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06 January 2025, Volume 40 Issue 1 Previous Issue   

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Expert consensus on individualized dosing of tacrolimus for pediatric glomerular diseases Division of Therapeutic Drug Monitoring, Chinese Pharmacological Society, Guangdong Pharmaceutical Association, Editorial Committee of Chinese Journal of Practical Pediatrics 2025, 40(1): 1-12.  DOI: 10.19538/j.ek2025010601 Abstract ( )   Tacrolimus is a widely used immunosuppressant in the treatment of pediatric glomerular diseases. However，precision dosing presents a challenge due to significant individual differences in pharmacokinetics and pharmacodynamics. Currently， there are no guidelines for individualized dosing of tacrolimus in the treatment of pediatric glomerular diseases， either domestically or internationally. With the aim of assisting physicians and pharmacists in implementing individualized dosing and improving patient satisfaction， the consensus， summarizes the application of tacrolimus in pediatric glomerular diseases， its concentration monitoring， pharmacogenetic testing， and pharmaceutical care based on the latest research advancements and clinical practice experience both domestically and internationally.

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Diagnosis and treatment of urinary tract infections in children GAO Chun-lin 2025, 40(1): 13-20.  DOI: 10.19538/j.ek2025010602 Abstract ( )   Urinary tract infection（UTI）is one of common infectious diseases in children，which refers to the disease with symptoms of urinary tract infection and significant growth of a single type of bacteria in urine culture，and the most common pathogen is Gram's negative intestinal bacteria（E.coli accounts for more than 80%）.UTI includes upper urinary tract infection（pyelonephritis），lower urinary tract infection（cystitis and urethritis）and asymptomatic bacteriuria.The clinical manifestations are age-related，and in infants less than 2 years old，they are not typical and it may be unexplained fever.In physical examination and medical history inquiry， attention should be paid to whether there are risk factors for complicated UTI.The diagnosis can be confirmed if there is significant growth of single bacteria in urine analysis and suitable urine specimen culture. For primary UTI， ultrasonic examination of kidney and bladder is necessary. For recurrent UTI，further imaging examinations should be performed to rule out vesicoureteral reflux（VUR）and CAKUT，and oral antibiotics should be the main treatment.A short course of 3-5 days’ treatment is needed for lower urinary tract infection and a sequential course of treatment is needed for upper urinary tract infection with 7-14 days of intravenoussensitive antibiotics followed by oral treatment.At the same time，it is very important to treat potential vesico-intestinal dysfunction and lower urinary tract dysfunction.Since high-grade VUR is a risk factor for UTI and renal scarring，long-term antibiotic prophylaxis is required.

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Urinary tract infections and congenital anomalies of the kidney and urinary tract in children SHEN Qian 2025, 40(1): 20-25.  DOI: 10.19538/j.ek2025010603 Abstract ( )   Urinary system infection ，also known as urinary tract infection（UTI），is a common disease in children.Congenital anomalies of the kidney and urinary tract（CAKUT）is one of the risk factors for UTI，which may lead to renal scarring in the long term.Children diagnosed with UTI need timely imaging evaluation to make sure whether there is abnormal development of urinary system.Once UTI is confirmed，sensitive antibiotics should be given in time，and prophylactic antibiotics may be needed when there is a high risk of recurrent UTI.In this review，the examination，treatment and preventive measures for UTI children combined with CAKUT were reviewed by referring to and analyzing guidelines，consensuses and clinical evidence on UTI in children，aiming to provide reference for clinical practice.

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Urinary tract infections and vesicoureteral reflux in children WANG Hui, NIU Jia-hui 2025, 40(1): 25-31.  DOI: 10.19538/j.ek2025010604 Abstract ( )   Urinary tract infection（UTI）is one of the most common infections in children，and it is also an outpost event of underlying congenital anomalies of kidney and urinary tract（CAKUT），especially in infants and young children.Vesicoureteral reflux（VUR）is one of the most common CAKUT，which is closely related to the recurrence of UTIand renal parenchymal damage in children.However，there are many controversies on the clinical management of UTI and VUR in children at home and abroad， and there are many problems in clinical practice.Therefore，this article is a review of UTI and VUR in children，aiming to offer help for the future clinical management.

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Bladder and bowel dysfunction and urinary tract infection in children YIN Lu, DU Yue 2025, 40(1): 32-37.  DOI: 10.19538/j.ek2025010605 Abstract ( )   Bladder and bowel dysfunction（BBD）is the risk factor for onset and recurrence of urinary tract infection（UTI）in children.However，lack of understanding of BBD in children with UTI in clinical practice leads to recurrent UTI， and then potential renal scarring.This article summarizes BBD in children with UTI，including definition，morbidity rate，clinical evaluation and management，emphasizing the importance of BBD in UTI to reduce the related complications and sequelae.

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Detection of pathogenic bacteria and antibiotic resistance in children with urinary tract infection ZHANG Li, LI Qing-mei, ZHANG Jin-ping, et al 2025, 40(1): 37-41.  DOI: 10.19538/j.ek2025010606 Abstract ( )   Urinary tract infection （UTI） in children is a common cause of fever and bacteremia in infants and young children， with a tendency to recur. Incomplete treatment may lead to serious consequences. Urine test results are crucial for clinical diagnosis. Urine culture is the gold standard for diagnosing UTI. Standardized methods for collecting urine samples are needed to reduce the possibility of contamination. With the widespread use of antibacterial drugs， the problem of drug resistance has become increasingly prominent， bringing challenges to the treatment of UTI in children. Prevention and control strategies include rational use of antibacterial drugs， strengthening etiological monitoring and drug susceptibility testing， promoting new antibacterial drugs and combination drug regimens， and strengthening public education.

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Progress in diagnosis and treatment of hyperkalemia in infants with urinary tract infection KANG Yu-lin 2025, 40(1): 41-45.  DOI: 10.19538/j.ek2025010607 Abstract ( )   Hyperkalemia is a rare but serious complication of urinary tract infection（UTI）in infants.Its common causes include secondary pseudohypoaldosteronism（PHA）and medication（such as sulfamethoxazole）.Secondary PHA（sPHA）is a complication of UTI which is most often overlooked， and it is more common in children under 6 months old with urinary tract infections or（and）urinary tract malformations. sPHA is more common in boys than in girls.The clinical manifestations are non-specific，including difficulty in feeding，decreased water intake，vomiting，diarrhea and growth retardation，and hypovolemia，seizures and even cardiac arrest may occur in some patients. Laboratory tests reveal hyponatremia，hyperkalemia，metabolic acidosis，reduced urinary potassium，increased urinary sodium，hyperaldosterone and renin activity. sPHA should be differentiated from congenital and acquired aldosteronism（such as congenital adrenal hyperplasia）in clinical practice.Children with PHA secondary to urinary tract infection or（and）malformation have good prognosis if they can be diagnosed early and treated in time with sodium supplementation，antibiotic treatment or surgical intervention.

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Clinical evolution of febrile infection-related epilepsy syndrome （FIRES） in children：a retrospective cohort study DING Guang-yao, CHENG Min, LUO Yuan-yuan, et al 2025, 40(1): 46-53.  DOI: 10.19538/j.ek2025010608 Abstract ( )   Objective    To analyze the clinical characteristics and clinical outcomes of the children with FIRES at acute stage， aiming to find the risk factors related to prognosis and provide reference for clinical decision of FIRES. Methods This is a retrospective single-center cohort study， in which the clinical data of all FIRES children hospitalized in Children’s Hospital of Chongqing Medical University from June 2015 to June 2021 were analyzed. These children were followed up and their prognoses were evaluated by modified Rankin score， and then they were divided into groups for summary and analysis.  Results    A total of 54 children were included in this study， including 30 males and 24 females.The median onset age was 5.9 years. There were 11 toddlers（20.4%），18 preschool children（33.3%），and 25 school-age children（46.3%）.During the follow-up，3 children died and 2 were lost to the follow-up.The median follow-up period was 44 months for the other children. On discharge，31 cases（57.4%）were classified as good prognosis while the other 23（42.6%）as poor prognosis. There were 44 cases（84.6%） with good prognosis and 8 cases（15.4%）with poor prognosis at 1 year after discharge.With the extension of survival time，the mRS score was apparently improved， and the prognosis tended to improve.Overall，44 children（89.8%）developed secondary epilepsy at the chronic stage，of which 61.4% （27 cases ） were drug-resistant epilepsy. 41 children（83.7%，41/49）had neurological sequelae， inclu-ding motor impairment（n=7），mental retardation（n=30）and neurobehav-ioral abnormalities（n=10）.The types of anesthetics used in combination（OR=11.67，95% CI 2.09-65.18，P=0.005）in acute stage were independent risk factors for the poor prognosis on discharge. Conclusion    Most FIRES children have good prognosis after treatment. During one-year follow-up period，most of the children present with epilepsy at chronic stage， and may have different degrees of neurological sequelae， but their neurological function gradually improves over time.The types of anesthetics used in combination in the acute phase are the independent risk factors of poor prognosis of FIRES on discharge.

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Detection of fecal bile acid components in exclusively breastfed infants with different defecation frequencies and its significance HE Cheng-hui, SHAN Zi-hong, HE Qing-qing, et al 2025, 40(1): 54-59.  DOI: 10.19538/j.ek2025010609 Abstract ( )   Objective    To study the correlation between the changes in the content of individual bile acid components in the feces of infants who are exclusively breastfed and the frequency of defecation， in order to find the differential metabolites of bile acid which regulate the defecation frequencies of infants and provide beneficial suggestions for clinical intervention. Methods    Totally 102 healthy，full-term，exclusively breastfed infants aged 0.5-6 months were selected，who underwent health consultations and regular check-ups at the Pediatric Outpatient and Preventive Health Care Department of the First Affiliated Hospital of Kunming Medical University from September 2022 to May 2023.Fecal specimens were collected from these infants and categorized into three groups based on different defecation frequencies.The groups included the increased defecation frequency group（defecating more than 3 times per day， Group A，n=34），the decreased defecation frequency group（defecating once in more than 3 days or needing assistance to defecate， Group B，n=32），and the control group（defecating less than or equal to 3 times per day or defecating once within 3 days，Group C，n=36）. The content of bile acids was detected in feces by UPLC-MS/MS. Results    Chenodeoxycholic acid levels were significantly higher in group A than in groups C and B （P<0.017）， Ursodeoxycholic acid levels were significantly higher in group B than in groups C and A （P<0.017）. The difference in deoxycholic acid and lithocholic acid were statistically significant between group A and group B （P < 0.017）. When comparing the levels of cholic acid and glycochenodeoxycholic acid among the three groups， no statistically significant difference was found. Conclusion Chenodeoxycholic acid and ursodeoxycholic acid may serve as potential differential metabolites associated with increased or decreased defecation frequency in exclusively breastfed infants.

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Domestic and international research status on measurement tools for acute and post-traumatic stress disorder syndromes in children and adolescents ZHANG Yan-hong, LING Fang, HU Shen-jie, et al 2025, 40(1): 60-66.  DOI: 10.19538/j.ek2025010610 Abstract ( )   Post-traumatic stress disorder （PTSD） in children is one of the mental health conditions most easily overlooked in clinical settings. When children are admitted to the hospital following a traumatic event， it is essential to screen for both PTSD and acute stress disorder （ATSD） to facilitate early intervention and support. This review summarizes the measurement tools， predictive indicators， and novel assessment tools for PTSD and ATSD in children and adolescents. The aim is to provide a theoretical basis for improving comprehensive assessments in traumatized children and to enhance the clinical ability to evaluate and screen for early PTSD in children.

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Research progress of breastfeeding in preventing NEC complicating congenital heart disease ZHU Meng-xin, GU Ying, FU Wei-jia, et al 2025, 40(1): 67-72.  DOI: 10.19538/j.ek2025010611 Abstract ( )   Necrotizing enterocolitis can cause gastrointestinal emergencies and dysfunction in newborns， especially in children with congenital heart disease， in whom the incidence of NEC is relatively high. This article describes the research progress in the etiology， mechanism and intestinal protection of effective components of breast milk in children with congenital heart disease at home and abroad， analyzes and summarizes the obstacles to breastfeeding in children with congenital heart disease， and proposes intervention strategies， aiming to provide clinical practice references for medical staff in this specialty.

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RAG1 mutation with cytopenia as the first manifestation： a case report and literature review HUANG Ya-ju, YANG Lu, CHEN Jun-jie, et al 2025, 40(1): 73-77.  DOI: 10.19538/j.ek2025010612 Abstract ( )   To investigate the clinical and immunological characteristics of a child with atypical severe combined immunodeficiency caused by RAG1 mutation by analyzing the clinical data，TREC/KRECs content，refined immune typingand TCR Vβ subfamily clonal patterns of the child， who was admitted to Children’s Hospital of Chongqing Medical University on July 3，2020. This was an 8-month-old girl who presented with AIHA and ITP as first symptoms，accompanied by fever and diarrhea. Immunological analysis revealed a T-B+NK- phenotype，and TREC/KREC content was significantly lower than normal.The TCR Vβ subfamilies mostly showed monoclonal peaks.After steroid pulse therapy，intravenous immunoglobulin，eltrombopag and mycophenolate mofetil，there was no obvious effect.While waiting for transplantation，the patient died of intracerebral hemorrhage due to intractable thrombocytopenia.The clinical manifestations of immune deficiency disorders caused by RAG1/RAG2 gene mutation are various，especially when autoimmune hemocytopenia is the first symptom，which makes it very likely to have missed or delayed diagnosis; moreover，the treatment effect is not good.Early identification and diagnosis and timely stem cell transplantation may reduce mortality.

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One case of congenital disorder of glycosylation with liver involvement and literature review SONG Lin, XU Xi-wei 2025, 40(1): 78-83.  DOI: 10.19538/j.ek2025010613 Abstract ( )   A retrospective analysis was conducted on the case data of a child with congenital disorder of glycosylation caused by PMM2 gene mutation admitted to Beijing Jingdu Children's Hospital on May 11， 2020 due to liver damage， in order to understand the clinical phenotype and characteristics of congenital disorder of glycosylation caused by PMM2 gene mutation. Through literature review， the clinical and genetic characteristics of congenital disorders of glycosylation  mainly involving the liver were summarized. The results showed that the child was an 8-month-old female infant with onset of liver damage and myocardial damage， accompanied by coagulation dysfunction， hypoglycemia， hypoalbuminemia， thyroid dysfunction， abdominal fluid accumulation， and developmental delay. Physical examination showed signs of inverted nipples and esotropia. Head MRI suggested possible cerebellar dysplasia and Dandy Walker malformation. Gene analysis showed PMM2 compound heterozygous mutations c.448-2A>G （splicing）， c.712C>G （p.R238G）. After symptomatic treatment of liver protection， plasma and human albumin infusion， the child's abnormal laboratory test indicators improved significantly. Long-term follow-up showed significant mental and motor developmental delay. Based on the literature search， it is found that there are two main types of congenital disorders of glycosylation  with liver involvement. One type is mainly liver involvement， including MPI-CDG， TMEM199-CDG， CCDC115-CDG， ATP6AP1-CDG， SLC37A4-CDG， and VMA21-CDG. The other type is mainly other system involvement combined with liver damage， including PMM2-CDG， ALG-CDG， PGM1-CDG， and COG-CDG. Liver damage is mainly manifested as liver enlargement， elevated transaminase levels， abnormal coagulation function，and hepatic fibrosis， etc.， and a few can cause liver failure. Therefore， it can be concluded that congenital disorders of glycosylation has diverse clinical manifestations and can involve multiple systems， with liver damage being a common clinical manifestation.

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A family with early-onset Charcot-Marie-Tooth disease （CMT） 4F caused by a novel mutation of the PRX gene YANG Yan-zhang , LUO Lei, WANG Li, et al 2025, 40(1): 84-88.  DOI: 10.19538/j.ek2025010614 Abstract ( )   This paper retrospectively analyzes the clinical manifestations，neuroelectrophysiology，and genetic testing results of a 7-month-old boy， who was admitted to Department of Pediatrics of Hebei People’s Hospital for treatment in May 2020 because of delayed motor development （four months delayed）. He was with early-onset Charcot-Marie-Tooth disease（CMT）4F caused by a novel mutation of the PRX gene. Genetic testing showed that both the proband and his brother had homozygous frameshift mutation in the PRX gene（NM_181882.3）c.2320_ 2321 delinsTTC（p.V774Ffs * 53），which was respectively inherited from their parents who were carriers.Literature analysis shows that children with this disease often exhibit delayed motor development milestones，symmetrical muscle atrophy at the distal ends of both lower limbs，sensory ataxia，decreased motor nerve conduction velocity，and demyelinating changes.Early genetic testing can help clarify the diagnosis and provide genetic counseling for the family.