Journal of Clinical Pediatrics

The diagnostic approach of proteinuria

ZHANG Hongwen, YAO Yong

Journal of Clinical Pediatrics. 2020, 38(6): 401. doi:10.3969/j.issn.1000-3606.2020.06.001

Abstract ( 509 )

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Proteinuria is one of the common symptoms of kidney disease in children. At present, there is neither unanimous understanding of the classification of proteinuria, nor clear thoughts of diagnosis of proteinuria in pediatrics. This paper summarizes and organizes the classification and diagnosis of proteinuria, and proposes the concept of proteinuria in a broad and narrow sense, as well as the four-step diagnosis idea of qualitative, quantitative, location， and cause determination. It especially points out that the ratio of α 1 microglobulin to microalbumin close to or greater than 1 in urine can be used as the judgment standard for the location diagnosis of proteinuria in small molecule proteinuria.

Relationships of serum uric acid with clinical and pathological manifestations in children with Henoch-Schönlein purpura nephritis

WU Shufen, WU Fang, YANG Yuehong, et al

Journal of Clinical Pediatrics. 2020, 38(6): 406. doi:10.3969/j.issn.1000-3606.2020.06.002

Abstract ( 390 )

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Objective　To investigate the relationships of serum uric acid with clinical and pathological manifestations in children with Henoch-Sch?nlein purpura nephritis (HSPN). Methods　The clinical data of 82 children with HSPN were retrospectively analyzed. According to the levels of serum uric acid, these children were divided into hyperuricemia group (43 cases) and normal serum uric acid group (39 cases). The correlation of serum uric acid level with clinical indicators and pathological manifestations was analyzed, and the serum uric acid levels of children with different clinical subtypes of HSPN were analyzed. Results　Compared with the normal uric acid group, the 24-hour urinary protein content, serum creatinine level and blood cholesterol level were higher in the hyperuricemia group, while the serum albumin level and glomerular filtration rate were lower in the hyperuricemia group. The differences were statistically significant (P<0.05). Compared with the normal uric acid group, the proportion of pathological grading ⅠtoⅡwas lower, the proportion of crescent formation ≥25% was higher, and the proportion of renal tubular atrophy score of 1 and 2 was higher in the hyperuricemia group. The differences were statistically significant (P<0.05). The serum uric acid level of the children with isolated hematuria, isolated proteinuria, hematuria and proteinuria was lower than that of the children with nephrotic proteinuria, and the difference was statistically significant (P?

The relationship of infection with blood pressure and immunological indicators in children with IgA nephropathy

FU Qingying, LIU Yang, WANG Weihua, et al

Journal of Clinical Pediatrics. 2020, 38(6): 410. doi:10.3969/j.issn.1000-3606.2020.06.003

Abstract ( 506 )

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Objective　To explore the relationship of infection with blood pressure and immunological indicators in children with IgA nephropathy (IgAN). Methods　The clinicopathological data of 108 children with IgAN diagnosed by renal biopsy from January 2006 to December 2013 were collected. The patients were divided into the infected group (66 cases) and the non-infected group (42 cases) depending on whether there was infection prior to the onset. Blood pressure, serum levels of immunoglobulin and complement, and the deposition intensity of immunoglobulin and complement in renal tissue were compared between the two groups. Results　Compared with the non-infected group, the infected group had a higher proportion of gross hematuria, a greater pulse pressure, and higher serum IgA and IgG levels, and differences were statistically significant (P<0.05). There were statistically significant differences in the distribution of IgM and C3 deposition intensity in renal tissues between the two groups (P<0.05). The proportion of children with negative IgM deposition intensity was higher, and the proportion of children with C3 deposition intensity "++" was higher. Infection was positively correlated with gross hematuria, pulse pressure, serum IgA and IgG levels, and renal C3 deposition intensity (P<0.05), and negatively correlated with renal IgM deposition intensity (P<0.01). Conclusions　IgAN is often accompanied by infection before the onset in children, and infection is associated with pulse pressure, serum IgA and IgG, and IgM and C3 deposition intensity in renal tissue. These characteristics are significant in guiding the prevention and treatment of IgAN in children.

Primary hyperoxaluria type Ⅰ in children: a report of two cases and literature review

KUANG Qianhuining, GAO Chunlin, SHI Zhuo, et al

Journal of Clinical Pediatrics. 2020, 38(6): 414. doi:10.3969/j.issn.1000-3606.2020.06.004

Abstract ( 595 )

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Objective　To explore the clinical characteristics, diagnosis, and treatment of primary hyperoxaluria type Ⅰ (PHⅠ). Method　The clinical manifestations and laboratory examination results of PHⅠ in 2 children were retrospectively analyzed, and whole exon sequencing was performed in family members. Results　The ages at onset of the 2 children were 2 months and 1 year and 5 months respectively. Both had renal failure, accompanied by different degrees of anemia and nephrolithiasis. The homozygous variant of c.815_816GA was found in a child and the compound heterozygous variants of c.25_26 insC and c.815_816 insGA were found in another child in AGXT gene by whole exon sequencing. Kidney replacement combined with symptomatic treatment was performed after diagnosis of PHⅠ. Conclusion　PHⅠ has no specific clinical manifestations, and renal failure is developed rapidly in some children.

SLC4A1 compound heterozygous mutation causes hereditary spherical polycythemia with distal renal tubular acidosis: a case report and literature review

Chen Yan, Xu Shanshan, Bai Haitao, et al

Journal of Clinical Pediatrics. 2020, 38(6): 418. doi:10.3969/j.issn.1000-3606.2020.06.005

Abstract ( 572 )

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Objective　To explore the relationship between the clinical phenotype and genetic variation of hereditary sphrocytosis (HS) and distal renal tubular acidosis (dRTA) caused by SLC4A1 compound heterozygous mutation. Methods The clinical data of HS combined with dRTA in a child, as well as the results of peripheral blood exon sequencing and Sanger verification in the child and his parents was retrospectively analyzed. Results　The male patient, aged 1 year and 7 months old, was mainly suffered with transfusion-dependent hereditary sphrocytosis, metabolic acidosis, hypokalemia and growth retardation. Two reported missense variants, c.2102G>A p. (Gly701Asp) and c. 1988T> c p. (Met663Thr), were detected in the SLC4A1 gene of the child, respectively derived from his parents. Conclusion　The HS combined with dTA caused by SLC4A1 complex heterozygosity was confirmed by gene detection, which was consistent with autosomal recessive inheritance.

Steroid-resistant nephrotic syndrome caused by PLCE1 gene mutation: a case report and literature review

LI Wanghui, SU Dayong, QIANG Ruixue, et al

Journal of Clinical Pediatrics. 2020, 38(6): 422. doi:10.3969/j.issn.1000-3606.2020.06.006

Abstract ( 788 )

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Objective　To explore the clinical characteristics and gene variation of steroid-resistant nephrotic syndrome (SRNS) caused by PLCE1 gene mutation. Method　The clinical data of SRNS caused by PLCE1 gene mutation in a child diagnosed in April 2018 were analyzed and the relevant literature was reviewed. Results　The female child was 8 years and 11 months old. She had been diagnosed with primary nephrotic syndrome for more than 6 years. It was hormone-resistant, and the pathological diagnosis was focal segmental glomerulosclerosis (FSGS). Two heterozygous missense mutations of c.577G>A (p.V193I) and c.2770G>A (p.G924S) were found in PLCE1 gene in the child with nephrotic syndrome. Sanger sequencing verification showed that c.577G>A (p.V193I) came from the mother of the child (heterozygous state). The parents of the child had no variation of c.2770g>A (p.g924s), which was a new variation. These two mutations are all pathogenic mutations that have been reported. Conclusion　Mutations in the PLCE1 gene can cause autosomal genetic SRNS.

Changes of intestinal flora during Helicobacter pylori eradication therapy in children

YU Jialu, LI Zailing

Journal of Clinical Pediatrics. 2020, 38(6): 426. doi:10.3969/j.issn.1000-3606.2020.06.007

Abstract ( 529 )

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Objective To investigate the effect of Helicobacter pylori eradication treatment on intestinal flora in children, and to find out the flora that influence the effect of eradication treatment. Methods　Children diagnosed with Helicobacter pylori infection were treated with triple standardized treatment for 14 days, and feces were collected before treatment, 7 days after treatment and 14 days after treatment. The 16S rDNA sequencing was performed. According to the sampling time, the children were divided into pre-treatment group, 7-day treatment group, and 14-day treatment group. According to the treatment effect, the children were divided into treatment success group and treatment failure group. According to the history of the previous radical treatment, the children were divided into retreatment successful group and initial treatment successful group. The differences in flora among different groups were compared. Results　The dominant Phylum of Helicobacter pylori infection in children were Firmicutes, Bacteroidetes, Proteobacteria, Actinomycetes and Verrucomicrobia, and the dominant bacteria were Bacteroides, Faecalibacterium, Escherichia/Shigella, Bifidobacterium, Gemmiger and Klebsiella. Compared with the treatment success group, the relative abundance of Prevotella was increased in the treatment failure group, and the difference was statistically significant (P<0.001). The relative abundance of intestinal microflora changed among before treatment group, 7-day after treatment group and 14-day after treatment group, and the difference was statistically significant (P< 0.05). LEfSe analysis and rank-sum test between groups found that Arcobacter, Barnesia, Coprobacter, Coprococcus, Holdemanella, Thiopseudomonas were higher in the treatment failure group than those in the treatment success group, and the difference was statistically significant (LDA> 2). Compared with initial treatment successful group, the Acinetobacter, Weissella, Sutterella and Providencia in the retreatment successful group were significantly higher (LDA>2), while Alistipes, Erysipelothrix, Clostridium, Faecalibacterium, and Gemmiger were significantly reduced (LDA>2). Conclusions　Helicobacter pylori eradication treatment affects the structure of intestinal flora, which is manifested by the decrease of bacterial diversity and the changes of dominant flora. The growth of enteropathogenic bacteria may affect the eradication effect of Helicobacter pylori and result in the failure of eradication treatment.

Analysis of risk factors of death in severe pertussis in infant

WU Xiaoying, GAN Chuan

Journal of Clinical Pediatrics. 2020, 38(6): 432. doi:10.3969/j.issn.1000-3606.2020.06.008

Abstract ( 473 )

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Objective　To explore the risk factors of death in severe pertussis in infants. Methods　The clinical data of pertussis in infants including 25 dead cases (death group) and 80 severe cases (survival group) admitted from January 1, 2015 to October 31, 2019 were analyzed retrospectively. Results　In the death group, there were 5 males (20%), median onset age was 77 days and 20 patients (80%) had not received pertussis vaccine. The survival group had 47 males (58.8%, median onset age was 83 days and 63 patients (78.8%) had not been vaccinated. Compared with the survival group, the death group had fewer males, lower incidence of spasmodic cough, higher incidence of pulmonary consolidation (or atelectasis), more significantly increased peripheral white blood cell count (WBC), higher incidence of pulmonary hypertension, and lower proportion of gamma globulin usage, and the differences were statistically significant (P<0.05). Multivariate logistic regression analysis found that males and gamma globulin usage were the protective factors for the death in severe pertussis (OR=0.03, 0.03), the highest WBC and pulmonary hypertension were the risk factors for death (OR= 1.10, 13.31), and the death rate of children with spastic cough was lower (OR= 0.02). The optimal cut-off value of the highest WBC for predicting death is 55.37 × 109/L, and the area under curve (AUC) was 0.83 (95% CI: 0.73~0.93, P<0.001). Conclusions　Unvaccinated, hyperleucaemia and pulmonary hypertension significantly increased the mortality of severe pertussis in infants. The use of gamma globulin and early blood exchange may improve the prognosis of hyperleukaemia. Use hormones with caution.

Analysis of the factors influencing the quality of bowel preparation for colonoscopy in children

LI Dan, GUO Mengran, LIU Haifeng, et al

Journal of Clinical Pediatrics. 2020, 38(6): 438. doi:10.3969/j.issn.1000-3606.2020.06.009

Abstract ( 444 )

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Objective　To evaluate the quality of bowel preparation in children for colonoscopy and to explore the influencing factors. Methods　A total of 198 children who underwent colonoscopy between August 1, 2017 and March 31, 2018 were included prospectively. According to the Boston Bowel Preparation Scale (BBPS), the quality of bowel preparation was evaluated, and the general information of the child and the relevant situation of the bowel preparation process were collected. Multivariate logistic regression analysis was preformed to analyze the influencing factors of bowel preparation quality. Results Among the 198 children (116 males and 82 females) with an average age of (8.70±2.87) years, a total BBPS score was (7.45±1.31). The cleanliness degree of bowel preparation was excellent in 104 cases (52.5%), good in 74 cases (37.4%), and poor in 20 cases (10.1%). The adverse reactions occurred in 90 cases (45.5%). There were statistically significant differences in the history of constipation, the number of stools after taking medicine, the last stool characteristics, adverse reactions, and the exercise before, during and after taking medicine among the three groups (P<0.05). Logistic regression analysis found that less frequency of stools after taking medicine, the last stool property (mushy stool, dark yellow or brown with residue or light yellow water), no exercise during taking laxatives and not taking laxatives completely were independent factors reducing the cleanliness of bowel preparation (P<0.05). Conclusions　In order to improve the quality of bowel preparation, it is necessary to identify the relevant factors that affect the quality of bowel preparation in early stage and take corresponding interventions in time.

Clinical analysis of aspiration pneumonia in 164 children

XIONG Limei, CHEN Wencong, DAI Jihong

Journal of Clinical Pediatrics. 2020, 38(6): 443. doi:10.3969/j.issn.1000-3606.2020.06.010

Abstract ( 397 )

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　Objective　To explore the clinical characteristics and diagnosis of children's aspiration pneumonia. Method The clinical data of aspiration pneumonia in 164 hospitalized children from January 1, 2013 to December 31, 2018 were retrospectively analyzed. Results　In 164 patients (103 boys and 61 girls) with the age at onset ranging from 29 days to 13 years, 124 patients (75.6%) were under 6 years old. Thirty-four children had underlying diseases and neurological abnormalities were the most common (27 cases). The history of inhalation was found in 141 (86.0%) children and drowning was the most common cause. There was no definite inhalation history in 23 children (14.0%), but all of them had neurological abnormalities or congenital upper airway/digestive tract abnormalities. The common clinical symptoms were cough, shortness of breath, fever and disturbance of consciousness. Only 79 cases (48.2%) had respiratory symptoms and lung rales simultaneously. Chest radiograph or chest CT examination in 160 cases indicated pneumonia, and 142 cases showed bilateral lung involvement, mainly middle and lower lung lobes. A total of 127 (77.4%) children were examined for pathogenic bacteria, and 64 strains were gram-negative bacteria and 24 strains were gram-positive bacteria. The common bacteria were Escherichia coli (17 strains), Streptococcus pneumoniae (17 strains) and Haemophilus influenza (9 strains). All patients treated by antibiotics and 142 recovered and 22 had poor prognosis. Conclusions　The clinical manifestations of aspiration pneumonia in children are complex, and the history of inhalation, inhalation risk assessment, and lung imaging are helpful for the diagnosis. Etiological examination is helpful for rational use of drugs.

Diagnosis and treatment of severe adenovirus infection with hemophagocytic syndrome in 7 cases

PENG Yanhui, DUAN Zhi, YANG Rui, et al

Journal of Clinical Pediatrics. 2020, 38(6): 447. doi:10.3969/j.issn.1000-3606.2020.06.011

Abstract ( 525 )

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Objective　To explore the clinical characteristics and prognosis of severe adenovirus infection with hemophagocytic lymphohistiocytosis (HLH). Method　The clinical data of severe adenovirus infection combined with HLH in 7 children from January 2018 to December 2019 were collected and analyzed. Results　Among the 7 cases (4 males and 3 females) aged from 3 months to 16 months, the nasopharyngeal swabs and bronchoalveolar lavage fluid were positive multiple times for respiratory adenovirus antigens in the early stage of admission. All the 7 children had cough, high fever, and mild to moderate hepatosplenomegaly. Four had respiratory failure. Two had subcutaneous emphysema and mediastinal emphysema. All of the children were diagnosed with severe pneumonia. Two cases were diagnosed with HLH within one week of admission. Four cases were diagnosed with HLH within 7~14 days of admission and one case was diagnosed with HLH within 26 days of admission. Conclusions　Severe adenovirus infections are more common in infants and children under 2 years of age. If the child has fever for more than 1 week, that pancytopenia, varying degrees of albumin decrease, ferritin increase, lactate dehydrogenase increase, and liver enzyme increase occur at the same time, is positive indicators for early detection of severe adenovirus infection with HLH.

Pantothenate kinase-associated neurodegeneration: two cases report and literature review

DU Xianghui, GUO Hu, HE Yan, et al

Journal of Clinical Pediatrics. 2020, 38(6): 452. doi:10.3969/j.issn.1000-3606.2020.06.012

Abstract ( 508 )

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Objective　To explore the clinical and genetic characteristics of pantothenate kinase-associated neurodegeneration (PKAN). Methods　The clinical data and gene detection results of PKAN in two children were analyzed. The key words of "Hallervorden spalz", "brain iron deposition", "NBIA", "PKAN" and " PANK2" were used to search in PubMed, HGMD, CNKI and Wanfang databases up to March 2019 for literature review. Results　Both cases were boys. Case 1 was a 7-year- and 2-month-old boy and suffered from increased muscle tension for more than 3 years and aggravated for 2 weeks. The brain MRI showed globus pallidus lesion. The whole exon gene detection found a heterozygous variation of C.515-527del, C.644-645delGAinsAT in the PANK2 gene, and the mother carried a heterozygous pathogenic variation, and the father carried a suspected heterozygous pathogenic variation. Case 2 was a 14-year and 9-month-old boy and had unsteady walking for 8 years and aggravated for 1 year. The homozygous variation of c.397A>G (p.Met133Val) in PANK2 gene was found by whole exon gene detection, and the heterozygous mutation was found in the mother, but no mutation was detected in the father. Conclusion Both heterozygous and homozygous mutations of PANK2 gene can cause the disease.

Valproate induced hyperammonemic encephalopathy: a case report and literature review

ZHAO Jinhua, TANG Jihong, XIAO Xiao, et al

Journal of Clinical Pediatrics. 2020, 38(6): 456. doi:10.3969/j.issn.1000-3606.2020.06.013

Abstract ( 490 )

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　Objective　To explore the clinical characteristics, diagnosis and treatment of valproate inducedhyperammonemic encephalopathy (VHE) in children. Method　The clinical data of VHE developed in a child with Dravet syndrome treated by valproate were analyzed retrospectively. Results　A 6-year- and 2-month-old girl was diagnosed with Dravet syndrome at the age of 10 months. She received long-term oral administration of valproate and topiramate. The child visited for convulsive seizures this time, accompanied by consciousness disorders, significantly increased blood ammonia, abnormal liver function and severe brain impairment. Electroencephalogram showed low voltage. Cerebral magnetic resonance imaging showed diffuse edema in the cerebral hemisphere and abnormal signals in bilateral basal ganglia. After the discontinuation of sodium valproate and the treatment for lowering blood ammonia, the blood ammonia decreased, and the state of consciousness was better than before. Conclusion　Clinician should be vigilant of existence of hyperaminemia and VHE in epileptic children treated with valproate, especially in combination with topiramate, and timely treatment is needed to improve the prognosis.

Nervous system involvement in 2q31.1 microdeletion syndrome caused by mutation in LNPK: a case report and literature review

CHEN Jing, TIAN Maoqiang, LI Juan, et al

Journal of Clinical Pediatrics. 2020, 38(6): 459. doi:10.3969/j.issn.1000-3606.2020.06.014

Abstract ( 819 )

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Objective To improve the understanding of genotype and phenotype of 2q31.1 microdeletion syndrome. Method　The clinical data of 2q31.1 microdeletion syndrome in a child were analyzed, and the relevant literature was reviewed. Results　An 11-month-old girl had global developmental delay and convulsions for 2 times since birth. She presented with special faces, deformity of extremities, decreased muscle tension of limbs, deformity of toes and fingers. MRI of the brain showed dysplasia of the corpus callosum. The microdeletions of 7.279 Mb in 2q31.1-2q31.3 region: arr 2q31.1q31.3 (174570453-181849708) ×1 were confirmed by chromosome chip detection and comparative genomic hybridization (array CGH). The child was diagnosed with 2q31.1 microdeletion syndrome finally. It has been reported that the haploinsufficiency of HOXO gene cluster and its regulatory sequence in 2q31.1 microdeletion syndrome leads to limb deformity. The loss-of-function mutations of LNPK result in neurodevelopmental disorders with convulsive seizures and corpus callosum hypoplasia, characterized by psychomotor retardation, mental retardation, hypotonia, convulsive seizures and corpus callosum hypoplasia. The neurological involvement of this child is similar to the phenotype of LNPK single gene mutation. Thus, it is speculated that the neurological involvement of the child may be caused by haploinsufficiency of LNPK. Conclusion　It is necessary to be aware of 2q31.1 microdeletion syndrome in patients with global developmental delay and limb deformity.

Chromosome 6p25 deletion syndrome: a case report and literature review

PAN Xiang, LU Jun, LI Guangxu, et al

Journal of Clinical Pediatrics. 2020, 38(6): 463. doi:10.3969/j.issn.1000-3606.2020.06.015

Abstract ( 1311 )

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Objective　To explore the clinical characteristics of chromosome 6p25 deficiency syndrome. Method The clinical data of chromosome 6p25 deficiency syndrome in 1 child were retrospectively analyzed and the relevant literature was reviewed. Results　The boy, aged 2 years and 9 months old, presented with language retardation, recurrent respiratory infections, special facial features and hypoplasia of teeth. Ophthalmoscopy revealed changes of AxenfeldRieger syndrome in the anterior segment. Cranial MR suggested right temporal pole arachnoid cyst, dysplasia of corpus callosum, and third and fourth ventricle dilatation. The hearing test was normal, and the brainstem auditory evoked potential indicated poor bilateral waveform differentiation. Genetic testing revealed a heterozygosis deletion of 2.833Mb in the region p25.3-p25.2 of chromosome 6 (chr6:393140-3226909) in the child, so he was diagnosed with chromosome 6p25 deletion syndrome. No case report of chromosome 6p25 deletion syndrome in children was found in the Chinese database. Conclusion　The clinical manifestations of chromosome 6p25 deletion syndrome are diverse, and the main pathogenic genes are FOXC1, SERPINB6, TUBB2A, TUBB2B, and so on.

Kabuki syndrome caused by a new mutation of KMT2D gene: a case report

YANG Guihua, SUN Yanfang, LI Huiyuan, et al

Journal of Clinical Pediatrics. 2020, 38(6): 467. doi:10.3969/j.issn.1000-3606.2020.06.016

Abstract ( 1045 )

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Objective　To explore the genetic mutation in Kabuki syndrome and the correlation between genotype and phenotype. Methods　The clinical data of Kabuki syndrome in one proband were collected, and the suspected Kabuki syndrome was diagnosed by high-throughput gene sequencing, biological information analysis, database screening and other methods. Results　A 10-year-old boy had slow response since birth, recurrent otitis media, and special facial features (long palpebral fissure extending laterally, eversion of the lateral third of the lower eyelid, arched eyebrows with lateral 1/3 sparse eyebrows, flat nasal tip, short septum of nose, large and prominent ears, abnormal eruption and arrangement of teeth, and micrognathia). The child had abnormal renal function with progressive aggravation. Genetic analysis confirmed that there was a heterozygous variation of c.8214dupC (p.Phe2739fs) in the KMT2D gene of the child, which has not been reported in the literature. No variation was found in this locus in the parents, and it was a new mutation. According to the American College of Medical Genetics and Genomics (ACMG) guidelines, the comprehensive analysis of this variation revealed that it is consistent with "pathogenic". Conclusions　High throughput sequencing and bioinformatics analysis are helpful for the diagnosis of Kabuki syndrome. A new mutation in KMT2D gene was found, which had not been reported before.

X-linked recessive Charcot-Marie-Tooth disease type 5: a case report and literature review

XU Min, XIA Jingyi, GUO Hu

Journal of Clinical Pediatrics. 2020, 38(6): 472. doi:10.3969/j.issn.1000-3606.2020.06.017

Abstract ( 545 )

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Objective　To explore the phenotype and genotype characteristics of X-linked recessive Charcot-Marie-Tooth disease type 5 (CMTX5). Method　The clinical data of CMTX5 in a child were retrospectively analyzed and relevant literature was reviewed. Results　A boy suffered from hearing loss since childhood. At the age of 6, the child presented with walking weakness and abnormal gait with progressive aggravation. Electromyography suggested multiple peripheral neurogenic lesions, mainly involving sensory and motor axons with demyelination. Gene sequencing indicated that there was a hemizygous variation of c.344T> C in the PRPS1 gene, and the same site had a heterozygous mutation in his mother while his father's was normal. The heterotopia has been reported in the past, but difference from the previously reported phenotype is that there is no visual impairment in the child. Eight CMTX5 patients with 8 genotypes were retrieved in the literature and all were missense mutations. All 8 patients had hearing loss and peripheral neuropathy, and 4 had visual impairment. Conclusion　Even patients with the same genotype of CMTX5 have different clinical phenotypes. The phenotypic-genotype correlation requires further studies with large sample size.

Progress of fiberoptic bronchoscopy in diagnosis and treatment of pulmonary infectious diseases in children

　WANG Lijun, XU Shanshan, LI Huajun, et al

Journal of Clinical Pediatrics. 2020, 38(6): 475. doi:10.3969/j.issn.1000-3606.2020.06.018

Abstract ( 535 )

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For more than 40 years, fiberoptic bronchoscopy has been widely used in the diagnosis and treatment of children's lung diseases. With the development of clinical research and the improvement of new pathogen detection technology, the role of fiberbronchoscope in the diagnosis of children's pulmonary infectious diseases has been further recognized. Its application has been included in a number of guidelines for diagnosis of special infections including pulmonary fungal infection, ventilator associated pneumonia, recurrent pneumonia, as well as in special population such as immunocompromised patients. Considerable progress has been made in foreign body removal and endoscopic surgery during the treatment, but the effectiveness of the treatment of infection-related lung polyps and atelectasis in children is still controversial. A new understanding of the value of fiberoptic bronchoscopy in children with pulmonary infectious diseases is conducive to the standardized diagnosis and treatment of children with pulmonary infectious diseases.

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