Table of Content

15 February 2019 Volume 37 Issue 2

  

Investigation of nasopharyngeal Mycoplasma pneumoniae- DNA copies and clinical characteristics in childhood Mycoplasma pneumoniae pneumonia

WAN Jiao, JIANG Lili, SUO Fengtao, et al

Journal of Clinical Pediatrics. 2019, 37(2):  81.  doi:10.3969/j.issn.1000-3606.2019.02.001

Abstract ( 681 )   PDF (1162KB) ( 234 )  

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Objective　To explore relationship between nasopharyngeal Mycoplasma pneumoniae (MP) -DNA copies and clinical characteristics in Mycoplasma pneumoniae pneumonia (MPP) children. Method　A total of 294 hospitalized MPP children were enrolled retrospectively and grouped according to the levels of nasopharyngeal MP-DNA copies tested: low copy level group (≤103/mL, n=21), moderate copy level group (104-106/mL, n=156) and high copy level group (>106/mL, n=117). Clinical manifestations, laboratory results and image features of the three groups were compared. ROC curve was used to analyze the predictive value of MP-DNA copies in refractory Mycoplasma pneumoniae pneumonia (RMPP). Results　Compared with low and moderate MP-DNA copies groups, high MP-DNA copies group had longer duration of fever, higher peak temperature and CRP level. The incidence of consolidation or atelectasis, pleural effusion, multiple extrapulmonary complications and RMPP were significantly higher in high MP-DNA copies group than those in low/moderate groups. ROC curve analysis showed AUC of the MP-DNA copies for the diagnosis of RMPP was 0.701. The best threshold value estimated was 4.83×106/mL, the diagnostic sensitivity and specificity was 80.8% and 55.4%, respectively. Conclusions　There may be positive correlation between nasopharyngeal MP-DNA copies and inflammation, pulmonary and extrapulmonary damage in MPP children. High MP-DNA copies may serve as a clinical indicator for early diagnosis of RMPP.

Analysis of bacterial pathogen detection and drug resistance in 316 children with severe pneumonia

SUO Fengtao, JIANG Lili, WAN Jiao, et al

Journal of Clinical Pediatrics. 2019, 37(2):  86.  doi:10.3969/j.issn.1000-3606.2019.02.002

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　Objective　To understand the distribution of bacterial etiology and drug resistance in children with severe pneumonia. Methods　The hospitalized children who were diagnosed with severe pneumonia in our hospital from January 2016 to September 2017 and completed the bacterial pathogen examination of nasopharyngeal aspirate (NPA) and bronchoalveolar lavage fluid (BALF) were enrolled, and clinical data, NPA, BALF bacterial pathogen detection and bacterial drug susceptibility results were retrospectively analyzed. Results　A total of 316 children with severe pneumonia were enrolled, including 169 infants (53.5%), 204 babies (64.6%) who had a combination of underlying disease and 304 babies (96.2%) who had complications. The first bacteria detected from NPA and BALF were Streptococcus pneumoniae. The resistance rate of Streptococcus pneumoniae to erythromycin was over 98%, and the resistance rate to tetracycline, compound sulfamethoxazole and clindamycin was over 70%. The resistance rate of meropenem is as high as 55%, the resistance rate to penicillin is less than 20%, the resistance rate to amoxicillin and cefotaxime is less than 30%, and in contrast, it is sensitive to vancomycin, rifampicin and linezolid. The second bacteria detected by NPA and BALF is Haemophilus influenzae, and its resistance rate to ampicillin is over 85%. It is resistant to compound sulfamethoxazole, cefaclor, cefuroxime and amoxicillin clavulanate potassium. The drug resistant rate is more than 55%, but the sensitivity rate to cefotaxime is as high as 80%. The resistance rate of Klebsiella pneumoniae to ampicillin was 100%, the resistance rate to cefotaxime and ceftriaxone was over 55%, but the sensitivity to carbapenem antibiotics (meropenem, imipenem) is up to 80%. ESBLs-producing Klebsiella pneumoniae in BALF and NPA was 13 and 6 strains, respectively. The detection rate of Klebsiella pneumoniae from BALF was significantly higher than that from NPA (76.5% vs 37.5%, P <0.05). Conclusions　The most common bacterial pathogen detected in children with severe pneumonia is Streptococcus pneumoniae, which still maintains high sensitivity to penicillin and amoxicillin. Broad-spectrum antibiotic treatment may lead to more frequently detected ESBLs-producing Klebsiella pneumoniae. Appropriate antibiotic use has important role in preventing the emergence of resistant strains.

Lung ultrasound for diagnosing neonatal pneumothorax ： a case report and literature review

QIANG Guangfeng, ZHAO Jing, REN Xueyun

Journal of Clinical Pediatrics. 2019, 37(2):  89.  doi:10.3969/j.issn.1000-3606.2019.02.003

Abstract ( 715 )   PDF (1733KB) ( 275 )  

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　Objective　To study the clinical value of lung ultrasound (LUS) in the diagnosis of neonatal pneumothorax. Methods　The clinical data of a case of neonatal pneumothorax diagnosed by LUS in a newborn with sudden dyspnea and decreased oxygen saturation were retrospectively analyzed. Relevant literatures were reviewed. Results　A newborn was admitted to NICU with “groaning and anhelation for 30 minutes” and given nasal continuous positive airway pressure. LUS was performed 20 minutes after admission, suggesting pneumothorax. We discontinued nasal continuous positive airway pressure to a high-frequency oscillating ventilator. About 2 hours after admission, the infant's breathing difficulties increased, and the oxygen saturation decreased to 60%. Due to the delay of chest X ray, we examined the infant by LUS immediately, and found that pneumothorax was aggravated. Then LUS-guided emergency thoracic puncture was performed. The infant's condition improved significantly. Conclusions　Using LUS to diagnose neonatal pneumothorax is highly accurate, convenient, fast, and free of ionizing radiation. LUS should be an important imaging alternative for the diagnosis of neonatal pneumothorax.

A report of reversible infant respiratory chain deficiency due to mitochondrial MT-TE gene mutation in a child with literature review

LUO Xufeng, LIU Nan, XIE Huiyuan, et al

Journal of Clinical Pediatrics. 2019, 37(2):  93.  doi:10.3969/j.issn.1000-3606.2019.02.004

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Objective　To investigate the characteristics of clinical manifestation and gene mutation of reversible respiratory chain deficiency in infants with mitochondrial MT-TE gene mutation. Methods　Clinical data of a child diagnosed as reversible infantile respiratory chain deficiency was retrospectively analyzed and related literature was reviewed. Results A male infant, 2 months and 23 days, presented with low weight, short of breath, both lungs can hear snoring and wheezing, hypotonia, and level IV muscle strength. One of his sisters died of severe pneumonia shortly after birth. At the time of admission, blood test showed creatine kinase isoenzyme 123 U/L, creatine kinase 890 U/L, blood lactate 8.9 mmol/L, and pathogen examination were negative. There was no abnormality in the head MRI. After admission, the child continued to have high lactatemia, abnormal muscle enzymes, and difficult breath, and died after giving up treatment. Genetic testing revealed a 14674T>C mutation in the mitochondrial MT-TE gene, which was inherited from his mother. Literature reports found that early clinical manifestations of patients with mitochondrial MT-TE 14674T>C mutations are similar to progressive mitochondrial diseases which is characterized by respiratory muscle weakness, feeding difficulties, delayed motor development milestones, increased muscle enzymes and lactic acid. Replenish energy, maintain internal stability and other treatments could gradually improve clinical symptom around 1 year old. Conclusions　This case is a reversible infantile respiratory chain deficiency caused by a mitochondrial MT-TE mutation. Early manifestations of this disease are similar to those of progressive mitochondrial disease, and the prognosis is good. Early genetic testing can confirm the prognosis and enhance the confidence of treatment.

Influence of the screen exposure on language development in children under 3 years old

XU Mingyu, REN Fang, SHEN Lixiao, et al

Journal of Clinical Pediatrics. 2019, 37(2):  97.  doi:10.3969/j.issn.1000-3606.2019.02.005

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　Objective To investigate the screen media use time in children under 3 years old in Shanghai， and to examin the association and the dose-effect relationship between screen exposure and language development. Methods　We performed a cross-sectional population-based study, children and their caregivers from 8500 families in Shanghai were recruited. Every family was asked to complete a specially-designed questionnaires covering demographic information, family socioeconomic status, and children’s language development milestones. Results　The prevalence of language developmental delay in one year and two years old children is 36.6% and 15.2% respectively. And it is higher in boys than girls, showing consistency with a previous study. Duration of screen media exposure was extending with age in children under three years old. Stratified analysis by the gender showed a negative correlation between the duration of screen exposure and expressive language development in both genders (P<0.05). Stratified analysis by age showed that when the children were under 18 months, the more hours spending with the screen media, the poorer ability of expressive language (P<0.05). Whereas, for the children older than 18 months, the effect only occurred when the duration of screen media exposure is more than one to two hours per day. Conclusions　Our findings showed the deleterious impact of screen media in infant’s expressive language development. Screen media shouldn’t be used by children under 18 months. Guidance and alternatives to screen media use should be available to families in pediatric practices.

Establishment and evaluation of computer convolutional neural network models for premature ventricular contractions in children

LIU Li, HUANG Yujuan, WANG Jianyi, et al

Journal of Clinical Pediatrics. 2019, 37(2):  102.  doi:10.3969/j.issn.1000-3606.2019.02.006

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Objectives　To establish three convolutional neural network models for automatic diagnosis of premature ventricular contractions（PVC） in children by applying the method of computer deep learning and to evaluate their diagnostic value. Methods　ECGs of 1200 children with premature ventricular contractions collected in Shanghai Children's Hospital were used as PVC group and ECGs of 1200 normal children in the same age and sex were enrolled as normal control group. The male to female ratio of the two groups was 3:2, with an average age of 6.5 ± 0.5 years. In two groups, 800 samples were randomly extracted after eliminating few ECGs that are not suitable for model training, and three convolutional neural network models for automatic diagnosis of PVC in children were trained and established by applying the method of computer deep learning. An other 200 samples were extracted from each group to test and validate the performance of each model. The diagnosis of electrocardiogram expert group of Department of Cardiology in Shanghai Children's Hospital is regarded as "gold standard" to evaluate the reliability and validity of the models using medical statistics. Results　Applying the method of computer deep learning, 2D CNN model and fine-tuned Inception-V3 model are trained with ECG waveform image, 1D CNN model are trained with ECG time-series data. The sensitivity of the 2D CNN model is 65%, the specificity 71.5%, the missed diagnosis rate 35%, the misdiagnosis rate 28.5%, the positive predictive value 69.5%, the negative predictive value 67.1%, the accuracy rate 68.2%, and the Kappa value 0.365. The sensitivity of the V3 model is 82%, specificity 85%, missed diagnosis rate 18%, misdiagnosis rate 15%, positive predictive value 84.5%, negative predictive value 82.5%, accuracy 83.5%, Kappa 0.670; The sensitivity of 1D CNN model is 87.5%, specificity 89.5%, missed diagnosis rate 12.5%, misdiagnosis rate 10.5%, positive predictive value 89.3%, negative predictive value 87.7%, accuracy rate 88.5%, Kappa 0.770. Conclusions　V3 model and 1D CNN model perform well, and the reliability and validity of 1D CNN model are especially good, Kappa value 0.77 indicates highly consistent with the diagnosis of electrocardiogram expert group of Department of Cardiology in Shanghai Children's Hospital.

Significance of PTX3 and NT-proBNP in coronary artery lesion in children with Kawasaki disease 　

JIANG Fengzhi, ZHAO Qing, ZENG Junfeng, et al

Journal of Clinical Pediatrics. 2019, 37(2):  107.  doi:10.3969/j.issn.1000-3606.2019.02.007

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Objective　To explore the significance of PTX3 and NT-proBNP as biomarkers in evaluating the coronary artery lesion of Kawasaki disease (KD). Methods　Concentrations of serum PTX3, NT-proBNP and inflammatory cytokines (IL-1β, IL-6, TNF-α) in 64 children with KD on acute and convalescent phases were detected, and color Doppler ultrasound examination was performed on the acute phase. At the same time, 30 children with only respiratory tract infection and 30 healthy children of same age were selected as control groups. Comparison and correlation evaluation were carried out for these data. Receiver operating characteristic curve was used to analyze the diagnostic efficiency of PTX3 and NT-proBNP on the acute phase for KD. Results　Levels of serum PTX3, NT-proBNP and inflammatory cytokines (IL-1β, IL-6, TNF-α) on the acute phase in children with KD were higher than that on convalescent phase, and no statistical difference in two control groups was observed. PTX3 on convalescent phase was still higher than that in control groups, while there was no significant difference for other factors. The difference of serum PTX3 between CAL and NCAL group of children with KD on the acute phase was statistically significant, meanwhile no significant difference for NT-proBNP on the two phases was found. Serum levels of PTX3 and NT-proBNP of all samples were positively correlated with that of IL-1β, IL-6 and TNF-α (γ=0.666, 0.697,0.645 and 0.674, 0.675，0.694, P=0.000). Area under the receiver operating curve of PTX3 and NT-proBNP were 0.909 (95% CI: 0.862-0.957, P=0.000）and 0.918（95% CI: 0.856-0.981, P=0.000）, respectively. Conclusions PTX3 and NT-proBNP reflect qualitative feature and location of coronary vasculitis in KD separately. Joint combination of the both is helpful to KD early diagnosis. PTX3 is related to the status of the the disease activity as well, thus can be used for monitoring the progress of KD.

Childhood Erdheim-Chester disease: a report of two cases and literature review

WU Yuefang, LI Zhuo, XIAO Juan, et al

Journal of Clinical Pediatrics. 2019, 37(2):  111.  doi:10.3969/j.issn.1000-3606.2019.02.008

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　Objective　To explore clinical characteristics of Erdheim-Chester disease (ECD) in children. Method The clinical manifestations, imaging findings and pathological finding of two childhood ECD patients in our hospital were retrospectively summarized. Results　The most common manifestations of ECD in children included polydipsia, polyuria, lower limb pain, and hepatomegaly, etc., which were similar to Langerhans cell histiocytosis in manifestations, but the pathological features were similar to yellow lipid granuloma, immunohistochemical features are CD68 (+), CD1a (?), and S-100 (?). Compared with that in adults, skeletal systems were also most likely to be involved in children, and nervous system seemed to be more likely to be involved in children, while heart and skin were rarely involved. Two children were treated with interferon with improved clinical situations. Conclusions　ECD is a rare non-Langerhans cell histiocytosis. Early identification and diagnosis can improve the prognosis of the disease.

Gene analysis of a pedigree with hemophilia B

JIAO Beilei,WEI Hongying,LU Meirong

Journal of Clinical Pediatrics. 2019, 37(2):  115.  doi:10.3969/j.issn.1000-3606.2019.02.009

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Objective To explore the mutations and molecular pathogenesis of coagulation factor Ⅸ (F Ⅸ) gene in a pedigree certificate with hemophilia B. Methods　The proband, a 2 years and 4 months old male, was diagnosed as hemophilia B. The clinical feature include repeated skin petechia and hemorrhinia, and the laboratory examination showed APTT 118.3 s, PT 15s, PLT 287 ×109 /L, FⅨ 2.3%. Peripheral blood samples were collected from the proband with hemophilia B and genealogy. Eight coding exons of F Ⅸ gene in the family members were amplified by PCR, and then sequenced by Sanger sequencing. The sequencing results were compared to F Ⅸ gene mutation database. Results　A c.129delG p.Pro44Glnfs*60 in exon 2 of F Ⅸ gene were detected in the proband, five females found as carrier in the pedigrees diagnosis indicated that the proband aunt's fetus did not carry the pathogenic gene. Conclusions　C.129delG p.Pro44Glnfs*60 in F Ⅸ gene is a pathogenic mutation in this pedigree with hemophilia B. Gene diagnosis is helpful to recurrent risk evaluation and prenatal diagnosis.

Clinical characteristics and resistance analysis of bloodstream infections due to Pseudomonas aeruginosa in 54 children

GAO Ya, LI Jiao, DU Xinke, et al

Journal of Clinical Pediatrics. 2019, 37(2):  118.  doi:10.3969/j.issn.1000-3606.2019.02.010

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Objective　To investigate the clinical characteristics and resistance of Pseudomonas aeruginosa (PA) bloodstream infections in children. Methods　The clinical data from 54 hospitalized children of PA bloodstream infections were retrospectively analyzed. Results　Of them, 2 cases were septicemia, 51 cases were sepsis, 1 case was bacteremia. 34 cases had underlying diseases, and 20 cases occurred in previously healthy children. All the children had a fever. The other main symptoms were poor spirit and reaction, diarrhea and skin damage, and the proportion of the above symptoms was significantly higher in previously healthy group than in underlying disease group, the difference was statistically significant (P<0.05). Of the 54 patients, 44 (81.48%) had other system involvement, the most common is vulnerable respiratory system, followed by electrolyte imbalance, hematological system and multiple organ failure. In the previously healthy group, the incidence of respiratory, hematological, nervous, circulatory, digestive system and skin damage, multiple organ failure and electrolyte imbalance were significantly higher than that of the underlying disease group, the difference was statistically significant (P<0.05). The albumin in the previously healthy group decreased more, and the median level of CRP and PCT was higher, the difference was statistically significant (P<0.05). Improper antibiotic treatments were found in 23 cases, the highest resistance was Aztreonam, followed by Ceftazidime, and Piperacillin. Poor prognosis was observed in 23 cases. Conclusions　PA bloodstream infections in children are prone to multiple organ damage, and with high rate of improper use of antibiotics and poor prognosis.

Primary Cryptococcus neoformans infection in spleen: a case report

GUO Yimin, MAO Xingxing, MAO Qing, et al

Journal of Clinical Pediatrics. 2019, 37(2):  123.  doi:10.3969/j.issn.1000-3606.2019.02.011

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　Objective To explore clinical characteristics of primary Cryptococcus neoformans infection in spleen. Methods The clinical data of a child with primary Cryptococcus splenococcus infection was retrospectively analyzed and the related literature was reviewed. Results　A female, 2 years and 3 months old, was admitted to hospital with persistent fever, anemia and increased eosinophils. Imaging findings revealed splenomegaly, and no history of recurrent infection was found. Physical examination showed no abnormalities in the heart, abdomen and nervous system. Abdominal CT revealed splenomegaly and multiple abdominal masses. Histopathology of spleen biopsy confirmed Cryptococcus neoformans infection in the spleen. Conclusions　Cryptococcus neoformans infection in spleen could lead to persistent fever, anemia, increased eosinophils, multiple abdominal mass and splenomegaly.

Report of an adolescent girl with Hashimoto encephalopathy starting with status epilepticus and high fever with review of literature

JIANG Lihong, SUN Yongmei, MU Qing, et al

Journal of Clinical Pediatrics. 2019, 37(2):  127.  doi:10.3969/j.issn.1000-3606.2019.02.012

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　Objective　To analyze the clinical data of one adolescent girl who suffered from Hashimoto encephalopathy with the onset of status epilepticus and high fever. Methods　Clinical data of the patient was retrospectively analyzed and related literatures were reviewed. Results　An adolescent girl was diagnosed with Hashimoto encephalopathy with the onset of status epilepticus and high fever. Under the continuous intravenous injection of sodium valproate for 57 hours and corticosteroids and intravenous immunoglobulin treatment, convulsions was stopped. For twice lumbar punctures, the cerebrospinal fluid analysis showed no obvious abnormalities. Antibodies against autoimmune encephalitis in the blood and cerebrospinal fluid were all negative. No abnormality was found in the head CT and MRI. After 67 hours of admission to the hospital, the patient was conscious. She became afebrile after 72 hours. Electroencephalogram for 24 hours indicated diffuse slow wave and no typical epileptiform discharge. There was no abnormal analysis of blood amino acids, acyl carnitine and urinary organic acids. Blood lactate and blood ammonia were in normal range. The detection of thyroid function indicated that the titers of antithyroglobulin antibody and thyroid peroxidase antibody increased significantly, free T3 was lower than normal and sTSH was higher than normal. Therefore, the diagnosis was Hashimoto encephalopathy. Levothyroxine sodium tablets and prednisone were given to the patient. We monitored the thyroid function and adjusted the dosage of medicine. After discharge from the hospital for 3months, the thyroid function was normal and the electroencephalogram was normal under the treatment of oral levothyroxine sodium tablets 50μg/d and prednisone 5 mg/d. The patient was still in the follow-up. Conclusions　Hashimoto encephalopathy is a rare disease, easy to be misdiagnosed and missed. Therefore, for adolescents with status epilepticus and fever, the thyroid function and thyroid associated antibodies, especially thyroid peroxidase antibody, should be routinely screened for early diagnosis and early treatment to improve the prognosis. Further research is still needed because the pathogenesis of the disease is not yet clear.

LMNA gene de novo mutation related limb-girdle muscular dystrophy 1B: a case report and literature review

MEI Daoqi ,WANG Yuan,CHEN Guohong, et al

Journal of Clinical Pediatrics. 2019, 37(2):  130.  doi:10.3969/j.issn.1000-3606.2019.02.013

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Objectives To explore the clinical phenotypes, diagnosis and genetic characteristics of LMNA related limbgirdle muscular dystrophy 1B (LGMD IB). Methods　The clinical data of one case of limb-girdle muscular dystrophy 1B with LMNA gene mutation were retrospectively analyzed. The related literatures were reviewed. Results　The proband, a 5 yearold female, presented with weakness of lower extremities, and mild upper limb weakness. Mutation screening of LMNA gene in the proband and their parents, three sisters identified a de novo heterozygous missense mutation of c.1580G>C (p.Arg527Pro) in LMNA. She was confirmed as LMNA gene mutation related limb-girdle muscular dystrophy 1B. The literature search revealed limb-girdle muscular dystrophy 1B and LMNA gene-related children is a kind of myopathy in the proximal limb muscles (pelvic and shoulder girdle muscle) muscle weakness as the main manifestation of myopathy, and may accompanied with heart block and dilated cardiomyopathy. The LMNA gene is a causative gene of LGMD IB, and its mutations cause muscle cell dysfunction involving all structures of muscle fibers. Conclusions　LMNA gene screening is conducive to early diagnosis of limb-girdle muscular dystrophy 1B.

CRYAB gene related fatal infantile fattening myofibrillar myopathy: a report of two cases with literature review

WU Yuhui, HAN Chunxi, HE Yanxia, et al

Journal of Clinical Pediatrics. 2019, 37(2):  134.  doi:10.3969/j.issn.1000-3606.2019.02.014

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Objectives　To explore the clinical characteristics and prognosis of CRYAB gene related fatal infantile fattening myofibrillar myopathy. Methods　The clinical data of two cases admitted to PICU diagnosed as fatal infantile fattening myofibrillar myopathy by genetic test was retrospectively analyzed, and related literature were reviewed. Results　Two male patients presented with rigid muscles and respiratory insufficiency with onset aged at 3 and 8 months old, respectively. Cardiac ultrasound showed normal and serum creatine kinase were elevated in 2 cases. MRI showed thickening of abdominal muscle and thigh muscle, and trunk muscle stiffness was seen. Electromyogram shows muscle tetanus potential. Muscle biopsy of one case revealed myogenic damage. Gene testing in both cases identify homozygous nucleotide variation of c.3G>A in CRYAB gene. DMPK genes test were normal. Blood and urine screening showed no significant abnormalities. Conclusions　CRYAB gene related fatal infantile fattening myofibrillar myopathy is rare and mainly manifested as muscular rigidity leading to dyspnea, which is different from other neuromuscular diseases. Patients with restrictive dyspnea due to muscular rigidity of the trunk should be vigilant and undergo genetic examination and muscle biopsy.

Clinical and genetic analysis for congenital disturbance of glycosylation with MPI gene mutation

ZENG Jingqing, JIANG Lirong, WANG Jian, et al

Journal of Clinical Pediatrics. 2019, 37(2):  138.  doi:10.3969/j.issn.1000-3606.2019.02.015

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Objective　To investigate the clinical manifestations and gene mutation characteristics for congenital disorders of glycosylation caused by MPI gene mutation. Method　One case with liver enlargement was diagnosed as congenital disturbance of glycosylation (CDG). We analyzed the clinical data and laboratory examination result, and the gene mutations identified by Sanger sequencing. Result　The patient was a girl，the main clinical features are hepatomegaly, recurrent respiratory infection, chronic diarrhea that started from 1 year old. Physical examination showed that the liver is 4 cm and the spleen is 1 cm under the ribs. The abdominal MRI results were hepatomegaly with diffuse lesions. Genetic analysis showed that the patient carried compound heterozygous mutations of c.391G>A(p.Asp131Asn) and c.455G>A(p.Arg152G) in MPI gene (NM_002435.2), which were inherited from father and mother, respectively. Conclusion　CDG is a metabolic disease caused by a group of autosomal recessive glycoprotein synthesis defects. MPI gene defect mainly manifested as hepatomegaly, vomiting, diarrhea, lymphangiectasis, protein losing enteropathy, hypoglycemia, the suspected cases can get a definite diagnosis by gene detection.

Dent disease combined with renal cystic disease: report of one case and review of the literature

ZHANG Hongwen, SU Baige, XU Ke, et al

Journal of Clinical Pediatrics. 2019, 37(2):  141.  doi:10.3969/j.issn.1000-3606.2019.02.016

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Objective　To explore the possible mechanism in childhood Dent disease combined with renal cystic disease. Methods　Clinical data were collected and analyzed from 1 childhood Dent disease cases combined with renal cystic disease. Results　The case presented with nephrotic level low-molecular weight proteinuria, hypercalciuria, progressive renal failure, multiple cysts in both kidney and hypopotassemia. Renal biopsy showed focal segmental glomerulosclerosis combined with tubulointerstitial damage. Gene mutation analysis showed a hemizygous mutation (c.1975delC, p.R659Gfs*7) in CLCN5 gene, and no positive result on nephronophthisis related genes was found. Conclusions　Dent disease combined with renal cystic disease is a rare phenomenon, with reasons unknown.

Recent advances of clinical managements of primary ciliary dyskinesia

WEI Jianhua

Journal of Clinical Pediatrics. 2019, 37(2):  144.  doi:10.3969/j.issn.1000-3606.2019.02.017

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Primary ciliary dyskinesia syndrome (PCD) is a rare genetic disease with high heterogeneity, the diagnostic strategy of PCD is becoming more and more complete. However, the lack of prompt clinical managements for many patients resulted in severe consequences. This article will review on the recent advances of clinical managements of upper and lower respiratory tract and other systems to explore unified and prompt management strategy. In addition, azithromycin and gene editing are promising treatment approaches.

Research progress on cytokines in atopic dermatitis

KONG Yuwei

Journal of Clinical Pediatrics. 2019, 37(2):  148.  doi:10.3969/j.issn.1000-3606.2019.02.018

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　Atopic Dermatitis (AD) is a highly recurrent and itchy chronic inflammatory disease with a complicated pathogenesis involving genetic susceptibility, environmental factors, immune function deregulations and skin barrier dysfunction. Immunology abnormalities play a significant role in the pathogenesis of AD. T lymphocytes exert immunomodulatory effects by secreting characteristic cytokines. Different T helper cell (Th) subpopulations, such as Th2, Th9, Th17 and Th22 cells, express high levels of IL-31, IL-9, IL-10, IL-17, IL- 22 and so on. The article specifically reviews on the significant effects of different T lymphocyte subsets and the cytokines produced on the pathogenesis of AD.

Progress on treatment of beta-thalassemia major

OU Hanbing

Journal of Clinical Pediatrics. 2019, 37(2):  153.  doi:10.3969/j.issn.1000-3606.2019.02.019

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Beta-thalassemia is a group of hereditary hemolytic anemia caused by beta-globin gene mutation, resulted in reduced or lacked synthesis of beta-globin chains. Clinical manifestations ranged from severe anemia to normal. Severe patients will die of anemia, septicemia or generalized organ failure if timely treatment is not available. Previous conservative treatments included life-long red blood cell transfusion, iron chelation, and splenectomy, etc. Due to iron overload, immunocompromise and low efficacy of conservative treatments, novel therapeutic approaches including pharmaceutical induction of gamma-globin, allogeneic hematopoietic stem cell transplantation and gene therapy have been developed. This review discussed current and future alternative therapies for beta-thalassemia major.

Progress in the application of breast milk fortification in very low birth weight infants

XIANG Yi, TANG Qingya

Journal of Clinical Pediatrics. 2019, 37(2):  158.  doi:10.3969/j.issn.1000-3606.2019.02.020

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