Journal of Clinical Pediatrics

Importance of early screening of children at high risk of allergic diseases

HU Yan, MAO Meng

Journal of Clinical Pediatrics. 2020, 38(12): 881. doi:10.3969/j.issn.1000-3606.2020.12.001

Abstract ( 336 )

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Analysis of characteristics and correlation of cytokines in bronchoalveolar lavage fluid in children with Mycoplasma pneumoniae pneumonia

XIE Xiaohong, WANG Chongjie, ZHANG Guangli, et al

Journal of Clinical Pediatrics. 2020, 38(12): 884. doi:10.3969/j.issn.1000-3606.2020.12.002

Abstract ( 409 )

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Objective? To analyze the characteristics of cytokines in bronchoalveolar lavage fluid (BALF) of Mycoplasma pneumoniae pneumonia (MPP) patients and its influence factors and correlations with biochemical index in peripheral blood. Method The clinical data of 122 children with MPP who underwent bronchoscopy were retrospectively analyzed, and the indicators and cytokines were compared between groups. Results In the MPP children ( 62 boys and 60 girls) aged 4 years old ( 1 to 14 years) on average, severe MPP was found in 37 patients. In BALF, two cytokines that were elevated most were IL-6 and TNF-α. The levels of IL- 6 , TNF - α, IL- 10 , and IFN-γ in BALF were significantly different between fever group and non-fever group, between persistent fever group, and fever regression group, and between azithromycin effective and ineffective groups (P< 0. 05 ). The levels of IL- 6, TNF-α, IFN-γ, and IL- 17 A in severe MPP group were significantly higher than those in mild MPP group. The levels of TNF-α, IL- 10 , and IFN-γ in high load group were significantly higher than those in low load group. The levels of IL- 6 and TNF-α in lung consolidation group were significantly higher than those in lung patch shadow group (all P<0. 05 ). There were positive correlations between levels of D-dimer and cytokines IL- 6, IL- 10, IFN - γ, and TNF-α in BALF of MPP children (r= 0 . 323 ~ 0 . 452 , P< 0 . 001 ). Peripheral blood lactate dehydrogenase (LDH) level was positively correlated with IL- 6 , TNF-α, and IFN-γ levels in BALF (r=0.229~0.347, P< 0 . 01 ). The serum albumin level was negatively correlated with levels of cytokines IL- 6 , IL- 10 , TNF- α, and IFN - γ in BALF (r=-0 . 260 ~-0 . 214 , P< 0 . 05 ). Conclusion? Local inflammatory response in MPP children is dominated by IL- 6 and TNF-α. The severity of MPP, the presence of fever, persistent fever during bronchoscopy, MP load, and types of pulmonary lesions and the therapeutic effect of azithromycin all affect the levels of BALF cytokines. D-dimer, LDH and albumin in peripheral blood of MPP children are correlated with BALF cytokines and they play certain roles in guidance for the assessment of lung inflammation.

Diagnostic value of metagenomics next-generation sequencing of bronchalveolar lavage fluid for mixed infection in children with severe Mycoplasma pneumoniae pneumonia

MA Caixia, CHEN Jinglong, LU Yong, et al

Journal of Clinical Pediatrics. 2020, 38(12): 891. doi:10.3969/j.issn.1000-3606.2020.12.003

Abstract ( 752 )

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Objective To explore the diagnostic value of metagenomics next-generation sequencing (mNGS) of bronchalveolar lavage fluid (BALF) for mixed infection in children with severe Mycoplasma pneumoniae pneumonia (MPP). Methods From June 2019 to December 2019 , children with severe MPP who need bronchoalveolar lavage treatment were enrolled. BALF was detected by traditional pathogen detection and mNGS at the same time. BALFs were sent for traditional pathogen detection and metagenomics next-generation sequencing. The diagnostic efficacy of the two detection methods for the mixed infection in severe MPP was analyzed. Results A total of 47 ( 23 males and 24 females) children with severe MPP were enrolled and median age was 58 . 0 ( 38 . 0 ~ 81 . 0 ) months. Radiography showed pulmonary consolidation/atelectasis in 31 cases, pleural effusion in 10 cases, and pneumomediastinum in 2 cases. Bronchoscopy revealed that 28 children had obvious mucosal necrosis, poor ventilation, or phlegm formation. The BALF of 47 children was detected by both traditional pathogen detection and mNGS detection, and both methods detected that all children were Mycoplasma pneumoniae positive. Traditional pathogen detection of BALF found mixed infection in 2 cases (4.3%). By mNGS detection, mixed infection was found in 23 cases (48.9%), which was significantly higher than that in traditional pathogen detection. The difference was statistically significant (P< 0 . 001 ). The top three pathogens detected by mNGS were adenovirus type 7 ( 11 cases, 23 . 4 %), Streptococcus pneumoniae ( 5 cases) and Mycobacterium abscess ( 5 cases). Conclusions The BALF mNGS has a higher detection rate of mixed infection in pediatric severe MPP than traditional detection methods, especially for the detection of combined virus infection. It is helpful for early virus typing and viral load analysis.

Correlation between impulse oscillometry and routine pulmonary function tests in asthma in children

HUANG Lizhen, HAO Chuangli, JIANG Wujun, et al

Journal of Clinical Pediatrics. 2020, 38(12): 896. doi:10.3969/j.issn.1000-3606.2020.12.004

Abstract ( 501 )

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Objective To explore the correlation between impulse oscillometry (IOS) and routine pulmonary function tests (PFT) in asthmatic children. Methods The children with asthma visited from May to December 2019 were included as the research objects. On the same day of visiting, IOS and subsequent PFT test were performed to analyze the correlation between the two different lung function test methods. Results A total of 180 children ( 109 boys and 71 girls) were included and a median age was 8 years. During the acute stage, the airway resistance at 5 Hz (R5), resistance at 5 Hz minus resistance at 20 Hz (R5-R20), the absolute value of reactance at 5Hz (|X5|) and the resonant frequency (Fres) were significantly higher than those in the chronic stage and clinical remission stage, and the differences were statistically significant (P< 0 . 01 ). In the group of 3 - 6 year age, the forced expiratory volume in 1 second (FEV 1 ) is strongly correlated with R 5 , R5 -R20 and |X 5 |. Furthermore, the one-second rate (FEV 1 /FVC) is strongly correlated with R 5 and R 5 -R 20 . At the group of 7 - 15 year age, FEV 1 and R 5 were moderately correlated, and FEV 1 /FVC was moderately correlated with R 5 and R 20 . Conclusions There was a good correlation between IOS and PFT in asthmatic children, especially in the group of 3 - 6 year age. IOS is better reflect peripheral small airway function and is more sensitive than PFT.

Predictive value of bedside lung ultrasound score on the outcome of liberation from mechanical ventilation in critically ill children

ZHANG Wenlan, FU Lijuan, WANG Ying, et al

Journal of Clinical Pediatrics. 2020, 38(12): 900. doi:10.3969/j.issn.1000-3606.2020.12.005

Abstract ( 390 )

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Objective To explore the predictive value of bedside lung ultrasound score on the outcome of liberation from mechanical ventilation in critically ill children. Methods The children who received mechanical ventilation in the intensive care unit (ICU) from January to December 2019 were studied. The bedside lung ultrasound score (LUS) was performed before extubation, and the rapid shallow breathing index (RSBI) and oxygenation index (P/F) were collected simultaneously. The outcome of liberation was followed up. The receiver operating characteristic curve (ROC) and area under curve (AUC) were used to evaluate the predictive value of LUS score for the outcomes. Results In 106 children ( 62 boys and 44 girls) with median age of 9 ( 3 ~ 36 ) months, 97 cases ( 91 . 5 %) were successful and 9 cases ( 8 . 5 %) failed. Compared with the successful group, the PICU stay and catheterization time were longer, the severity score was lower, the LUS and RSBI were higher and the oxygenation index (P/F) was lower (all P< 0. 05 ) in the failure group. LUS score ≥ 16 was the best cut-off value for predicting liberation failure (AUC= 0 . 991 , sensitivity 88 . 9%, specificity 97 . 9%, P< 0 . 01 ), and the predictive efficacy was significantly better than P/F value and RSBI value (P< 0 . 05 ). Conclusions? Bedside LUS can effectively assist in evaluating the readiness of liberation from mechanical ventilation, and has a high predictive value for liberation outcome.

Myocardial injury in children infected with 2019 novel coronavirus

YI Lanfen, QIU Mei, WEN Hongxia

Journal of Clinical Pediatrics. 2020, 38(12): 905. doi:10.3969/j.issn.1000-3606.2020.12.006

Abstract ( 446 )

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Objective To explore the situation of myocardial injury in children infected with 2019 novel coronavirus (COVID- 19 ). Methods The electrocardiogram and myocardial enzyme spectrum in 33 children with COVID- 19 infection diagnosed by clinical manifestations, lung CT and nucleic acid detection from January 28 , 2020 to March 7 , 2020 were retrospectively analyzed. The children were divided into the mild symptom group and the general symptom group. The differences of arrhythmia status and myocardial enzyme spectrum indexes between the two groups were compared and the correlation between the age of the children and myocardial enzyme spectrum was analyzed. Results Among the 33 children ( 20 boys and 13 girls), 8 ( 24 . 2 %) had arrhythmia and 11 ( 33 . 3 %) had abnormal myocardial enzyme spectrum, all of whom were from the general symptom group. The incidence of arrhythmia in the general symptom group was higher than that in the mild symptom group, and the difference was statistically significant (P< 0 . 05 ). Arrhythmias are often manifested as sinus tachycardia. The abnormal rates of lactate dehydrogenase (LDH), LDH isoenzyme 1 (LD 1 ) and creatine kinase isoenzyme (CK-MB) were 42 . 9 % ( 9 /21 ), 38 . 1 % ( 8 /21 ), and 47 . 6 % ( 10 /21 ) respectively in the general symptom group, which were higher than those in the mild symptom group (all P< 0 . 05 ). The levels of mean LDH, LD 1 , and median CK-MB in the general symptom group were higher than those in the mild symptom group, and the difference was statistically significant (P< 0 . 05 ). The age of children with COVID-19 infection is significantly negatively correlated with the levels of LDH, LD1, CK, and CK-MB (r=-0.563~-0.458, P< 0 . 01 ). Conclusions? Children with COVID- 19 infection have different degrees of myocardial damage. Sinus tachycardia is common manifestation. Multiple indexes of myocardial enzymes are elevated. The myocardial damage was more severe in the younger child with more severe symptoms.

Summary and thoughts on diagnosis and treatment of a typical clustered novel coronavirus infection in a three-generation family

FU Xiaoyan, GUI Mingzhu, XIE Xiaotian

Journal of Clinical Pediatrics. 2020, 38(12): 908. doi:10.3969/j.issn.1000-3606.2020.12.007

Abstract ( 446 )

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Objective To summarize and analyze the epidemiology and clinical manifestations of a typical family cluster novel coronavirus ( 2019 -nCoV) infection. Methods In order to explore the source of infection, the travel trajectory were tracked for nine members from three generations of a closely related family who got typical 2019 -nCoV cluster infection after they participated in the cruise tour. According to the principles of diagnosis and treatment of 2019 -nCoV infection, the characteristics of the confirmed cases and their correlation with age were analyzed and compared. Results The family consisted of 9 people ( 6 adults and 3 children). The whole family of 9 members ( 6 adults, 3 children) started the cruise in a highrisk epidemic area in Wuhan City, Hubei Province. After participating in cruise tourism, the oldest grandfather ( 71 -year-old) developed the disease first. Eight members ( 88. 9%) were subsequently diagnosed with 2019 -nCoV infection. All six adults and two in three children ( 66 . 7%) were diagnosed. The incubation period of all confirmed cases was significantly longer than 14 days, up to 18 - 24 days. The severity of the disease and the absolute lymphocyte count (ALC) were associated with age. After active treatment, all cases were cured. Conclusion Having a history of living or exposure in an epidemic area and the characteristics of cluster infection still important epidemiological diagnostic basis for 2019- nCoV infection.

Incomplete Kawasaki disease with parapharyngeal space inflammation as the main manifestation: a case report and literature review

MAO Yuge, SUN Yan, ZHANG Qingyou

Journal of Clinical Pediatrics. 2020, 38(12): 912. doi:10.3969/j.issn.1000-3606.2020.12.008

Abstract ( 363 )

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Objective To explore the clinical features, diagnosis and treatment of incomplete Kawasaki disease (KD) with parapharyngeal space inflammation as the main manifestation. Methods The clinical data of a KD patient with parapharyngeal space inflammation admitted in December 2019 were retrospectively analyzed, and literature review was conducted. Results A 6 -year-old boy presented with fever for 9 days. He had neck pain with enlarged lymph nodes and a few skin rashes in the trunk. C-reactive protein and erythrocyte sedimentation rate were significantly increased, and antipyretic and antibiotic treatment was not effective. The echocardiography showed a slight dilation of the left coronary artery. Neck MRI showed inflammation of the parapharyngeal space. After the treatment with high-dose gamma globulin and aspirin, the boy's body temperature returned to normal, the swelling and pain of the neck disappeared, and the inflammation index gradually decreased to normal. Reexamination of neck MRI showed that the lesion was smaller than before, and the typical membranous peeling of skin transition occurred in the fingernail bed of the child on the 14th day. Diagnosis of incomplete KD was confirmed. A total of 40 foreign literatures were retrieved and more than 200 cases were reported. One Chinese literature was retrieved and one case was reported. Conclusion? KD with inflammation of the posterior pharyngeal wall or parapharyngeal space as the first manifestation is rare and requires early clinical evaluation and treatment.

Clinical analysis of Wilms tumors treated with CCCG-WT-2016 regimen in 43 cases

TIAN Xiaomao, MA Wei, SHI Qinlin, et al

Journal of Clinical Pediatrics. 2020, 38(12): 915. doi:10.3969/j.issn.1000-3606.2020.12.009

Abstract ( 339 )

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Objective? To summarize the efficacy of WT- 2016 regimen in the treatment of Wilms tumor. Methods The clinical data of Wilms tumors treated with CCCG-WT- 2016 regimen from March 2017 to April 2019 were retrospectively analyzed. The children were followed up until April 1 , 2020 , and survival outcomes were described by Kaplan-Meier method. Results A total of 43 children ( 23 boys and 20 girls) were included, with a median age of 2 . 40 ( 0 . 83 ~ 2 . 00 ) years. The left, right and bilateral sides were affected in 23 , 19 and 1 patients respectively. There were 7 cases of stage Ⅰ, 7 cases of stage Ⅱ, 21 cases of stage Ⅲ, 6 cases of stage Ⅳ and 2 cases of stage Ⅴ. The pathological classification results were 38 cases of favorable histology (FH) type and 5 cases of unfavorable histology (uFH) type. The median follow-up of all patients was 24 . 13 ( 17 . 23~ 31 . 10 ) months. Except 1 relapsed child who needed further intensive treatment, the rest of the children had completed the treatment. There were 4 deaths ( 9 . 3 %), of which 2 were due to recurrence, 1 due to disease progression and 1 due to septic shock. There were 4 cases of recurrence ( 9 . 3 %), including 3 cases of metastasis to the lungs ( 1 case of in-situ tumor recurrence with pulmonary metastasis) and 1 case of metastasis to the mediastinum. Estimated 2 -year overall survival (OS) and progressionfree survival (PFS) was ( 93 . 02 ± 3 . 89 ) % and ( 90 . 58 ± 4 . 49 ) % respectively for all patients. The overall incidence of sepsis, respiratory infection, drug-induced liver injury and grade 4 myelosuppression were 14 . 0 %, 18 . 6 %, 7 . 0 %, and 39 . 5 % consecutively. The adverse reactions of grade 4 myelosuppression were the decreases in leukocytes by 32 . 6 %, neutrophils absolute value by 34 . 9 %,, platelets by 23 . 3 % and hemoglobin by 9 . 3 %. Conclusion WT- 2016 regimen has improved the prognosis of children with Wilms tumor.

The preliminary study on the reliability and validity of the Chinese version of the little Developmental Coordination Disorder Questionnaire

GENG Shanshan, DAI Xiaotian, WANG Tianjing, et al

Journal of Clinical Pediatrics. 2020, 38(12): 921. doi:10.3969/j.issn.1000-3606.2020.12.010

Abstract ( 487 )

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Objective The reliability and validity of the Chinese version of the little Developmental Coordination Disorder Questionnaire (little DCDQ) was evaluated to lay a foundation for the early screening and intervention of developmental coordination disorder (DCD) in China. Methods A total of 51110 preschoolers were included in the study. Cronbach’s alpha coefficient was used to evaluate the internal consistency of the questionnaire. The Guttman split-half coefficient replaced instead of test-retest reliability and was used to assess the scale’s stability. The exploratory factor analysis was used to examine the construct validity of the Little DCDQ. Exploratory factor analysis was performed to examine the structural validity of the little DCDQ, and the Age and Stage Questionnaire, Third Edition (ASQ- 3 ) was used as the standard scale to analyze the validity coefficient. Results? Chinese version little DCDQ has high internal consistency (Cronbach’s alpha coefficients of all items were > 0 . 9 ). The Guttman coefficient was 0 . 934 , indicating good split-half reliability. Three factors, “fine motor”, “motion control” and “general coordination”, were extracted by exploratory factor analysis, and contributing rate of cumulative sums of squares was 68 . 290 %. Most of the item factor loads were basically above 0 . 6 , indicating that little DCDQ had a reasonable structural validity. Little DCDQ scores were correlated with various ASQ- 3 dimensions (communication, gross motor, fine motor, problem solving and individual-society). Conclusions The Chinese version of the little DCDQ applied well in younger preschoolers. It could be used in epidemiological study of DCD and as screening tools in child health care department of primary hospitals.

Clinical evaluation of radiofrequency catheter ablation in the treatment of atrioventricular reentrant tachycardia in children

LIU Guolin, XU Xin, YI Qijian, et al

Journal of Clinical Pediatrics. 2020, 38(12): 925. doi:10.3969/j.issn.1000-3606.2020.12.011

Abstract ( 354 )

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Objective To summarize the clinical and electrophysiological characteristics of atrioventricular reentrant tachycardia in children, and to explore the efficacy and safety of radiofrequency catheter ablation in the treatment of atrioventricular reentrant tachycardia. Method The clinical data of children with atrioventricular reentrant tachycardia treated by radiofrequency catheter ablation from October 2014 to April 2020 were retrospectively analyzed. Results In 83 children ( 48 males and 35 females) with an average age of ( 9 . 48 ±2 . 88 ) years, there were 53 cases of left accessory pathway, in whom 51 cases had successful ablation and 3 cases had recurrence. There were 25 cases of right accessory pathway, in whom 25 cases had successful ablation and 6 cases had recurrence. There were 5 cases of double accessory pathway, in whom 5 cases had successful ablation and 1 case had recurrence. The immediate success rate, recurrence rate and complication rate of 83 cases were 97 . 6 %, 12 . 3 % and 6 . 0 % respectively. The average cumulative ablation time was ( 149 . 8 ± 42 . 2 ) s. The average cumulative ablation time was ( 140 . 2 ±36 . 3 ) s in the left-sided single atrioventricular accessory pathway group and ( 170. 0±47 . 3 ) s in the right-sided single atrioventricular accessory pathway group, and the difference between two groups was statistically significant (P=0.003). The recurrence rate in the right accessory pathway (24.0%) was higher than that in the left accessory pathway (5.7%), and the difference was statistically significant (χ2 = 3 . 95 , P= 0 . 047 ). Conclusion Radiofrequency catheter ablation is safe and effective in the treatment of atrioventricular reentrant tachycardia in children, but there is a certain probability of recurrence and the recurrence rate in the right accessory pathway is higher than that in the left accessory pathway.

Clinical features and prognosis of acute myeloid leukemia with TLS/ERG positive in children

HU Guanhua, LU Aidong, JIA Yueping, et al

Journal of Clinical Pediatrics. 2020, 38(12): 930. doi:10.3969/j.issn.1000-3606.2020.12.012

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Objective To explore the clinical features and prognosis of acute myeloid leukemia (AML) with positive TLS/ERG gene in children. Methods The clinical data of TLS/ERG gene positive AML in 6 children admitted from June 2008 to December 2018 were retrospectively analyzed, and the prognosis data of 62 similar cases of children reported in domestic and foreign literature were summarized and analyzed. Results Six AML children with positive TLS/ERG gene was 1 . 3 % of the AML children from 0 to 18 years admitted in the same period. They were 4 boys and 2 girls with a median age of 9 . 1 years ( 4 . 0 - 14 . 0 years). One case was complicated with central nervous system (CNS) leukemia at the onset. In addition to expressed myeloid markers CD 117 , CD 13 , CD 33 , and CD 34 , immunophenotypic expression of CD 56 was found in 4 ( 66 . 7 %) children. There was no remission after induction chemotherapy in 3 children. Bone marrow recurrence occurred in 3 of 5 children receiving allogeneic hematopoietic stem cell transplantation, and the median recurrence time was 11 . 6 months ( 3 . 0 - 22 . 0 months) after transplantation. After transplantation, one patient relapsed in the form of CNS leukemia, but the bone marrow was in sustained remission. Bone marrow had the sustained remission in 1 case. By summarizing the prognostic data of children with TLS/ERG positive AML reported in the literature, it was found that all patients in the chemotherapy group experienced recurrence, and the recurrence rate in the transplantation group was 69 . 2 %. One of the patients had sustained remission and long-term survival after a second transplant following recurrence. Conclusions The incidence of TLS/ERG positive AML is extremely low, most of its immunophenotypes are associated with CD 56 expression, and the overall prognosis is poor. Hematopoietic stem cell transplantation can improve the prognosis, which is still the recommended treatment for the first remission period, but the recurrence rate after transplantation is still high. It is needed to improve treatment methods and find new treatment options.

Clinical features and gene variation of congenital bile acid synthesis disorder type 2 in 8 children

SHE Lanhui, LI Xufang, YE Jiawei, et al

Journal of Clinical Pediatrics. 2020, 38(12): 936. doi:10.3969/j.issn.1000-3606.2020.12.013

Abstract ( 694 )

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Objective To explore the clinical features and characteristics of genetic variation in congenital bile acid synthesis disorder type 2. Method The clinical data of congenital bile acid synthesis disorder type 2 in 8 children was retrospectively analyzed. Results Eight children ( 6 boys and 2 girls) had clinic visit for jaundice between 6 and 12 weeks after birth, and the median diagnosis age was 4 . 7 months. Six children had pale yellow stools, and all had cholestatic hepatitis with normal bile acid. There was normalγ-GT in 6 cases, coagulation disorder in 3 cases and amino acid changes in 5 cases. Color Doppler ultrasonography showed poor or no filling of gallbladder. AKR 1 D 1 gene mutation was found in all 8 cases. Four cases were AKR1D 1 homozygous variants, 3 cases were compound heterozygous variants, and one case was single-heterozygous variants. In combination with urine steroid analysis, the diagnosis was confirmed. Conclusions Cholestasis can be found in children with congenital bile acid synthesis disorder type 2 in early infancy. There is no obvious abnormality in γ - GT and bile acid, and coagulation dysfunction can be found in some cases. Gene and urine steroid detection can confirm the diagnosis.

Heiner syndrome: a report of 2 cases and literature review

LI Linlin, WANG Quan, ZHAO Deyu, et al

Journal of Clinical Pediatrics. 2020, 38(12): 940. doi:10.3969/j.issn.1000-3606.2020.12.014

Abstract ( 735 )

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Objective To explore the clinical features of Heiner syndrome. Methods The clinical data of Heiner syndrome in 2 children were retrospectively analyzed. The literatures before February 2020 were collected by the search in PubMed and Wanfang database using keywords “Heiner syndrome” and “Heiner syndrome” and analyzed. Results There were two boys aged 1 month 8 days and 4 months 14 days respectively and they were fed with formula milk after birth. They had recurrent respiratory infections, diffuse lung lesions and anemia. The alveolar lavage fluid was found to be positive for hemosiderin cells. Twenty-five foreign cases and two domestic cases in literatures plus two children in this study were all fed with formula milk after birth. They were characterized by recurrent coughing, wheezing, fever, anemia and growth retardation, and the imaging findings of the lungs showed patchy infiltration. Respiratory and systemic symptoms were relieved after avoidance of cow’s milk diet. Conclusion? Heiner syndrome is rare and clinical diagnosis is difficult.

Clinical and genetic analysis of MED13L syndrome in 2 cases

ZHANG Yonggang, ZHOU Min, ZHANG Lifen, et al

Journal of Clinical Pediatrics. 2020, 38(12): 945. doi:10.3969/j.issn.1000-3606.2020.12.015

Abstract ( 1946 )

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Objective To explore the clinical and genetic characteristics of MED 13 L syndrome caused by the mutation of MED 13L gene. Method The clinical data of MED 13 L syndrome in 2 children were retrospectively analyzed. Peripheral blood samples were collected from the children and their parents for gene chip and high-throughput sequencing analysis. The chromosome microdeletions/microduplications were verified by RT-PCR, and gene variations were verified by Sanger sequencing. Results The two patients were boys, aged 2 years 6 months and 4 years 3 months, respectively. Both had special facial features, including oblique head deformity, eyelid ptosis, wide eye distance, flat bridge of nose and sinking corners of mouth. Both had language retardation, motor development retardation, low muscle tension, moderate and mild mental retardation. Case 1 also had ventricular septal defect, and case 2 had polydactyly, autism and dysplasia of corpus callosum, etc. Gene chip analysis results showed that case 1 had a 1 . 42 MB deletion in 12 q 24 . 2 region, and RT-PCR showed no abnormality in the same region of her parents. High throughput sequencing showed that the MED13L gene of in case 2 had heterozygous variation of c.580g > t (p.e 194 x), which had not been reported. Sanger verified that neither parent was abnormal. Conclusion MED 13 L syndrome is characterized by special facial features, retardation in language and, motor, and mental retardation., Sand some MED 13 L syndrome is associated with congenital heart disease, bone abnormalities and behavioral abnormalities. There was a MED 13 L gene abnormality exists and . Aa new mutation which has not been reported has beenis found which has not been reported.

End-stage renal disease caused by a de novo variation of TRPC6 gene: a case report and literature review

FAN Jiaojiao, FU Rong, HE Junjie, et al

Journal of Clinical Pediatrics. 2020, 38(12): 949. doi:10.3969/j.issn.1000-3606.2020.12.016

Abstract ( 560 )

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Objective To explore the clinical characteristics and gene variation of end-stage renal disease (ESRD) in children. Methods Clinical data and whole exon gene sequencing results of one child with ESRD were analyzed retrospectively, and relevant literature was reviewed. Results? A 9 -year-old girl diagnosed with primary nephrotic syndrome, and the effect of treatment with glucocorticoid and immunosuppressive was poor. The renal function deteriorated rapidly, and the children were given alternative therapy after the course of 2 months. Heart failure and seizures occurred during regular hemodialysis. Whole exon gene sequencing revealed a missense variation of c. 395 T>C (p.Met 132 Thr) in TRPC 6 gene. Sanger sequencing verified that both parents were wild-type, and the variation was novel. Conclusion The variation of TRPC6 gene was the reason for the progression to ESRD with extrarenal manifestations. The pathogenicity of this variation site has been reported in foreign literature but not in China.

Allan-Herndon-Dudley syndrome caused by a novel mutation of SLC16A2 gene: a case report and literature review

JIA Qianfang, ZHOU Fujun, CUI Qingyang

Journal of Clinical Pediatrics. 2020, 38(12): 953. doi:10.3969/j.issn.1000-3606.2020.12.017

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Objective To improve the understanding of clinical phenotype and genotype of Allan-Herndon-Dudley syndrome (AHDS). Methods The clinical data of one child with AHDS were retrospectively analyzed and the relevant literature was reviewed. Results A four-month-old male patient born at full term by Cesarean section was 2 . 3 kg weight at birth, and 5 . 6 kg weight and 56 cm length at visit, The muscle tension of the lower extremities was increased, and the head could be raised instantly and the head was tilted back. Whole exon sequencing revealed a hemizygous mutation of c.193 delC in SLC 16 A2 gene in the child. The mutation has not been reported and it could result in the substitution of proline with arginine in amino acid no. 65 and a code shift, and the mutation terminated at the 19 th amino acid after the code shift (p.Pro 65 ArgfsTer19), which might result in a serious impact on the protein function. Family verification showed that the variant was inherited from the mother. Conclusion It is found that the hemizygotic variation of c.193 delC in SLC 16 A2 gene is a novel cause of AHDS.

Risk factors of allergic diseases and early screening of high risk children

MA Zhuoying, HU Yan

Journal of Clinical Pediatrics. 2020, 38(12): 957. doi:10.3969/j.issn.1000-3606.2020.12.018

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