Table of Content

15 April 2019 Volume 37 Issue 4

  

The changes and clinical significance of platelet surface expression of PAC-1 in Kawasaki disease in children

ZHENG Chen, LI Xuan, DING Yueyue, et al

Journal of Clinical Pediatrics. 2019, 37(4):  241.  doi:10.3969/j.issn.1000-3606.2019.04.001

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Objective　To investigate the changes of platelet surface expression of glycoprotein Ⅱb/Ⅲa fibrinogen receptor (PAC-1) in Kawasaki disease (KD) patients at different phases, and to analyze the correlation between PAC-1 and coronary artery lesion in KD. Method　A total of 27 hospitalized children with KD from March to September 2016 were selected as study subjects, and fever control group (36 cases) and healthy control group (40 cases) were set at the same time. KD children were further divided into coronary artery injury (CAL) group and non-coronary artery injury (NCAL) group according to echocardiography. Peripheral venous blood was collected in each group and the expression of PAC-1 was detected by flow cytometry. Results　The platelet expression levels of PAC-1 in children with KD in the acute, subacute, and convalescent stages were significantly different from those in the fever and healthy control groups (P<0.001), with the lowest expression levels in the healthy control group. The expression of PAC-1 in KD children was the highest in subacute stage, followed by acute stage and convalescence stage. The expression of PAC-1 in CAL group in subacute phase was significantly higher than that of NCAL group, and the difference was statistically significant (P<0.05). Conclusion　The expression levels of platelet PAC-1 were increased throughout the course of the disease in children with KD, indicating the presence of platelet activation. The expression levels of PAC-1 were significantly increased in the subacute phase of KD children, and were significantly higher in the CAL group than in the NCAL subgroup, suggesting that platelet activation was associated with KD coronary artery injury.

Clinical characteristics of Kawasaki disease shock syndrome

ZHAO Xiaopei, XIAO Tingting, ZHANG Yongwei

Journal of Clinical Pediatrics. 2019, 37(4):  245.  doi:10.3969/j.issn.1000-3606.2019.04.002

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Objective　To explore the clinical characteristics of Kawasaki disease shock syndrome (KDSS). Method The clinical data of hospitalized children diagnosed with KDSS between June 2014 and October 2017 were retrospectively analyzed. The children diagnosed with Kawasaki disease (KD) at the same time with stable hemodynamics were selected as controls. The clinical characteristics of the two groups of children were analyzed and compared. Results　Compared with 119 KD children, 21 KDSS children had higher percentage of cervical lymph node enlargement and incomplete KD, higher levels of neutrophils, C-reactive protein, D-dimer and N-terminal brain natriuretic peptide precursor, lower platelet count and lower serum albumin level; children with KDSS were more likely to have no response to the first dose of gamma globulin, to suffer from coronary artery damage and to have longer total fever course and hospitalization time than children with KD. The differences were statistically significant (P<0.05). Conclusion　Children with KDSS have more intense inflammatory reaction, more obvious hypercoagulability, and are prone to gamma globulin resistance

Clinical characteristics and prognostic factors of anti-Nmethyl- D-aspartate receptor encephalitis in children

YANG Sai, ZHANG Xiao, FENG Mei, et al

Journal of Clinical Pediatrics. 2019, 37(4):  250.  doi:10.3969/j.issn.1000-3606.2019.04.003

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Objective　To explore the clinical features and prognostic factors of anti-N-methyl-D-aspartate (anti-NMDA) receptor encephalitis in children. Method　The clinical data of anti-NMDA receptor encephalitis in 51 children from January 2015 to December 2017 were collected and analyzed, and the short-term prognostic results at 6 months after discharge were evaluated. Results　In 51 children (21 males and 30 females) with an average age of (7.36±3.24) years, the most common clinical symptoms were motor disorder (45 cases), personality change (43 cases), epilepsy (42 cases) and cognitive impairment (16 cases). Two cases were transferred to other hospital by themselves. In 49 children treated, 45 received intravenous immunoglobulin and 41 received methylprednisolone at the same time. Eight children received plasma exchange. The second-line treatment with rituximab were given to eight patients, among whom 6 patients had previously received ineffective intravenous immunoglobulin and methylprednisolone therapy and 2 patients had previously received ineffective plasma exchange therapy. Seven children were lost to follow-up. Forty-two children completed the assessment at 6-month follow-up after discharge, and 23 children had good short-term prognosis. Multiple logistic regression analysis showed that cognitive impairment (OR=23.97, 95%CI：1.12~513.30, P=0.042) and abnormal brain MRI (OR=14.29, 95%CI: 1.36~150.10, P=0.027) were independent risk factors for poor short-term prognosis. Conclusion　Anti-NMDA receptor encephalitis is commonly manifested as motor disorder, personality change, epilepsy and cognitive impairment. Abnormal MRI and cognitive impairment are important predictors of short-term poor prognosis.

RAS-associated autoimmune leukoproliferative disease evolves into severe juvenile myelomonocytic leukemia: a case report and literature review

WU Zhengzhou, HUANG Ke, FANG Jianpei, et al

Journal of Clinical Pediatrics. 2019, 37(4):  256.  doi:10.3969/j.issn.1000-3606.2019.04.004

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Objective　To explore the clinical process and genetic variation characteristics of RAS-associated autoimmune leukoproliferative disease (RALD) evolving into severe juvenile myelomonocytic leukemia (JMML). Methods　The clinical data of RALD evolving into JMML and KRAS gene mutation in a child were retrospectively analyzed, and the related literature was reviewed. Results　A male child presented with pale complexion and hepatosplenomegaly at 2 months of age, with a peripheral leukocyte count at 17.56×109/L, a monocyte ratio of 5.8% and a heterozygous deletion in α4.2 gene. Subsequently, the patient suffered repeated fever, aggravated anemia and continuing hepatosplenomegaly. Laboratory data showed fluctuated leukocyte count at (16.4~58)×109/L, increased monocyte ratio at (21.4%~36%), decreased platelet count at (50~110)×109/L and positive result of Coomb's test. There was no obvious abnormality in bone marrow smear at 4 months of age. After treatment, the condition improved and the drug was stopped. At the age of 2 years, the child presented with persistent high fever again. Laboratory data showed that HbF was at 28.9%. The chest CT showed that the patient had suspicious pulmonary fungal infection, pericardial effusion and bilateral axillary multiple enlarged lymph nodes. Bone marrow morphology suggested an infectious myelogram. Flow cytometry showed about 1.2% myeloid primordial cells and 7.6% monocytes. Bone marrow fluorescence in situ hybridization (FISH) reported no leukemia-associated fusion gene. The heterozygous missense variation, c.37G>T (p.Gly13Cys), was detected in exon 2 of KRAS gene. At age of 2 years and 4 months, the child developed fever again, with 51% of peripheral blood immature cells. He was finally diagnosed as JMML. Conclusions　RALD and JMML are continuous processes of different clinical phenotypes and disease progressions resulting from a range of genetic and epigenetic events. It is necessary to closely monitor the changes in condition of RALD patients for early diagnosis and treatment.

Diagnosis and treatment of hyper-IgD syndrome developed after recurrent arthritis in a case

ZHANG Tao, SUN Li, LIU Haimei, et al

Journal of Clinical Pediatrics. 2019, 37(4):  260.  doi:10.3969/j.issn.1000-3606.2019.04.005

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Objective　To explore the clinical characteristics and treatment of hyper-IgD syndrome (HIDS) developed after arthritis. Method　The clinical data of HIDS and the results of high-throughput sequencing of all exons in a child were retrospectively analyzed. Results　Starting at the age of 5 months, a boy aged 3 years and 2 months suffered from repeated multiple joint swelling and pain, and progressive aggravation in limited movement. One year after the onset, the boy began to have periodic fever, about once every ten days with a temperature peaked at 39-40℃. Leukocyte, C-reactive protein and erythrocyte sedimentation rate were increased during fever, accompanied by anemia, oral ulcer, lymph node enlargement and hepatosplenomegaly. The boy had recurrent eczema, abdominal distension and upper respiratory tract infections after birth and had not any vaccinations. Previous anti-tuberculosis and anti-infection treatments were ineffective. Comprehensive examination excluded infectious and rheumatic diseases and neoplastic hematologic disorders. MVK gene analysis showed two heterozygous missense mutations, exon 10, C.925G>C, P.G309R (rare mutations) and exon 10, c.928G>A, P.V310M. Each parent carried one of the variants, and the boy was diagnosed with HIDS. At present, the child was receiving maintenance treatment of hormone, enacetopril and methotrexate. The fever interval of the child was prolonged with improved joint symptoms, and the follow-up was continued. Conclusion　When a child had periodic fever with infantile onset, accompanied by recurrent joint swelling and pain, lymph node enlargement, the clinicians should be alerted to the possibility of HIDS after excluding infection, rheumatism and blood system diseases. Genetic diagnosis should be performed as soon as possible.

Cutis laxa caused by PYCR1 gene mutation: a case report

LU Jing, XU Yufei, HAN Cong, et al

Journal of Clinical Pediatrics. 2019, 37(4):  265.  doi:10.3969/j.issn.1000-3606.2019.04.006

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Objective　To analyze the clinical and genetic characteristics of autosomal recessive cutis laxa caused by a rare mutation of PYCR1 gene. Method　The clinical data and genetic analysis results of cutis laxa in a child were analyzed, and the related literature was reviewed. Results　A 4-year-old girl with short stature, emaciation, loose and dislocated joints, irregular teeth and special facial features was clinically diagnosed of cutis laxa. High-throughput sequencing revealed that the PYCR1 gene had a missense mutation c.743G>A, p.Gly248Glu (homozygous). Sanger sequencing confirmed that both her father and mother carried the heterozygous mutation. Conclusion　The patient was diagnosed with cutis laxa caused by PYCR1 gene mutation.

Primary ciliary dyskinesia caused by novel compound heterozygous mutation in HYDIN gene: a case report

YANG Qin, MA Hongling, ZHENG Yuejie, et al

Journal of Clinical Pediatrics. 2019, 37(4):  268.  doi:10.3969/j.issn.1000-3606.2019.04.007

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Objective　To summarize the clinical characteristics of primary ciliary dyskinesia (PCD) caused by a novel compound heterozygous mutation in HYDIN gene, and to explore the relationship between mutant genotype and phenotype. Method The clinical data of PCD caused by compound heterozygous mutation in HYDIN gene in a child were retrospectively analyzed. The literature at home and abroad was retrieved by using the key words "primary ciliary dyskinesia HYDIN gene" and "primary ciliary dyskinesia HYDIN". Results　A 3-year- and 1-month-old girl started wet cough and sneezing at the age of 1 year, and it was ineffective to treat with repeated antibiotics and anti-asthma. Lung CT scan showed pulmonary atelectasis in the middle lobe of the right lung. Purulent nasal discharge could be seen through the nasepharyngoscope. Many purulent secretions in the bronchi could be seen under bronchofiberscope. Abnormal microtubule structure of cilia 9+2 was observed under electron microscopy, and a few cilia showed "9+0" and "9+3" structures. Second-generation sequencing confirmed a novel compound heterozygous mutation (c.7963G>T+c.1123 C>T) in HYDIN gene which originated from her parents respectively. There were no reports of this compound heterozygous mutation in literature and databases. Conclusion　C.7963G>T+c.1123 C>T is a novel compound heterozygous mutation in HYDIN gene which may cause PCD in children, and the symptoms are related to the genotype.

Clinical analysis of Mycoplasma pneumoniae plastic bronchitis in 5 children

JIANG Lili, WAN Jiao, SUO Fengtao, et al

Journal of Clinical Pediatrics. 2019, 37(4):  273.  doi:10.3969/j.issn.1000-3606.2019.04.008

Abstract ( 417 )   PDF (1431KB) ( 272 )  

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　Objective　To analyze the clinical characteristics of Mycoplasma pneumoniae plastic bronchitis. Method　The clinical data of Mycoplasma pneumoniae plastic bronchitis in 5 children were retrospectively analyzed. Results　Five children (4 boys and 1 girl) all had cough and high fever and the fever duration was 5~13 days. Dyspnea and respiratory failure were found in 3 children, toxic hepatitis in 2 children, toxic encephalopathy in 1 child, toxic myocarditis in 1 child, and iliac vein and femoral vein thrombosis in 1 child. Chest imaging examination showed unilateral atelectasis with pulmonary consolidation in 5 children. Plastic bronchitis was confirmed on the 4th to 10th day of the disease course by bronchoscopy. 4 patients had bronchial obstruction and 1 patient had main bronchus obstruction. The plastic body was removed completely by bronchoscopy for 2-4 times. The children were cured clinically and discharged. Conclusion　Plastic bronchitis should be considered in children with Mycoplasma pneumoniae pneumonia combined with dyspnea, unilateral atelectasis/consolidation. Bronchoscopy plays an important role in confirming diagnosis and improving prognosis.

Early predictive value of urinary IGFBP-7 in acute kidney injury in critically ill children

DAI Xiaomei, CHEN Jiao, LU Chunjiu, et al

Journal of Clinical Pediatrics. 2019, 37(4):  277.  doi:10.3969/j.issn.1000-3606.2019.04.009

Abstract ( 312 )   PDF (1119KB) ( 220 )  

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Objective　To explore the early predictive value of urinary insulin-like growth factor binding protein 7 (IGFBP-7) in acute kidney injury (AKI) in critically ill children. Method　The children admitted to PICU from May to August 2012 were selected as the research subjects. They were divided into mild AKI (AKI phase 1), severe AKI (AKI phase 2 and 3) and non-AKI groups. The IGFBP-7 levels in first 24-hour urinary were detected and the pediatric risk of mortality Ⅲ (PRISM Ⅲ) score was calculated 24 hours after admission. Multivariate logistic regression analysis was used to evaluate the relationship between urinary IGFBP-7 and AKI after correction of confounding factors. The early predictive value of urinary IGFBP-7 for AKI in critically ill children was evaluated by ROC and AUC. Results　A total of 144 children with critical illness were enrolled. AKI occurred in 21 children (14.6%) within 120 hours after sample collection, including 11 children with severe AKI. The urinary IGFBP-7 level and PRISM III score in the first 24 hours after PICU admission were higher in severe AKI group than those in mild AKI group and non-AKI group, and differences were significant (both P<0.05). Logistic regression analysis showed that urinary IGFBP-7 was an independent risk factor for severe AKI (OR=2.93, 95%CI: 1.07~8.03, P=0.037) after adjusting for age, body mass and PRISM III score, and its predicting value was 0.79 by AUC (95%CI: 0.66~0.92, P=0.001). Conclusion Urinary IGFBP-7 is an independent predictor of severe AKI in critically ill children and has early predictive value.

Comparison of T-cell spot test, smear test, and tuberculin test in the diagnosis of tuberculosis in children

LIU Zhenmin, ZHAO Ruiqiu, XU Hongmei

Journal of Clinical Pediatrics. 2019, 37(4):  282.  doi:10.3969/j.issn.1000-3606.2019.04.010

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Objective　To evaluate the diagnostic value of T-cell spot test (T-SPOT.TB), smear test and tuberculin skin test (TST) in tuberculosis of children. Method　A retrospective study was conducted in 299 hospitalized children suspected of tuberculosis from January to December 2015 to compare the diagnostic value of three detection methods in tuberculosis of children. Results　Of 299 children, 135 had tuberculosis (52 confirmed and 83 clinically diagnosed) and 164 had nontuberculosis. The sensitivity and specificity of T-SPOT.TB, smear test and TST in the diagnosis of tuberculosis were 78.20%, 24.24% and 42.98% (P<0.001), and 97.56%, 100% and 96.52% (P=0.107), respectively; Yoden index was 75.76%, 24.24% and 39.50%, and positive predictive value was 96.30%, 100% and 96.52%, and negative predictive value was 84.66%, 55.36% and 68.14%, respectively. The sensitivity of T-SPOT.TB, smear test and TST were 67.35%, 20.83% and 51.28% in children<5 years old; and 84.52%, 38.67% and 26.19% in children>5 years old, respectively. In tuberculosis group and extrapulmonary tuberculosis group, the sensitivity of T-SPOT.TB was 86.02% and 60%, and TST 44.71% and 37.93%, and smear test only 27.96% and 18.42% respectively. In pulmonary tuberculosis group and the multi-organ (including lung) tuberculosis group, the sensitivity of T-SPOT.TB was 83.87% and 90.32%, TST 53.45% and 25.93%, and smear test 27.41% and 29.03%, respectively. Conclusion　T-SPOT.TB is high in sensitivity, specificity, Yoden index, positive predictive value and negative predictive value. It has higher sensitivity in different age groups, pulmonary tuberculosis and extrapulmonary tuberculosis children.

Intractable epilepsy caused by SZT2 gene mutation in 3 children

LI Jieling , CAO Jie

Journal of Clinical Pediatrics. 2019, 37(4):  288.  doi:10.3969/j.issn.1000-3606.2019.04.011

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　Objective　To explore the clinical manifestations and prognosis of intractable epilepsy caused by SZT2 gene mutation in 3 children. Method　Clinical data and follow-up results of 3 children with intractable epilepsy caused by SZT2 gene mutation were analyzed and summarized. Results　Two boys and 1 girl presented intractable epilepsy at the age of 4 months, 10 months and 18 months respectively, accompanied by mental retardation, special facial features (high forehead, blepharoptosis, eyelid ptosis and bow shaped eyebrow), lower limb muscle tone and enlarged head circumference. All of them had severe epileptic encephalopathy, and one boy died of repeated convulsions (onset at age of 10 months). The genetic test results showed all of 3 children had SZT2 gene mutation. Conclusion　For children having intractable epilepsy without obvious inducement accompanied by mental retardation, genetic testing should be completed as soon as possible to make a clear diagnosis.

Correlation between magnetic resonance spectroscopy and cognitive function in children with global developmental delay

ZHU Dengna, MA Na, WANG Jun, et al

Journal of Clinical Pediatrics. 2019, 37(4):  292.  doi:10.3969/j.issn.1000-3606.2019.04.012

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Objective　To explore the characteristics of metabolites in the bilateral frontal white matter and hippocampus of children with different degrees of global developmental delay (GDD) and to explore their correlation with cognitive function. Method　Sixty-six children with GDD who had no obvious abnormalities by cranial magnetic resonance examination were enrolled. The cognitive function was assessed by Gessell developmental schedule. According to the developmental quotient (DQ), they were divided into mild developmental delay group (24 cases), moderate developmental delay group (20 cases), and severe developmental delay group (22 cases). The magnetic resonance spectroscopy (MRS) technique was used to calculate the relative values of N-acetylaspartate/creatine (NAA/Cr), choline/creatine (Cho/Cr), NAA/(Cho+Cr) in the bilateral frontal white matter and hippocampus which were selected as regions of interest. The metabolite levels in mild, moderate and severe developmental delay groups were compared and their correlation with disease severity and cognitive function was discussed. Results　There was no difference in the levels of NAA/Cr, Cho/Cr and NAA/(Cho+Cr) in bilateral frontal white matter and hippocampus among the three groups (P>0.05). Metabolite concentrations were not associated with disease severity and cognitive function (P>0.05). Conclusion　MRS examination of the bilateral frontal white matter and hippocampus in children with global developmental delay is of little value in evaluating the disease severity and cognitive function.

Bainbridge-Ropers syndrome in children: a case report and literature review

ZHANG Guangyu, WANG Jun, LI Sansong, et al

Journal of Clinical Pediatrics. 2019, 37(4):  297.  doi:10.3969/j.issn.1000-3606.2019.04.013

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　Objective　To explore the clinical characteristics of Bainbridge-Ropers syndrome. Method　Clinical data and gene test results of Bainbridge-Ropers syndrome in a child were retrospectively analyzed, and related literature was reviewed. Results　A girl aged 11 months had feeding difficulties, failure to thrive, developmental retardation, specific facial features (microcephaly, arched eyebrows, upslanting palpebral fissures, anteverted nares and low ear), ulnar deviation of the hands, and hypotonia of the four limbs. Genomic sequencing showed ASXL3 gene has a de novo heterozygous mutation, C. 3106 (exon 12) C > T, resulting in a protein change to P. (Arg1036*). Conclusion　Gene detection is helpful for the early diagnosis of Bainbridge-Ropers syndrome.

Activated PI3K-δ syndrome caused by PIK3CD gene mutation: a case report and literature review

ZHENG Jing, XIAO Yangyang, LIU Liqun, et al

Journal of Clinical Pediatrics. 2019, 37(4):  301.  doi:10.3969/j.issn.1000-3606.2019.04.014

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　Objective　To explore the clinical characteristics and pathogenic genes of activated PI3K-δ syndrome (APDS). Method 　The clinical data of APDS in a child was retrospectively analyzed. Results　A boy aged 3 years and 9 months presented recurrent respiratory infections, hepatosplenomegaly and growth retardation. The DNA was extracted from the peripheral blood of the child and his parents. The sequence analyses were performed by whole exome sequencing technology and the mutant gene was validated by Sanger sequencing. A novel heterozygous missense mutation (De novo), c.3061G>A (E1021K), was found in the PIK3CD gene in the child, and both his parents had normal genotypes. PIK3CD gain-of-function mutations leads to enhanced activity of the encoded p110δ. The PI3K-PIP3-AKT-mTOR signaling pathway is over-activated, which induces cell differentiation and proliferation, and thus the disease is caused. So the mutation is a pathogenic mutation. Conclusion　PI3K-δ overactivation syndrome is a rare autosomal dominant immunodeficiency disease, and genetic testing can assist the diagnosis.

Neuroblastoma with refractory diarrhea as the main symptom: report of 2 cases and literature review

WANG Yilin, SUN Yan, XU Qianwen, et al

Journal of Clinical Pediatrics. 2019, 37(4):  304.  doi:10.3969/j.issn.1000-3606.2019.04.015

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　Objective　To summarize the clinical characteristics of neuroblastoma (NB) with refractory diarrhea as the main symptom in children. Method　The clinical data of neuroblastoma with refractory diarrhea as the main symptoms in 2 children were retrospectively analyzed and the literature was reviewed. Results　Both cases of neuroblastoma were female and over one year old and suffered from refractory diarrhea and hypokalemia. In case 1 neuroblastoma was confirmed by postoperative pathology and recurrent diarrhea occurred during chemotherapy. In case 2 onset symptom was diarrhea which was also most obvious symptom. She had electrolyte disturbance, abdominal distension and weight loss. Palpable abdominal mass was observed in the child. Neuroblastoma was diagnosed by imaging and pathological examination. Both cases were ganglion cell type NB, and their symptoms were relieved after surgery combined with chemotherapy. Both survived disease free. Conclusion　Neuroblastoma with refractory diarrhea as the main symptom is rare. There is no standard diagnosis and treatment. The combination of surgery and chemotherapy is effective.

Chronic diarrhea caused by mutation of LIG4 gene: a case report and literature review

ZHONG Shuwen, JIANG Lirong, DENG Chaohui, et al

Journal of Clinical Pediatrics. 2019, 37(4):  308.  doi:10.3969/j.issn.1000-3606.2019.04.016

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Objective　To explore the pathogenesis and diagnosis of LIG4 syndrome. Method　The clinical data and gene test results of LIG4 syndrome in a child were retrospectively analyzed. Results　A 18-month-old boy suffered from chronic diarrhea, accompanied with mix??CalibriCalibri BoldBold癤???' 9?``?
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TCRαβ T cell/B cell-depleted hematopoietic stem cell transplantation for primary immunodeficiency

XU Qiling, An Yunfei

Journal of Clinical Pediatrics. 2019, 37(4):  312.  doi:10.3969/j.issn.1000-3606.2019.04.017

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Primary immunodeficiency disease (PID) is a rare monogenic hereditary disease with severe clinical manifestations and high mortality. Early diagnosis and complete immune reconstitution in a timely and effective manner is the key to prognosis. Nowadays, gene therapy is still in the experimental stage, and hematopoietic stem cell transplantation is currently the only means of reconstructing immunity. TCRαβ T cell/B cell-depleted hematopoietic stem cell transplantation as a novel T-cell-free transplantation strategy has been gradually used in the radical treatment of primary immunodeficiency disease in children in recent years. It has achieved satisfactory results in the prevention and control of graft-versus-host disease and the reduction of post-transplant infection. This article reviews its biological basis and recent progress.

Pathogenesis and countermeasures of neonatal tracheomalacia

DAI Lina, CAI Wei, SHI Chengren

Journal of Clinical Pediatrics. 2019, 37(4):  317.  doi:10.3969/j.issn.1000-3606.2019.04.018

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