicated with pulmonary embolism in children: a case report
    QIN Yanran, WANG Huahua, WANG Yan, et al
    Journal of Clinical Pediatrics. 2019, 37(10):  765.  doi:10.3969/j.issn.1000-3606.2019.10.011
    Abstract ( 226 )   PDF (1481KB) ( 191 )  
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     Objective To explore the clinical diagnosis and treatment of Mycoplasma pneumoniae pneumonia complicated with pulmonary embolism in children. Method The clinical data of Mycoplasma pneumoniae pneumonia complicated with pulmonary embolism in a child were retrospectively analyzed. Results A 10-year-old female patient presented with cough, fever and tachypnea. The titer of Mycoplasma pneumoniae antibody was 1:320, the anti-cardiolipin antibody IgM was positive, and the D-dimer level was 42.4 μg/mL. CT pulmonary angiography suggested a pulmonary embolism. After the diagnosis of mycoplasma pneumonia and pulmonary embolism, azithromycin was given for anti-infection, warfarin and low molecular weight heparin calcium were given for anticoagulation and circulation improvement, atomization technique was given to eliminate phlegm. After 3 months of anticoagulation therapy, pulmonary embolism was cured. Conclusions If the child with Mycoplasma pneumoniae pneumonia has dyspnea and chest pain accompanied by positive anti-cardiolipin antibody and increased D-dimer, pulmonary embolism should be considered and pulmonary artery CT angiography should be timely performed to make a clear diagnosis.
    Pulmonary mucormycosis after chemotherapy in children with leukemia: a case report and literature review
    CHEN Yingying, ZHENG Hao, CHEN Cai, et al
    Journal of Clinical Pediatrics. 2019, 37(10):  769.  doi:10.3969/j.issn.1000-3606.2019.10.012
    Abstract ( 194 )   PDF (1588KB) ( 182 )  
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     Objective To raise awareness of pulmonary mucormycosis in children with leukemia after chemotherapy. Methods The clinical data of a child with acute B-lymphocytic leukemia (B-ALL) complicated with pulmonary mucormycosis after induction chemotherapy were retrospectively analyzed, and the related literatures were reviewed. Results A 2-year-old girl was diagnosed with B-ALL. She developed pulmonary infection and pyopneumothorax in the period of bone marrow suppression after induction of chemotherapy. The clinical manifestations were chest pain and hemoptysis. Pulmonary CT showed right lower lung consolidation. Multiple cultures of sputum and pleural fluid were negative. Rhizopus oryzae was detected in the pleural effusion by high-throughput sequencing of the pathogens on the 22nd day after pneumothorax, and the pathogenic diagnosis was confirmed by fibrobronchoscopic biopsy. Liposomal amphotericin B (LAmB) intravenous infusion and amphotericin B (AmB) aerosol inhalation were given. On the 55th day of pneumothorax, the thoracic drainage tube was removed and the posaconazole was orally administered sequentially. After the treatment for more than 2 months, the lung CT scan showed that the right lower lung consolidation lesions were reduced. Fiberoptic bronchoscopy revealed granulation hyperplasia in the right inferior lobar bronchi. A mirror-assisted argon gas knife cleaning was performed. Posaconazole was orally administered sequentially and the chemotherapy for leukemia was continued. After 10 months, the lung lesions were obviously absorbed. Conclusions Pulmonary mucormycosis has vascular invasiveness and is highly malignant. High throughput sequencing of infectious pathogens is helpful for early diagnosis. The combination of amphotericin B liposomes and surgery can improve prognosis.
    Related factors of complications of esophageal foreign body in children
    ZHOU Ziru, SHANG Wanyuan
    Journal of Clinical Pediatrics. 2019, 37(10):  774.  doi:10.3969/j.issn.1000-3606.2019.10.013
    Abstract ( 163 )   PDF (1150KB) ( 226 )  
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     Objective To explore the risk factors of complications of esophageal foreign body in children. Methods The clinical data of 126 children with diagnosed esophageal foreign body who received endoscopic foreign body removal were analyzed retrospectively. Results Among the 126 patients, 82 were boys and 44 were girls, with a median age of 2.5 years (1 month to 16 years). A total of 95 cases (75.4%) suffered from esophageal mucosal injury, esophageal inflammation and esophageal perforation. Logistic regression analysis showed that age, time of foreign body incarceration and type of foreign body incarceration were the influencing factors for the occurrence of complications of esophageal foreign body (P<0.05). The older the age, the lower the risk of complications (OR=0.21, 95%CI: 0.09~0.48). The longer the time of foreign body impaction (OR=2.12, 95%CI: 1.01~4.45), the greater the risk of complications. When the foreign body type was long/sharp (OR=23.22, 95%CI: 2.03~266.21), the risk of complications increased. Conclusions The risk of complications caused by incarceration of esophageal foreign bodies in children is high. Medical intervention should be taken as soon as possible to remove incarcerated foreign bodies and reduce complications.
    Ischemic damage of immature white matter and abnormal signal transduction of glutamate
    HE Yafang, ZHANG Jianhua, CHEN Huijin, et al
    Journal of Clinical Pediatrics. 2019, 37(10):  777.  doi:10.3969/j.issn.1000-3606.2019.10.014
    Abstract ( 148 )   PDF (2134KB) ( 125 )  
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     Objective To explore the damage of ischemia-induced abnormal glutamate signal transduction on immature white matter. Method Oligodendrocyte (OL) precursor oxygen-glucose deprivation (OGD) cell model and ischemic periventricular leukomalacia (PVL) animal model were prepared in 2-day-old neonatal rats. Cells and supernatants were collected 24 hours after OGD. Extracellular glutamate concentration of OL precursor was measured by high performance liquid chromatography, and intracellular calcium concentration and apoptotic rate of OL precursor were measured by flow cytometry. Neonatal rats were sacrificed on the 5th day after the establishment of the model. The pathological evaluation of white matter were performed by light microscopy, and myelin basic protein (MBP) positive mature OL were detected by immunohistochemistry and the myelination of white matter was evaluated by electron microscopy. Results In vitro, compared with the normal OL precursors deprived of anaerobic sugar, OL precursors in OGD group showed significant accumulation of extracellular glutamate (P<0.01), the significantly increased intracellular calcium concentration (P<0.01), and the significantly increased apoptosis rate and necrosis rate of OL precursors (P<0.01, P<0.05). In vivo, compared with normal newborn rats in sham group, all rats in PVL group showed mild or severe pathological changes in white matter, MBP positive mature OL in white matter was significantly reduced, and myelin formation was also malformed, which was manifested as significantly reduced number of myelin sheath and significantly thinner myelin sheath thickness (all P<0.01). Conclusions Immature white matter has the glutamate signaling characteristics similar to that of mature white matter. Ischemia induces abnormal signal transmission of glutamate in immature white matter.
    Hereditary thrombocytopenic purpura in infant: a case report 
    WU Shuangshuang, WANG Yue, MA Cui, et al
    Journal of Clinical Pediatrics. 2019, 37(10):  782.  doi:10.3969/j.issn.1000-3606.2019.10.015
    Abstract ( 140 )   PDF (1485KB) ( 129 )  
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    Objective To explore the diagnosis and treatment of hereditary thrombocytopenic purpura (TTP). Method The clinical data of hereditary TTP in a child was retrospectively analyzed. Results A girl suffered from recurrent jaundice, irritability, anemia, thrombocytopenia, and proteinuria soon after birth. Gene sequencing showed two heterozygous mutations in the exon of ADAMTS13 gene, c.3616C > T (cytosine > thymine) and c.334delG deletion mutations, which came from parents respectively, belonged to compound heterozygous mutations and accorded with autosomal recessive inheritance. The diagnosis of hereditary TTP of thrombotic microangiopathy was definitely made and it recurred many times. The therapeutic plasma infusion had good effect. Conclusion In case of clinically typical or atypical hemolytic anemia accompanied by thrombocytopenia, kidney damage, clinician should be vigilant to possibility of hereditary TTP. Gene testing is helpful for diagnosis. The plasma infusion can be used to treat hereditary TTP.
    Merosin-deficient congenital muscular dystrophy type 1A: a case report and literature review 
    SUO Guihai, TANG Jihong, FENG Jun, et al
    Journal of Clinical Pediatrics. 2019, 37(10):  785.  doi:10.3969/j.issn.1000-3606.2019.10.016
    Abstract ( 148 )   PDF (1342KB) ( 113 )  
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     Objectives To explore the clinical characteristics and diagnostic methods of congenital muscular dystrophy caused by LAMA2 gene mutation. Methods The clinical data of merosin-deficient congenital muscular dystrophy type 1A (MDC1A) in a child were retrospectively analyzed. Results The boy first visited the hospital at 2 years and 2 months of age. His clinical manifestations were psychomotor retardation, inability to stand and walk, and slurred speech. The levels of creatine kinase were significantly increased. MRI indicated that the white matter around the anterior and posterior horn of bilateral ventricles and the deep center of the centrum semiovale showed long T1, long T2 and FLAIR sequence high signal. Genetic testing revealed that the child had a complex heterozygous mutation which was splicing mutation derived from the father (c.47181G>A) and frameshift mutation derived from the mother (c.4529delC). No such reports have been found in the literature and databases. According to the ACMG guidelines, both variants were considered pathogenic, and the child was diagnosed with MDC1A. Conclusions MDC1A is caused by LAMA2 gene mutation. Muscle biopsy and LAMA2 gene detection can make a definite diagnosis. The genetic mutations found in this study are reported for the first time and it expands the gene mutation spectrum of congenital muscular dystrophy.
    A new GBE1 mutation that causes glycogen accumulation disease type IV: a case report and literature review
    ZHONG Ren, SI Shaoyong, WANG Yilin, et al
    Journal of Clinical Pediatrics. 2019, 37(10):  788.  doi:10.3969/j.issn.1000-3606.2019.10.017
    Abstract ( 161 )   PDF (1154KB) ( 186 )  
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     Objective To explore the clinical characteristics of glycogen accumulation disease type IV (GSD IV) caused by GBE1 gene mutation in a child and the genetic mutations in the families. Methods The clinical manifestations, liver pathological results and parental all-exon gene sequencing of a child with GSD IV were analyzed and therelated literature was reviewed. Results A 1-year-and 10-month-old boy suffered from hepatosplenomegaly for more than 6 months and fever for 7 days. Liver histopathology showed chronic liver injury, and genetic metabolic disease could not be excluded. Whole-genome exon detection showed that the child had two new heterozygous mutations in GBE1 gene, the heterozygous mutation from the father (c.1694G>A, pathogenic mutation) and the heterozygous mutation from the mother (c.218A>G, suspected pathogenic mutation). Combined with the clinical manifestations, pathology and genetic test results, the patient was diagnosed with hepatic GSD IV. Conclusions The newly discovered pathogenic heterozygous mutationof GEB1 gene,C.1694G>A,enriches the mutation spectrum of GSD IV in Chinese population.
    Congenital sideroblastic anemia in infants: a case report and literature review 
    WU Shuangshuang, WANG Yue, XUE Lu, et al
    Journal of Clinical Pediatrics. 2019, 37(10):  791.  doi:10.3969/j.issn.1000-3606.2019.10.018
    Abstract ( 133 )   PDF (1312KB) ( 308 )  
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    Objective To explore the genetic changes, clinical manifestations, diagnosis and treatment of congenital sideroblastic anemia in infants. Method The clinical data of congenital sideroblastic anemia in a child were retrospectively analyzed. Results A 5-month-old boy visited for pale complexion. Laboratory examination showed microcytic hypochromic anemia with serum iron of 58.30 μmol/L. Iron staining of bone marrow smears showed the outer iron was +++, and the inner iron accounted for 76%, of which the ring iron was 54%. High-throughput sequencing showed that the ALAS2 gene has a hemizygote mutation, C.1565C > A, which was predicted a harmful mutation by bioinformatics software and may affect the function of proteins. The mother of the child had a heterozygous mutation, which belonged to X-linked recessive inheritance. Literature was reviewed and no report was found. The child was clinically diagnosed with congenital sideroblastic anemia and was effectively treated with vitamin B6. Conclusion Congenital sideroblastic anemia is rare, and a novel hemizygous mutation in the ALAS2 gene has been found.
    HHH syndrome caused by SLC25A15 gene complex heterozygous mutation: a case report
    MAO Yingying, CHEN Qian, JI Xinna, et al
    Journal of Clinical Pediatrics. 2019, 37(10):  794.  doi:10.3969/j.issn.1000-3606.2019.10.019
    Abstract ( 215 )   PDF (1499KB) ( 168 )  
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     Objective To explore the clinical and gene mutation characteristics of hyperornithinemia-hyperammoniahyperhomocysteinuria (HHH syndrome). Methods The clinical data of HHH syndrome in a child were retrospectively analyzed and the literature was reviewed. Results A girl, aged 2 years and 2 months, had an aversion to high-protein foods. The child's reaction was weak after birth, and the ataxia occurred when she walked alone and was aggravated after infection. Laboratory tests showed hyperammonia, elevated transaminase and abnormal coagulation. Head MRI showed decreased white matter volume in the semioval center. The genetic test showed that the child carried compound heterozygous mutations of SLC25A15 gene, c.190T>C (p.Y64H) and c.278G>A (p.R93Q), which were derived from her parents with normal phenotype. Conclusion The main clinical manifestations of HHH syndrome are involvement of nervous system and liver, and required to be differentiated from other urea circulatory disorders and liver diseases. The newly discovered SLC25A15 gene locus mutation may be the pathogenic site of HHH syndrome.
    Benefits of staging of infant formula for special medical purpose
    Cai Meiqin
    Journal of Clinical Pediatrics. 2019, 37(10):  798.  doi:10.3969/j.issn.1000-3606.2019.10.020
    Abstract ( 70 )   PDF (984KB) ( 65 )  
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