Journal of Clinical Pediatrics

Clinical manifestations and gene analysis of two children with cardio-facio-cutaneous syndrome: identification of a severe phenotype

HU Yuhui, LIU Lin, LI Boning, et al

Journal of Clinical Pediatrics. 2020, 38(8): 561. doi:10.3969/j.issn.1000-3606.2020.08.001

Abstract ( 739 )

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　Objective　To investigate the clinical manifestations and genetic features of two patients with severe cardiofacio-cutaneous syndrome. Methods　High throughput sequencing was applied to detect the genetic change of two children with severe cardio-facio-cutaneous syndrome. The clinical manifestations and genetic characteristics were analyzed, and literature was reviewed. Results　Both of the two patients had severe feeding problems, mental retardation and motor delays after birth. Besides the typical craniofacial features and cardiac malformations, laryngotracheal abnormalities were observed. Both patients died before six months old. Genetic detection revealed de novo heterogenous mutations in BRAF gene (1783T>C, p.F595L and c.770A>G, p.Q257R). Conclusion　This is the first report of severe cardio-facio-cutaneous syndrome caused by BRAF gene mutation in China, coupled with features such as severe neurologic abnormalities, gastrointestinal symptoms and laryngotracheal abnormalities. The prognosis is poor.

Genotype-phenotype analysis of two cases with Joubert syndrome 17 in a family

HUANG Qinrong, LUO Minna, CHEN Yuxia, et al

Journal of Clinical Pediatrics. 2020, 38(8): 566. doi:10.3969/j.issn.1000-3606.2020.08.002

Abstract ( 1018 )

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　Objective　To explore the clinical feature, genotype-phenotype correlations of Joubert syndrome (JS). Methods　Clinical data, imaging features of two children with JS in a family were collected, targeted genome sequencing was applied to examine the DNA sample of all the members of the family. Literatures of JS were reviewed. Results　The sister is 18 years old, and younger brother was 13 years old, their main manifestations were hypotonia and developmental delay. No anomaly was found in eye, kidney, and liver. Brain MRI showed "molar tooth sign". Intelligence quotient (IQ) of the sister and the younger brother by Wechsler Intelligence Scale was 64 and 71, respectively. Genetic tests revealed compound heterozygous variants of c.8263dupA inherited from mother and c.-47-3C> A from father in the CPLANE1 gene which were segregated in an autosomal recessive mode of inheritance. The siblings were diagnosed as JS type 17, classic JS. Conclusion　The variants in the CPLANE1 gene of the siblings were firstly reported in China.

Clinical analysis of epilepsy with cognitive development disorder caused by SYNGAP1 gene mutation in three cases

TIAN Yang, PENG Bingwei, LI Jinliang, et al

Journal of Clinical Pediatrics. 2020, 38(8): 571. doi:10.3969/j.issn.1000-3606.2020.08.003

Abstract ( 1370 )

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　Objective　To explore the clinical characteristics of epilepsy with cognitive development disorder caused by SYNGAP1 gene mutation in children. Methods　The clinical data of three children with SYNGAP1 mutation revealed by secondgeneration sequencing from 2017 to 2019 were collected and analyzed retrospectively. Results　There were three cases (2 boys and 1 girl), all of them had onset in childhood. Their epileptic attacks were eyelid myoclonia with absence, myoclonic atonic and focal seizure, respectively. All of the three children had cognitive abnormalities, one of them had stereotyped, aggressive behavior, lacking of eye contact and social interaction. No convulsion or developmental disorder was found in their parents and other family members. Three children all had de novo heterozygous mutations in SYNGAP1 gene with autosomal dominant inheritance. The variations include c.623delC (p.P208Qfs*15) in exon 6, c.67+1G＞A (splicing) in exon 1 and c.2158G＞A (p.Asp720Asn) in exon 13, respectively, among which the missense mutation in exon 13 caused focal seizure. Conclusion　SYNGAP1 gene mutation can lead to epilepsy with cognitive developmental disorders, and epileptic seizures has clinical diversity.

Unilateral Möbius syndrome in a neonate: a case report and literature review

ZHANG Fengjuan, XU Haiyan

Journal of Clinical Pediatrics. 2020, 38(8): 575. doi:10.3969/j.issn.1000-3606.2020.08.004

Abstract ( 444 )

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　Objective　To explore the clinical and genetic characteristics of M?bius syndrome in neonates. Methods　The clinical data of a neonate with unilateral M?bius syndrome was retrospectively analyzed, and the relevant literature was reviewed. Results　A female neonate manifested with paralysis of the left facial nerve and abducens nerve immediately after birth. Amplitude integrated electroencephalogram and auditory brainstem evoked potential were abnormal. No pathogenic variations accounting for the phenotypes of the patient were found by whole exome sequencing. Two compound heterogenous mutations in AGRN gene were identified. The baby was hospitalized for 8 days and died on the day of her own discharge. Conclusions　The diagnosis of neonatal M?bius syndrome is still based on clinical manifestations. There may be other developmental abnormalities or syndromes. Comprehensive rehabilitation treatment should be started as early as possible to improve prognosis.

Analysis of a pedigree with mitochondrial disease caused by POLG gene mutation

PENG Bingwei, ZENG Yiru, HOU Chi, et al

Journal of Clinical Pediatrics. 2020, 38(8): 578. doi:10.3969/j.issn.1000-3606.2020.08.005

Abstract ( 1117 )

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　Objective　To explore the clinical phenotype and gene variation of patients with mitochondrial disease caused by POLG gene variation in a family. Methods　The clinical data of a patient diagnosed with mitochondrial disease caused by POLG gene mutation in May 2019 were analyzed retrospectively. The peripheral blood DNA was collected for next generation sequencing (NGS), and Sanger sequencing was performed to verify the variations detected by NGS. Results The proband, a 10-year-old boy, had the same physical signs as his twin elder brother, including deep sensory impairment, disappearance of tendon reflex, and suspected muscular atrophy. Three elder brothers and elder sisters of the proband died in their first years. Blood samples were collected from family members, including the proband’s parents and siblings. Two compound heterozygous variations of c.2558 G >A (p.R853Q) and c.2890>T (p.R964C) in POLG gene were found in both the proband and his living twin elder brother, which inherited form both of their father and mother, respectively. Conclusions　Phenotypes are different among the family members of mitochondrial disease with POLG gene mutations. The clinical heterogeneity of POLG-related diseases is great even with same variation.

A novel mutation in the PMPCB gene associated with multiple mitochondrial dysfunction syndrome 6 and literature review

WU Yuhui, ZHANG Tao, YANG Yanlan, et al

Journal of Clinical Pediatrics. 2020, 38(8): 582. doi:10.3969/j.issn.1000-3606.2020.08.006

Abstract ( 661 )

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　Objectives　To investigate the clinical and PMPCB genetic mutation features of multiple mitochondrial dysfunctions syndrome 6 (MMDS6). Methods　The clinical data of a case with MMDS6 were retrospectively analyzed and related literature was reviewed. Results　A 5-months-old boy presented with poor weight gain and feeding difficulty, delayed motor development and hypotonia, with lactic acidosis and heart failure. Echocardiography showed pulmonary hypertension. A homozygous nucleotide variation of c.524G>A in PMPCB gene was found through whole-exome and mitochondrial genome sequencing analysis, which has not been reported before in literature and both parents were heterozygotes. Conclusion　The homozygous nucleotide variation c.524G>A in PMPCB gene was pathogenic variants for MMDS6. Next-generation sequencing may provide diagnosis for the disease.

AKT3-related megalencephaly: a case report and literature review

WAN Ruiping, LIU Zhigang, YE Xingguang, et al

Journal of Clinical Pediatrics. 2020, 38(8): 587. doi:10.3969/j.issn.1000-3606.2020.08.007

Abstract ( 476 )

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　Objective　To investigate the clinical features of AKT3-related megalencephaly (MEG). Methods　The patient's clinical manifestations, laboratory examination and genetic analysis were analyzed retrospectively and related literatures were reviewed. Results　A 4-month-old girl with large head size and developmental delay was reported. This female patient was 39+4 weeks of gestational age with birth weight of 3120 g and no asphyxia at birth. The clinical features included progressive enlargement of head size with age, prominent forehead and occiput, developmental delay and mild hypotonia. Gesell development scale demonstrated mild global developmental delay with a full scale score of 69. Brain MRI showed mild ventriculomegaly and loss of bilateral white matter with no abnormalities of cortical signals. Brain MRA and EEG were normal. No abnormalities were shown in biochemistry metabolism tests and chromosome karyotype analysis. Whole exome sequencing revealed a de novo missense mutation c.1393C>T (p.Arg465Trp) in AKT3 gene. According to ACMG, the mutation was "2-Likely pathogenic". Therefore, the girl was diagnosed with AKT3 related MEG. Though several cases with this mutation were reported abroad, there was no relevant report in domestic after reviewing the literatures. Conclusions　The main clinical features of AKT3 related MEG include progressive enlargement of head size, various range of developmental delay, some with epilepsy and autism, and some with polymicrogyria or focal cortical dysplasia. The clinical spectrum of this disease is very broad. And gene sequencing can help the diagnosis of this disease.

A novel CLDN16 mutation in familial hypomagnesemia with hypercalciuria and nephrocalcinosis: a case report and literature review

LIN Jiao, FENG Chunyue, MAO Jianhua

Journal of Clinical Pediatrics. 2020, 38(8): 591. doi:10.3969/j.issn.1000-3606.2020.08.008

Abstract ( 536 )

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Objective　Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is an autosomal recessive genetic disease caused by CLDN16 or CLDN19 gene mutation. This paper is aimed to discuss the clinical characteristics and disease—causing mutations in FHHNC. Methods　Clinical data of a patient with FHHNC was retrospectively analyzed. Results　A two months old patient with hypomagnesemia and nephrocalcinosis in bilateral kidneys was admitted. The child had low blood magnesium and high urinary calcium; renal ultrasound indicated enhanced renal medullary echo, with repeated positive results of the urine cultures of Escherichia coli. Gene sequencing showed two heterozygous variants c.324+1G>C, c.317C>T in the CLDN16 gene (p.Ser106Phe). It was clinically improved after being treated orally with anti-infection and 25% magnesium sulfate, potassium magnesium aspartate, and 10% sodium citrate. Conclusion　FHHNC is a rare disease with poor prognosis. At present, there is no special treatment except transplantation. Gene testing is helpful for early diagnosis of FHHNC.

Clinical feature and genetic analysis of mucolipidosis II and III α/β caused by mutation of GNPTAB gene: a report of 3 cases and literature review

ZHANG Qianwen, WANG Yirou, LI Qun, et al

Journal of Clinical Pediatrics. 2020, 38(8): 595. doi:10.3969/j.issn.1000-3606.2020.08.009

Abstract ( 926 )

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Objective　To analyze the clinical features and genetic characteristics of mucolipidosis (ML) II and III α / β. Methods　The clinical data of 3 children with ML II and III α / β caused by mutation of GNPTAB gene were retrospectively analyzed, and relevant literatures were reviewed. Results　Two children, aged 8 years and 3 months and 23 months, respectively, were Han nationality males from the same family. Both of them showed different degrees of joint contracture and short stature. The other child was a 19 months old girl, with symptom of growth retardation, shallow orbits, collapsed nose bridges, protruding mouth and low-set ears. She also had a history of repeated respiratory infections. Genetic testing showed that two male children had a compound heterozygous variant of c.1284+1G > T and c.1370C > T (p.Pro436Leu) in the GNPTAB gene. The female child had homozygous variants of c.1090C > T (p.Arg364*) in the GNPTAB gene. The parents of three patients carried heterozygous variants of the GNPTAB gene. Conclusions　Mutations of GNPTAB gene can result in ML II and III α / β that should be differentiated clinically.

Congenital generalized lipodystrophy caused by mutation of AGPAT2 gene: a case report and literature review

MENG Yuanyuan, WU Wei, HUANG Ke, et al

Journal of Clinical Pediatrics. 2020, 38(8): 599. doi:10.3969/j.issn.1000-3606.2020.08.010

Abstract ( 541 )

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Objective　To report a case of congenital generalized lipodystrophy, with mutation in AGPAT2 gene. Method Clinical data, the result of laboratory and gene tests were retrospectively analyzed, and related literatures were reviewed. Result A 12-year-old girl was admitted into our department for polydipsia, diuresis and weight loss. Physical examination and laboratory tests found the triangle face, lack of subcutaneous fat, strong muscles, acanthosis nigricans, diabetes, hypertriglyceridemia and fatty liver. The gene test identified compound heterozygous mutations of c.379G>C inherited from her father and c.317-10T>A inherited from her mother in AGPAT2 gene. According to the ACMG guidelines, c.379G>C is likely pathogenic while c.317-10T>A is of uncertain significance. After treatment of insulin and metformin, the patient’s blood glucose is well controlled. Conclusion This case is the second case with AGPAT2 gene mutation reported in China. C.379G>C and c.317-10T>A are novel mutations which have not been reported.

Assessment of cow’s milk-related symptom scores in early identification of cow’s milk protein allergy in infants in Shenzhen: a multi-center survey analysis

LI Weiyan, ZHOU Shaoming, WANG Shaohua, et al

Journal of Clinical Pediatrics. 2020, 38(8): 603. doi:10.3969/j.issn.1000-3606.2020.08.011

Abstract ( 566 )

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Objective　To explore the prevalence of cow’s milk allergy in infants in Shenzhen, China and to evaluate Cow’s milk-related Symptom Scores (CoMiSS) in predicting cow’s milk protein allergy (CMPA) in infants. Methods　A total of 210 infants with suspected CMPA (114 boys and 96 girls) with median age of 4.5 months old (1-12 months) from 6 hospitals including two municipal hospitals and four district hospitals were enrolled to calculate CoMiSS and eliminate food during June 2016 to May 2017. The 210 infants were diagnosed as CMPA or exclude CMPA by oral food challenge (OFC) test. Sensitivity and specificity of CoMiSS by ROC curve were determined, and CoMiSS in predicting CMPA in infants was evaluated as well. Results　The median CoMiSS were 7.0 (6.0~8.3), 4.0 (3.0~5.0) and 3.0 (2.0~4.0) in CMPA group, non-CMPA group and control, respectively, which showed significant differences among three groups（H=152.58, P<0.01）. Calculated by ROC curve, the area under curve of ROC was 0.90. The cut-off was 5.5. The sensitivity of CoMiSS was 87.8%, while its specificity was 78.1%. Conclusion　CoMiSS is an easy, safe tool to predict CMPA which is suitable for application in pediatric clinic and digestive clinic. It needs more multi-center studies to evaluate the criterion of integral CoMiSS≥6 in recognition of CMPA or add some scores of bloody stool.

Etiology and clinical analysis of bronchoalveolar lavage fluid in children with lobar pneumonia

ZHANG Li, ZHANG Wei, YUAN Bo, et al

Journal of Clinical Pediatrics. 2020, 38(8): 607. doi:10.3969/j.issn.1000-3606.2020.08.012

Abstract ( 482 )

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Objective　To analyze the main pathogen types and clinical characteristics of lobar pneumonia in children. Methods　Clinical data of 149 hospitalized children of lobar pneumonia who performed bronchoalveolar lavage fluid (BALF) collecting in March 2015 to March 2019 were collected. Fluorescence quantitative PCR (FQ - PCR) is used to detect pathogens in BALF, and enzyme-linked immunosorbent (assay) was used to detect serum Mycoplasma pneumoniae (MP) antibody specificity (MP - IgM). Clinical pulmonary infection score (CPIS) difference between the two kinds of detection methods, different ages group, the MP pneumonia and non-MP pneumonia, mixed infection and single infection were compared. Results There were 129 cases with positive pathogen, among which 71 were male (55.0%), 58 were female (45.0%), 18 were 1-3 years old (14.0%), 40 were ~6 years old (31.0%), and 71 were ~14 years old (55.0%). There are 107 cases of MP, 18 cases of Streptococcus pneumoniae (SP), 12 cases of adenovirus (ADV), 6 cases of Haemophilus influenzae (HI), 3 cases of Klebsiella pneumoniae (KP), 3 cases of respiratory syncytial virus (RSV) and 2 cases of Chlamydia pneumoniae (CP).There were 23 cases of mixed infection, most of which were MP and SP. There were 10 cases of bacterial and viral infection in the 1-3 year old group, accounting for 55.6% of the positive cases in the same age group. There were 99 cases of MP infection above 3 years old, accounting for 92.5% of the MPpositive cases. In 107 cases of MP infection, the positive rate of MP in BALF detected by FQ-PCR was higher than that in the serum of MP-IgM, with significant difference (P< 0.05). Compared with non-MP pneumonia, MP pneumonia was more prone to pleural effusion, abnormal liver function and nervous system involvement (P< 0.05). The difference between mixed infection and single infection in CPIS ≥ 6 was significant (P< 0.05). Conclusions　The detection rate of MP in children with lobar pneumonia is the highest, followed by SP and ADV. The pathogens of infection are different in different age groups. Mixed infections are more likely to be severe or difficult to be treated.

Desquamative interstitial pneumonia in children: a case report and literature review

LI Linlin, LIANG Hui, YAO Jin, et al

Journal of Clinical Pediatrics. 2020, 38(8): 612. doi:10.3969/j.issn.1000-3606.2020.08.013

Abstract ( 355 )

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Objective　To explore the pathology, clinical manifestation, diagnosis, treatment and prognosis of desquamative interstitial pneumonia (DIP) in children. Methods　A child with DIP admitted to Children’s Hospital Affiliated to Nanjing Medical University was analyzed retrospectively. The final diagnosis was made based on the principle of clinicalradiologic-pathologic diagnosis. Related literatures were reviewed. Take “desquamative interstitial pneumonia” and “child” as the search word, 42 cases were retrieved in PubMed until July 2019. Eleven (11) cases in China were retrieved in Wanfang Med Online. 30 cases with complete clinical data and a case in this study were included. The pathological, clinical, and radiological features, lung function, response to treatment and prognosis were summarized. Results　A 4-year-old boy presented with chronic cough for 1 month and tachypnea, moist rales and clubbed-fingers. The lung CT showed ground-glass and reticular opacities. After treatment with antibiotics, the condition was not improved. A diagnosis of DIP was confirmed by a thoracoscopic right lung biopsy. The symptoms disappeared after the steroid therapy, and the abnormal findings of chest radiography mostly resolved after 44 months follow-up. A total of 31 cases (14 males and 13 females, gender for 4 cases were not mentioned) were selected into the study with age ranged from newborn to 13 years old. DIP in children is mostly related to an inborn error of surfactant metabolism, and can be idiopathic. Other factors such as secondhand cigarette exposure, drugs as well as systemic disease may be associated with DIP. The main symptoms included dyspnea and dry cough, the chest imaging mostly shows ground glass changes, and pulmonary function tests mainly show a restrictive defect. Main treatments included corticosteroids and immunosuppressive therapy. Conclusions　DIP is less frequent with different etiology in children than in adults. Lung biopsy should be performed as early as possible for early diagnosis. DIP is curable to steroid and/or other immunosuppressive drugs.

Head-up tilt test induced vagal atrial fibrillation: a case report

XIN Yili，GU Beiyin，GUO Ying, et al

Journal of Clinical Pediatrics. 2020, 38(8): 616. doi:10.3969/j.issn.1000-3606.2020.08.014

Abstract ( 496 )

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Objective　To explore the cause of atrial fibrillation during the head-up tilt test（HUTT). Method　The data of a child with vasovagal syncope in whom atrial fibrillation was induced in HUTT was analyzed retrospectively, and the related literatures were reviewed. Result　A 7-year-old girl was admitted with a history of 2 episodes of loss of consciousness last year. Each episode lasted for 2 minutes. There were no unusual neurological findings, and the blood chemistry results were all normal. Electrocardiogram and echocardiography did not reveal any abnormalities. Electroencephalogram, CT scans of the brain were normal. During the HUTT, 40 minutes after the start of tilting, the child felt nausea and chest tightness with pale face, at that time her blood pressure and heart rate were 87/49 mmHg and 50 beats/min. During lying down, the girl’s ECG showed sinus arrest of 5.3 seconds followed with escape rhythm of atrioventricular junction, atrial premature, atrial fibrillation. After half a year's health education and autonomic nerve function training, there was no syncope or atrial fibrillation. Conclusion　Increased vagal tone may induce atrial fibrillation during the head-up tilt test.

Spasms after herpes simplex encephalitis ：three cases and literature review

WAN Lin, YANG Guang, LI Zhichao, et al

Journal of Clinical Pediatrics. 2020, 38(8): 618. doi:10.3969/j.issn.1000-3606.2020.08.015

Abstract ( 578 )

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　Objective　To investigate the clinical features and diagnosis and treatment of spams after herpes simplex encephalitis. Methods　The clinical data of three cases of herpes simplex encephalitis complicated with spasm were retrospectively analyzed, and “herpes simplex encephalitis” “seizures” “spasms” as the keywords were searched on PubMed, CNKI, Wanfang Medical Online and the relevant literatures were reviewed. Results　Three cases of children had a history of childhood herpes simplex viral encephalitis and spasms onset in the infancy stage. The brain MRI showed abnormality. Patient 1 and 2 treated with ACTH showed partial seizure control. Patient 3 received the vagal nerve stimulation. Patient 2 recurred after short-term remission. All the three patients had seizures during the follow-up, and the therapeutic effect was poor. With "herpes simplex encephalitis, epilepsy, spasmodic seizures" as the key words, a total of 3 English literatures were searched on CNKI, Wanfang database and PubMed, 20 children with long-term follow-up were found to have developed into drug-refractory epilepsy with poor prognosis. Conclusion　The drug treatment effect and prognosis of spasms after herpes simplex encephalitis is poor.

Clinical features of paraneoplastic neurological syndrome

FANG Qiong, CHEN Lang, CHEN Qiaobin, et al

Journal of Clinical Pediatrics. 2020, 38(8): 622. doi:10.3969/j.issn.1000-3606.2020.08.016

Abstract ( 435 )

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Objective　To investigate the clinical features of abdominal tumor with paraneoplastic neurological syndrome (PNS) in children. Methods　Clinical features, CSF test, peripheral blood test, EEG, brain MRI and abdominal imaging test of 3 cases with PNS were retrospectively reviewed. Results　The three patients (two boys and one girl) were diagnosed as PNS with onset of neurological symptoms. The average age of PNS patients were 3.7±1.7 years old. The level of LDH in peripheral blood was elevated. More slow waves occurred in EEG. Abdominal imaging test showed abdominal tumors. The white cell count of CSF test was higher than normal and oligoclonal protein was found positive in one case. Brain MRI showed corresponding changes in two cases. Conclusions　The onset of PNS was dormant. Early diagnosis through CSF tests, LDH, brain MRI and abdominal imaging tests can help abdominal tumor patients to get early treatment.

Cost minimization analysis of diabetic pregnancies referred for fetal echocardiography

MENG Zhuo, WANG Jian, WU Yurong, et al

Journal of Clinical Pediatrics. 2020, 38(8): 626. doi:10.3969/j.issn.1000-3606.2020.08.017

Abstract ( 405 )

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　Objective　To assess the cost and effectiveness of the referral efficiency in the fetal cardiac screening of diabetic pregnancies. Method　Theoretical minimized cost analysis was performed in 199 diabetic pregnancies, to evaluate the cost and effectiveness of the screening strategy for these referrals. Results　In pregnancies referred for diabetes mellitus, nine children with congenital heart disease were finally screened out. The current cardiac screening strategy of anatomic survey and fetal echocardiography for all diabetic pregnancies, and postnatal echocardiography only for cases with prenatal detection of congenital heart disease or even benign findings as indicated, would cost 13045.67 CNY for each prenatal detection of congenital heart disease. If fetal echocardiography was performed in diabetic pregnancies with other referral indications and postnatal echocardiography were performed only in cases with prenatal detection of congenital heart disease or other benign findings, the cost of each prenatal detection of congenital heart disease would decrease to 8475.22 CNY. Conclusion　The economic analysis of diabetic pregnancies indicated that, the cardiac screening strategy of selective fetal echocardiography for diabetic pregnancies with other referral indications for fetal echocardiography after fetal anatomic survey and selective postnatal echocardiography only for cases with prenatal cardiac findings, was more cost-effective.

Children with chronic primary immune thrombocytopenia

YIN Mengmeng, LIU Aiguo, ZHANG Ai, et al

Journal of Clinical Pediatrics. 2020, 38(8): 631. doi:10.3969/j.issn.1000-3606.2020.08.018

Abstract ( 606 )

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　Primary immune thrombocytopenia (ITP) is an autoimmune disease with an incidence about 4~5/100000 in children. Most children with ITP (80% - 90%) return to normal within 12 months after diagnosis, but a few (10% - 20%) have thrombocytopenia for more than 1 year, turned into chronic ITP (CITP). The pathogenesis of CITP is not clear. It is believed that under the background of susceptible genes in children, the destruction of monocyte-macrophage system caused by autoimmune antibodies produced by infection and immune disorder results in thrombopenia. According to the recent research on ITP, this paper reviews the diagnosis, predictive factors and treatment of CITP.

Development of pediatric clinical trials at home and abroad

WANG Junyi, SHEN Jiajia, LI Chunmei, et al

Journal of Clinical Pediatrics. 2020, 38(8): 636. doi:10.3969/j.issn.1000-3606.2020.08.019

Abstract ( 705 )

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　Children are not smaller-sized adults, their tissues, organs and functions change dramatically from newborn to adolescence. Pediatric drug development and clinical trials are important safeguards for children's drug safety. However, pharmaceutical research and clinical trials are difficult to perform in children, which is a universal problem in the world. This article reviews the policies, regulations, and clinical trials of pediatric drugs in Europe, America, and China, which intends to provide references for the future development of pediatric drug clinical trials in China.

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