Journal of Clinical Pediatrics

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Journal of Clinical Pediatrics. 2021, 39(12): 880. doi:10.3969/j.issn.1000-3606.2021.12.000

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Correlation of subclinical acute kidney injury with adverse outcomes in critically ill neonates

HUANG Hui, DAI Xiaomei, WANG Sanfeng, et al

Journal of Clinical Pediatrics. 2021, 39(12): 881. doi:10.3969/j.issn.1000-3606.2021.12.001

Abstract ( 305 )

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Objective To investigate whether subclinical acute kidney injury (AKI) based on urinary cystatin C (uCys C) is associated with adverse outcomes in critically ill neonates. Methods Critically ill neonates admitted to the neonatal intensive care unit (NICU) from July to October 2016 were selected as the study subjects. The levels of uCys C were detected within 1 week after NICU admission. The optimal peak uCys C cutoff value of the ROC curve for predicting mortality was used to determine the presence of tubular injury. The presence of renal tubule injury without AKI （uCys C(+)/AKI(?)） was defined as subclinical AKI. Neonates were divided into death group and survival group according to whether they died during hospitalization. According to the presence or absence of tubular damage and/or AKI, neonates were divided into four groups. The clinical characteristics of neonates in different groups were compared. Results A total of 246 critically ill neonates (136 boys and 110 girls) were included, with a median age of 1.0 (1.0-2.0) d. Among them, 30 neonates developed AKI within one week of admission to the NICU and 24 neonates died during their stay in the NICU. Binary logistic regression analysis showed that the levels of first and maximum uCys C were independent risk factors for neonatal death after adjusting for confounding factors (P<0.05). According to ROC curve results, 82 neonates (33.3%) developed subclinical AKI, with the maximum uCys C level >1558 ng/mg as the presence of renal tubular injury. The score for neonatal acute physiology (SNAP) of neonates in the subclinical AKI group was higher than that in the uCys C(?)/AKI(?) group, but lower than that in the uCys C(+)/AKI(+) group. The length of NICU stay in the subclinical AKI group was longer than that in the uCys C(?)/AKI(?) and uCys C(?)/AKI(+) groups, and the differences were statistically significant. Conclusions Subclinical AKI is associated with adverse outcomes of critically ill neonates.

The clinical analysis of urinary cell cycle arrest biomarkers in neonatal acute kidney injury after severe asphyxia

YAN Chongbing, MA Li, ZHANG Xiaoyue, et al

Journal of Clinical Pediatrics. 2021, 39(12): 886. doi:10.3969/j.issn.1000-3606.2021.12.002

Abstract ( 242 )

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Objective To investigate the dynamic change and clinical value of urinary cell cycle arrest biomarkers, tissue inhibitor of metalloproteinases- 2 (TIMP- 2 ) and insulin-like growth factor-binding protein 7 (IGFBP 7 ), in neonatal acute kidney injury (AKI) patients after severe asphyxia. Methods A total of 51 neonates with severe asphyxia who were hospitalized within 6 hours after birth from January 2019 to June 2020 were included. They were divided into AKI group and non-AKI group based on the diagnostic criteria of neonatal AKI enacted by kidney disease improving global outcome (KDIGO). Dynamic changes of levels of urinary cell cycle arrest biomarkers (TIMP- 2 and IGFBP 7 ) and serum creatinine were observed at the time of admission, 24 h, 48 h and 1 week after birth. The receiver operating characteristic (ROC) curve was used to analyze the clinical significance of urine IGFBP 7×TIMP- 2 in the diagnosis of AKI in neonates with asphyxia. Results The mean gestational age was ( 38 . 34±1 . 71 ) weeks, and the birth weight was ( 3130 . 6±460 . 2 ) g. There were 9 neonates in AKI group and 42 neonates in non-AKI group, and the incidence of AKI was 17 . 65 %. Compared with the non-AKI group, urine TIMP- 2 concentration in the AKI group was significantly increased at admission and 24h after birth, and urine IGFBP7 concentration was increased at admission, and the differences were statistically significant (P< 0 . 05 ). Urine IGFBP 7× TIMP- 2 in AKI group was significantly higher than that in non-AKI group at admission and 24 h after birth, and the difference was statistically significant (P<0.05). ROC curve was used to analyze the diagnostic value of urine IGFBP7×TIMP- 2 for AKI in neonates with severe asphyxia at admission and 24h after birth, and its AUC was 0.905 (95%CI: 0.820~0.990) and 0.729 (95%CI: 0.482~0.977), respectively. Conclusions Urine cell cycle arrest marker IGFBP 7×TIMP- 2 was significantly increased in the early postnatal period of severe asphyxia neonates, which may contribute to the early identification of AKI. Whether it can be used as a novel biomarker for early diagnosis of AKI needs further validation.

Analysis of related factors of neonatal catheter-related urinary tract infection

XIE Zhaoyun, LI Wenhua, MENG Guiluan, et al

Journal of Clinical Pediatrics. 2021, 39(12): 891. doi:10.3969/j.issn.1000-3606.2021.12.003

Abstract ( 295 )

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Objective To analyze the influence factors of neonatal catheter-associated urinary tract infection (CAUTIs). Methods The clinical data of neonates with indwelling catheterization from January 2012 to February 2021 were retrospectively analyzed. According to the occurrence of CAUTIs, they were divided into CAUTIs group and non CAUTIs group and the influence factors of CAUTIs were analyzed. Results The CAUTIs occurred in 63 (17.4%) of 362 neonates. There were 38 boys and 25 girls with gestational age of 37 ( 36 - 40 ) weeks and birth weight of ( 2 . 82 ±0 . 79 ) kg. Binary logistic regression analysis showed that time and frequency of indwelling catheter were independent risk factors for CAUTIs (P

Characteristics of dynamic blood pressure and its correlation with clinical and pathological features in children with Henoch- Schönlein purpura nephritis

YING Bei, LI Yuhong, SHAO Xiaoshan, et al

Journal of Clinical Pediatrics. 2021, 39(12): 895. doi:10.3969/j.issn.1000-3606.2021.12.004

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Objective To observe the effects of different pathological grades and renal impairment on circadian rhythm changes of blood pressure, especially nocturnal blood pressure in children with Henoch-Sch?nlein purpura nephritis (HSPN). Methods The clinical data of 121 children with HSPN diagnosed by renal biopsy were retrospectively analyzed, and the variation characteristics of 24 -hour ambulatory blood pressure were observed. According to the pathology classification of renal biopsy, the children were divided into gradeⅠ-Ⅱand grade Ⅲ-Ⅵ groups. According to the estimated glomerular filtration rate (eGFR), the children were divided into eGFR < 60 mL/(min· 1 . 73 m2 ) group and eGFR ≥60 mL/(min· 1 . 73 m2 ) group. The differences of ambulatory blood pressure levels and clinical indicators among different groups were compared. Results Among the 121 children with HSPN, there were 68 boys and 53 girls, with an average age of ( 8 . 8 ± 2 . 3 ) years. There were 105 cases ( 86 . 8 %) with abnormal blood pressure rhythms, and the incidence of hypertension was 31 . 4 %. The incidence of nocturnal hypertension was significantly higher than that of daytime hypertension (P<0.05). Compared with eGFR ≥60 mL/(min·1.73m2 ) group, 24 h mean systolic and diastolic blood pressure, daytime mean systolic and diastolic blood pressure, night mean systolic and diastolic blood pressure, 24 h urine protein quantity and blood creatinine were significantly increased, and gross hematuria duration was prolonged in eGFR<60 mL/(min·1.73m2) group, with statistical significance (P< 0 . 05 ). Conclusions The incidence of abnormal blood pressure of children with HSPN is high, and mainly characterized by the increased blood pressure at nighttime. The more severe the degree of renal damage in children with HSPN, the higher the nocturnal blood pressure, the more severe the proteinuria, and the longer the gross hematuria duration.

Clinical and genetic analysis of 21 children with primary distal renal tubular acidosis

ZHANG Lining, KUANG Xinyu, SUN Lei, et al

Journal of Clinical Pediatrics. 2021, 39(12): 900. doi:10.3969/j.issn.1000-3606.2021.12.005

Abstract ( 336 )

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Objective To investigate the clinical characteristics and gene diagnosis of primary distal renal tubular acidosis (dRTA) in children. Methods The clinical data and genetic test results of 21 patients with primary dRTA were retrospectively analyzed. Results Among the 21 children, there were 12 boys and 9 girls. The median onset age was 9 (2~24) months and the median diagnosis age was 31 (24~54) months. The main clinical features were growth retardation, polyuria, feeding difficulties, fatigue and repeated urinary tract infection. All the children had medullary calcareous deposition, and 9 cases (42.8%) had renal cystic disease, including 3 cases with medullary sponge kidney. There were 12 cases of proteinuria, including 8 cases of renal tubular proteinuria, 3 cases of mixed proteinuria and 1 case of glomerular proteinuria. After acidosis was corrected, only one case of glomerular proteinuria persisted, and the rest returned to normal. All children were given sodium citrate and potassium citrate solution orally. The median follow-up time was 45 (28 ~ 61) months. By the time of the last follow-up, all the children's metabolic disorders were corrected and 1 child developed stage 2 chronic renal insufficiency. Total exon sequencing was performed in 10 children, gene variation was detected in 6 children, and no clinical report was found in case 4, 5 and 6. Case 4 was a compound heterozygous mutation of ATP 6 V 1 B 1 c. 687 G> A, c. 1397 C>A (p.P 229 G, p.S 466 X); Case 5 was a compound heterozygous mutation of ATP6V1B1 c.232G >A, c.1354 del (p.G78R, p.F452fs), and case 6 was a compound heterozygous mutation of ATP6V0A4 c.1376C>T, c.1029 + 5G>A (p.S459P). Conclusion In this study, three new compound heterozygous mutations were found, which extended the gene mutation spectrum. Genetic testing is helpful for diagnosis and genetic counseling.

Chronic kidney disease due to variation of PAX2 gene: report of two cases and literature review

SUN Xiaopeng, LIN Yi, NIE Nana, et al

Journal of Clinical Pediatrics. 2021, 39(12): 905. doi:10.3969/j.issn.1000-3606.2021.12.006

Abstract ( 1185 )

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Objective To investigate the clinical manifestation and genetic features of children with chronic renal disease caused by PAX 2 gene variation. Methods The clinical data and genetic test results of 2 children with chronic kidney disease caused by PAX 2 gene variation and their family members were retrospectively analyzed. Relevant literatures were searched and reviewed in PubMed database, China national knowledge infrastructure and Wanfang data knowledge service platform. Results Proteinuria and decreased renal function were observed in 1 boy and 1 girl. Case 1 was in stage Ⅱ of CKD, and case 2 was in stage Ⅲ-Ⅳ of CKD. Both of the 2 children carried pathogenic variations of PAX2 gene through genetic testing. A total of 32 CKD children caused by PAX2 gene variation were retrieved from database, presenting with renal dysplasia, proteinuria, and extra-renal manifestations such as optic nerve defects. Some of the children eventually progressed to end-stage renal disease. Conclusions PAX 2 gene variation associated kidney disease is a rare genetic disease with a variety of clinical phenotypes. Patients with the same variation site may have significant differences in their clinical phenotypes. Gene sequencing is helpful for early diagnosis, and early symptomatic supportive treatment can delay kidney function impairment.

Infantile cystinosis (nephropathy): a case report and literature review

CUI Jieyuan, GE Lanlan, ZHANG Dongfeng, et al

Journal of Clinical Pediatrics. 2021, 39(12): 909. doi:10.3969/j.issn.1000-3606.2021.12.007

Abstract ( 328 )

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Objective To summarize the clinical characteristics of a case of infantile cystinosis in order to improve clinicians' understanding of the disease. Method The clinical features of one case of infantile cystinosis were retrospectively analyzed. Results A 2 -year-old boy was admitted to hospital due to growth retardation in height for more than 1 year and weakness of lower extremities for 3 months. The boy presented with physical development retardation, lower extremities weakness, rickets, metabolic acidosis, hypophosphatemia, glycosuria, ketonuria, aminoaciduria, low-molecular-weight proteinuria and hypercalciuria. Genetic variation analysis showed complex heterozygous variation of CTNS gene. One was a splicing variation of c.140 +1G>C from the father, and the other was a missense variation of c.969C>G (p.N323K) from the mother, and the child was diagnosed as cystinosis (infantile type). Conclusions Infantile cystinosis is more common in infant, and the first clinical manifestations are mainly physical retardation and abnormal urine examination. Clinically, it was often misdiagnosed as Fanconi syndrome.

Congenital nephrogenic diabetes insipidus caused by AVPR2 gene variation complicated with urinary tract dilatation and growth retardation: a case report

ZHAO Ling, LIU Xiaojing

Journal of Clinical Pediatrics. 2021, 39(12): 912. doi:10.3969/j.issn.1000-3606.2021.12.008

Abstract ( 328 )

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Objective To investigate the clinical manifestations of a case of congenital nephrogenic diabetes insipidus (CNDI) caused by AVPR2 gene variation with urinary tract dilatation and growth hormone deficiency. Methods The clinical data of a child with CNDI with urinary tract dilation and growth hormone deficiency and the results of genetic testing in his family were retrospectively analyzed. Results A boy, aged 10 years and 11 months, presented with polydipsia, polyuria and growth retardation since childhood. The boy was diagnosed with nephrogenic diabetes insipidus, urinary tract dilatation, and growth hormone deficiency through growth hormone stimulation tests and related examinations. Gene test showed that the missense variation of C.347 (exon2) A>T (P.k116m) in the second exon of AVPR2 gene was a new variant, which was not detected in the peripheral blood of the child's parents and elder brother, and the child was diagnosed as CNDI. Conclusion The main pathogenic gene of CNDI is AVPR2 gene, and CNDI can be developed with urinary tract dilation and short stature.

Recurrence risk of MOG antibody disease in children

YANG Sai, LIAO Hongmei, WU Liwen, et al

Journal of Clinical Pediatrics. 2021, 39(12): 916. doi:10.3969/j.issn.1000-3606.2021.12.009

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Objective To analyze the risk factors for recurrence of MOG antibody disease (MOG-AD) in children, and to provide scientific basis for clinical prediction of disease recurrence. Methods The clinical data of 71 children with positive MOG antibody and central nervous system (CNS) acute demyelinating syndromes (ADS) developed for the first time from January 2016 to June 2020 were collected. The follow-up period ranged from 6 months to 4 years. The clinical data, laboratory examination and imaging characteristics, treatment and follow-up results of recurrent and nonrecurrent groups were compared. Results Among the 71 children, 29 were boys and 42 were girls, with a median age of 6.3 (4.4~9.0) years. The clinical characteristics of first episode were fever (35 cases), hemiplegia (28 cases), myelitis (28 cases), encephalopathy ( 27 cases), headache ( 22 cases), epilepsy ( 20 cases) and optic neuritis (ON, 18 cases). Brain MRI showed multiple intracranial lesions involving subcortical, white matter, basal ganglia, optic nerve and other parts of the brain. MRI of spinal cord showed abnormalities in 35 cases, presenting as single-segment and multi-segment spinal cord lesion or total myelopathy. The median follow-up was 36 ( 18 ~ 48 ) months. There were 26 recurrent children ( 36 . 62 %), including 8 boys and 18 girls, with a median age of 6 . 0 ( 4 . 0 ~ 9 . 0 ) years. The most common clinical diagnosis was acute diffuse encephalomyelitis ( 34 cases), followed by ON ( 18 cases). Binary logistic regression analysis found that first episode characterized by ON, the presence of prodromal respiratory tract infection, and intravenous methylprednisolone (IVMP) alone in the first treatment were independent risk factors for relapse (P< 0.05). Conclusions The clinical phenotypes of MOG-AD in children are diverse. The first episode characterized by ON, the presence of prodromal respiratory tract infection, and IVMP alone in the first treatment were important predictors of recurrence.

The effect of recombinant human growth hormone replacement therapy on the level of asymmetric dimethylarginine in short stature children

LIANG Yi, LIU Jing, LENG Lina, et al

Journal of Clinical Pediatrics. 2021, 39(12): 923. doi:10.3969/j.issn.1000-3606.2021.12.010

Abstract ( 192 )

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Objective To analyze the changes of serum asymmetric dimethylarginine (ADMA) levels before and after recombinant human growth hormone (rhGH) treatment in short stature children. Methods A total of 63 short children with growth hormone deficiency (GHD) or idiopathic short stature (ISS) and 27 healthy controls were selected as subjects. The ADMA level, height standard deviation score (HtSDS), blood lipid, glucose metabolism parameters, atherogenic index (Ai), homeostatic model assessment for insulin resistance index (HOMA-IR), quantitative insulin sensitivity check index (QUICKI) and other indexes before treatment were observed. They were compared with the indexes 6 and 12 months after rhGH treatment as well as those of healthy children. Results There were 30 children in GHD group, 33 children in ISS group and 27 children in control group. Before treatment, The LDL-C and ADMA levels in GHD group were significantly higher than those in control group (P<0.05). The level of Ai in GHD and ISS groups was higher than that in control group, while the level of IGF-1 was lower than that in control group, the differences were statistically significant (P<0.05). After 6 and 12 months of rhGH treatment, the levels of HtSDS and IGF-1 in children with GHD and ISS were higher than those before treatment, and the differences were statistically significant (P before treatment (P<0.05). The ADMA level of ISS children 12 months after treatment was lower than that before and 6 months after treatment, and the differences were statistically significant (P<0 . 05 ). Conclusions The level of ADMA in children with GHD is significantly higher than that in healthy children, suggesting that the risk of atherosclerotic cardiovascular disease is increased in children with short stature, especially in children with GHD. The rhGH replacement therapy for 12 months can effectively reduce ADMA level and improve lipid profile in short stature children, which may reduce the risk of atherosclerotic cardiovascular disease to a certain extent.

Autoinflammatory diseases in children with recurrent abdominal pain as the main manifestation: a report of two cases and literature review

ZHAO Xueqi, LYU Jiajia, YU Yi, et al

Journal of Clinical Pediatrics. 2021, 39(12): 929. doi:10.3969/j.issn.1000-3606.2021.12.011

Abstract ( 524 )

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Objective To explore the clinical characteristics of autoinflammatory diseases (AUIDs) in children with recurrent abdominal pain. Methods The clinical data of autoinflammatory disease in 2 children with recurrent abdominal pain were retrospectively analyzed and the relevant literatures were reviewed. Results Both patients presented with recurrent abdominal pain. Case 1 was a boy with the onset age of 6 . 5 years. The child had been diagnosed with appendicitis and still had recurrent abdominal pain after surgical resection. Conventional anti-infection treatment was not effective. Idiopathic chronic colitis and erosive gastritis were later diagnosed, and the onset of abdominal pain could be controlled with hormone therapy. Whole-exome sequencing (WES) was applied and a new heterozygous variation of the TNFAIP 3 gene was found in Case 1 . Thereafter, he was diagnosed with haploinsufficiency of A 20 (HA 20 ). Case 2 was a girl with the onset age of 2 years and 9 months. Her peripheral blood white blood cell count and C-reactive protein were elevated. She had received conventional antiinfection treatment in a local hospital for 5 months, but the effect was not satisfactory. The patient was subsequently diagnosed with autoimmune bowel disease, and recurrent abdominal pain occurred after oral treatment with prednisone. A heterozygous variation in the MEFV gene was found through WES, and she was diagnosed with familial Mediterranean fever (FMF). After searching in the databases, 11 articles and 45 cases ( 11 of HA 20 and 34 of FMF) were reported in China in patients younger than 18 years old. The median onset age of HA20 was 3.3 years and the median onset age of FMF was 5.7 years. About 25% patients presented with recurrent abdominal pain. Conclusions For children with long course of disease and recurrent abdominal pain accompanied by significantly increased inflammatory cytokines, autoinflammatory diseases should be considered. The gene testing and appropriate treatment should be provided.

Salmonella meningitis in children: a report of three cases and literature review

ZHAO Jingli, HUA Chunzhen, ZHOU Mingming, et al

Journal of Clinical Pediatrics. 2021, 39(12): 934. doi:10.3969/j.issn.1000-3606.2021.12.012

Abstract ( 259 )

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Objective To investigate the clinical characteristics of Salmonella meningitis in children. Methods The clinical data of children with Salmonella positive in cerebrospinal fluid (CSF) culture from 2007 to 2019 were collected, and the relevant literatures were reviewed. Results All patients were female, aged 1 day to 1 year and 2 months, and had no history of unclean diet. The onset symptom of 2 cases was fever, 1 case had watery stools with a little mucous in the course of disease, and 1 case had convulsions. Bilateral Babinski signs were positive in 2 patients and cervical resistance and anterior fontanelle swelling was found in one patient. The WBC in peripheral blood was ( 20 . 1 ~ 25 . 2 ) × 109 /L, and the neutrophil count was ( 15 . 4 ~ 19 . 7 ) × 109 /L. The WBC in CSF was ( 70 ~ 1473 ) × 106 /L, the sugar concentration ranged from 0 . 18 to 3 . 19 mmol/L, and the protein level ranged from 598 . 1 to 6639 . 0 mg/L. Three isolates of Salmonella were detected in CSF cultures, including Salmonella newport, Salmonella paratyphi, and Salmonella typhimurium (one case per each). All strains were sensitive to ceftriaxone, ceftazidime, cefoperazone / sulbactam, meropenem, and imipenem, while one strain was resistant to ampicillin. The blood cultures were all negative. All patients were treated with carbapenems after failed therapies of cefotaxime or ceftriaxone, for a total duration of 3 - 5 weeks. Two patients improved, 1 patient died, and subdural effusion occurred in 1 survivor. Conclusion Salmonella meningitis was rare, but the clinical conditions were serious. Carbapenems might be the first choice for treating Salmonella meningitis.

Anti-N-methyl-D-aspartate-receptor encephalitis with rhabdomyolysis in children

HOU Chi, LI Xiaojing, TIAN Yang, et al

Journal of Clinical Pediatrics. 2021, 39(12): 938. doi:10.3969/j.issn.1000-3606.2021.12.013

Abstract ( 208 )

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To explore the clinical features and prognosis of children with anti-N-methyl-D-aspartatereceptor (NMDAR) encephalitis complicated with rhabdomyolysis (RM). Methods The clinical data of 4 children with anti-NMDAR encephalitis complicated with RM were retrospectively analyzed. Results There were 3 boys and 1 girl with an average onset age of ( 9 . 3 ±4 . 3 ) years. The median time between onset symptom and diagnosis of anti-NMDAR encephalitis was 14 ( 10 - 20 ) days, and the median time between onset symptom and development of RM was 29 ( 22 - 40 ) days. The causes of RM included infection and status epilepticus ( 3 cases), and persistent involuntary movement ( 1 case). One patient recovered well after receiving steroid and intravenous immunoglobulin treatment and hydration and alkalization therapy. The other 3 patients with complicated infection and status epilepticus had poor response to the treatment and received plasma exchange and continuous hemofiltration. One died of septic shock, and 2 received rituximab treatment. One recovered well, while the other one had severe neurological sequelae. Conclusion Children with anti-NMDAR encephalitis can be complicated with RM. Patients in critical condition may have poor response to first-line immunotherapy and hydration and alkalization therapy, and blood purification therapy should be initiated in time.

Pulmonary sparganosis in children: a case report and literature review

XU Yanwen, CAI Kang, LI Huajun, et al

Journal of Clinical Pediatrics. 2021, 39(12): 941. doi:10.3969/j.issn.1000-3606.2021.12.014

Abstract ( 303 )

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Objective To investigate the clinical manifestations, diagnosis and treatment of pulmonary sparganosis in children. Methods The clinical data of pulmonary sparganosis in a child were retrospectively analyzed. Results A 13 -year-old girl presented with cough for twenty days, concomitantly with chest discomfort and shortness of breath after activities. Anti-infective therapy was ineffective. Pulmonary imaging showed pleural effusion and a large cavity in the middle lobe of the right lung with a distinctive parasite body shadow. The diagnosis of pulmonary sparganosis was confirmed by the next-generation sequencing. The patient was discharged after surgery combined with praziquantel deinsectization, and no abnormality was observed during follow-up. Conclusion Pulmonary sparganosis is a clinically rare condition. For patients suspected of having lung parasitic infection, detailed inquiry of epidemiological history, screening of routine serum parasite antibodies and pulmonary CT examination should be done for early diagnosis. Further, pathological biopsy and gene sequencing can be performed when the diagnosis is still unclear.

Neurofibromatosis type Ⅰ presenting with recurrent headache: a case report

XU Huan, TANG Jihong, XIAO Xiao, et al

Journal of Clinical Pediatrics. 2021, 39(12): 944. doi:10.3969/j.issn.1000-3606.2021.12.015

Abstract ( 275 )

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Objective To explore the clinical characteristics of neurofibromatosis type Ⅰ(NF1). Methods The clinical data of NF 1 in a child with headache as the main clinical presentation were analyzed, and the relevant literatures were reviewed. Results An aged 10 years and 1 month old boy was admitted to the hospital due to intermittent headache for one year. The physical examination showed several café-au-lait macules and tenderness positive multiple sclerosis on the body. MRI of skull and whole spine showed iso-T 1 , long T 2 and FLAIR sequence high signal in bilateral basal ganglia, brachial plexus and C 2 - 3 intervertebral foramen. A novel frameshift variation of NF 1 (c. 6177 _ 6183 del, p.Leu 2060 Alafs* 4 ) was identified by whole exome sequence. This variation was considered possible pathogenic according to the ACMG guidelines, and the child was diagnosed as NF 1 combined with clinical manifestations and his family history. Conclusions NF 1 is autosomal dominant and has various clinical manifestations. Imaging examination and genetic test can help its diagnosis when the clinical symptoms are atypical. The newly discovered gene variation provides more reference for the related gene variation spectrum of NF 1 .

Rare congenital myopathy caused by ITGA7 gene variation: a case report and literature review

SUN Ying, WANG Chunxia, LI Lei, et al

Journal of Clinical Pediatrics. 2021, 39(12): 948. doi:10.3969/j.issn.1000-3606.2021.12.016

Abstract ( 431 )

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Objective To investigate the clinical characteristics of rare congenital myopathy caused by integrin alpha- 7 (ITGA 7 ) gene variation. Methods The clinical data of a child with congenital myopathy caused by ITGA 7 gene variation was analyzed retrospectively, and the relevant literature were reviewed. Results A 10 years and 9 months old boy developed the disease when he was 5 years old, and the main manifestations were squatting difficulties and mild achilles tendon contracture, without obvious muscle weakness and cognitive impairment, and the disease progressed slowly. Serum creatine kinase was slightly elevated and the electromyography suggested myogenic damage in some muscles. Whole exon sequencing revealed that homozygous frameshift variation of c. 1100 dupG was found in ITGA7 gene, and both parents were heterozygous at this locus. The scores of American College of Medical Genetics and Genomics (ACMG) were PVS 1 , PM 2 and PP 5 , indicating its pathogenicity. Conclusions The myopathy associated with ITGA7 gene variation varies in severity. In mild cases, the progression was slow, and the main manifestations were motor development retardation and abnormal gait. Severe cases have early onset and rapid progression, with muscle weakness as the main manifestation. Serum creatine kinase were only slightly increased or normal in all patients.

Nutritional and immunologically active ingredients in yak milk

HU Rui, YANG Lifei

Journal of Clinical Pediatrics. 2021, 39(12): 952. doi:10.3969/j.issn.1000-3606.2021.12.017

Abstract ( 637 )

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The yak lives in the special environment of the plateau area all year round, making the composition of yak milk different from ordinary cow's milk. Compared with ordinary cow's milk, yak milk contains higher protein, fat, lactose, minerals and other nutrients necessary for the growth and development of infants. In addition, yak milk is rich in immunerelated ingredients, such as immunoglobulins, transforming growth factors, exosomes and so on. This paper reviews the research progress of nutritional and immunologically active ingredients in yak milk.

Continuing Medical Education Advances in researching the relationship between gut microbiota and food allergy in children

JIANG Yan, ZHAN Xue

Journal of Clinical Pediatrics. 2021, 39(12): 956. doi:10.3969/j.issn.1000-3606.2021.12.018

Abstract ( 235 )

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Food allergy prevalence has been rising substantially in recent decades, it has became a global public health problem. Multiple studies suggest that changes in the structure and function of the gut microbiota are closely related to the occurrence of food allergy. Gut microbiota can promote the immune tolerance by regulating immune balance and maintaining the intestinal mucosal barrier function. Now, probiotics, as microecological agents, which can regulate the structure of gut microbiota has received extensive concerns for the application in food allergy. The article reviews the relationship between gut microbiota and food allergy in children, in order to provide new strategies for the prevention and treatment of food allergy in children.

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