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06 December 2024, Volume 39 Issue 12 Previous Issue   

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Expert consensus on the perioperative management of bronchoscopy for Mycoplasma pneumoniae pneumonia in children in China Pediatric Respiratory Standardization Diagnosis and Treatment and Quality Control Working Committee, China Quality Association for Pharmaceuticals 2024, 39(12): 881-886.  DOI: 10.19538/j.ek2024120601 Abstract ( )   Mycoplasma pneumoniae pneumonia （MPP） is the most common community-acquired pneumonia in children over 5 years old in China. Rationally diagnosing and treating severe and critical cases， as well as preventing mortality and sequelae， constitutes the core and pivotal challenges in the diagnosis and treatment of MPP. Bronchoscopy has played a significant role in the diagnosis， especially the treatment of MPP. In order to standardize the perioperative management of bronchoscopy for children with MPP， some experts in this field in China have written a consensus on the perioperative management of MPP in children based on the progress of diagnosis and treatment in recent years and evidence-based evidence， in order to guide and standardize the rational application of bronchoscopy in the diagnosis and treatment of MPP by pediatricians， reduce or avoid bronchoscopy-related complications， and reduce the sequelae of MPP and mortality.

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Expert consensus on intergrated Chinese and western diagnosis and treatment of functional constipation in children Gastroenterology Group, the Society of Pediatrics, Chinese Medical Association, Children’s Health Collaborative Innovation Platform of China Association of Chinese Medicine, Editorial Committee of Chinese Journal of Practical Pediatrics 2024, 39(12): 887-893.  DOI: 10.19538/j.ek2024120602 Abstract ( )   Constipation is one of the most common digestive symptoms in childhood. It seriously affects the quality of life and even the physical and mental development of children in China， and children with constipation often seek medical treatment repeatedly， which increases the burden on families and medical care. Functional constipation （FC） is the most common form of constipation in children. To standardize the clinical diagnosis， treatment， and long-term management of FC in children with integrated Chinese and Western medicine， the Expert Committee of the Collaborative Innovation Platform for Children's Health of the Chinese Society of Traditional Chinese Medicine （CSTCM） initiated and organized some Chinese and Western medicine experts in this field to jointly formulate this expert consensus. The Consensus systematically comprehends FC from the aspects of epidemiology， etiology， diagnostic criteria， clinical evaluation， and clinical management， and especially gives the combination points of Chinese and Western medicine for different stages of FC， to provide rationalized suggestions and references for the diagnosis and treatment of FC in children and promote the development of the research on the combination of Chinese and Western medicine in FC.

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Expert consensus on immune assessment and clinical management of BCG vaccine disease Inborn Errors of Immunity Alliance of National Children’s Medical and Clinical Research Center（IEI.CHN） 2024, 39(12): 894-900.  DOI: 10.19538/j.ek2024120603 Abstract ( )   Bacillus calmette-guerin （BCG） disease is an abnormal reaction that may occur after inoculation with the BCG vaccine， especially in immunodeficient children. Inborn Errors of Immunity Alliance of National Children’s Medical and Clinical Research Center（IEI.CHN）has developed an expert consensus to standardize the diagnosis and treatment of BCG disease. The consensus states that BCG disease can be divided into local infection， regional infection， distant infection and disseminated infection. The diagnosis is based on BCG vaccination history， clinical presentation， and etiological or pathological evidence. Assessment of immune function is critical in children with distant and disseminated infections. Therapeutically， prophylactic anti-tuberculosis therapy is recommended for immunodeficient children susceptible to BCG. For IEI patients with BCG disease， long-term anti-tuberculosis therapy is required. Some types of IEI require radical treatment by hematopoietic stem cell transplantation. The consensus also highlights the importance of immunotherapy， especially for Mendelian genetic mycobacterium susceptibility diseases with reduced interferon-gamma production.

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Pathogenesis and diagnostic difficulties of multiple acyl-CoA dehydrogenase deficiency LYU Yong-fen, GUO Sheng 2024, 39(12): 901-906.  DOI: 10.19538/j.ek2024120604 Abstract ( )   Multiple acyl-CoA Dehydrogenase Deficiency （MADD）， also known as glutaric aciduria type II， is an autosomal recessive genetic disease caused by a gene defect encoding electron-transporting flavoprotein or electron-transporting flavoprotein dehydrogenase. The disease mainly affects the β-oxidation of fatty acids and specific amino acids and the metabolism of choline. MADD is subdivided into three categories based on the differences in onset time and clinical manifestations. Type Ⅰ has a neonatal onset and is accompanied by congenital malformations. Type Ⅱ has a neonatal onset and is not accompanied by congenital malformations. Type Ⅲ has a late onset， diverse symptoms， and the majority of cases carry ETFDH mutations and respond well to riboflavin treatment. The diagnosis of MADD is mainly based on the blood acylcarnitine spectrum， urine organic acid spectrum and genetic analysis. However， due to the lack of specific symptoms and signs in MADD patients， the clinical diagnosis remains challenging. Starting from the pathogenesis and clinical phenotype of MADD， this review presents a detailed description of diagnostic difficulties and key points， with the objective of enhancing our knowledge of this disease and increasing diagnostic efficiency.

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Pay attention to the bone health status of patients with disorders of sex development LI Le-le, GONG Chun-xiu 2024, 39(12): 906-911.  DOI: 10.19538/j.ek2024120605 Abstract ( )   Disorders of sex development （DSD） is a collective term for a large group of genetically heterogeneous disorders affecting multiple systems in human body. Childhood is a critical period for bone growth and development and has a significant impact on bone health in adulthood. In this paper， the bone health status of DSD patients with different etiologies was expounded. The problem of bone mass loss was common in DSD patients， and it was suggested that clinical attention should be paid to the bone health status of DSD patients.

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Current situation and prospect of the diagnosis and treatment of methylmalonic acidemia WANG Zhi-hua , LIU Chao, LI Ma-li 2024, 39(12): 911-915.  DOI: 10.19538/j.ek2024120606 Abstract ( )   Methylmalonic acidemia or aciduria （MMA） is a common organic acidemia/aciduria in China. It is caused by the metabolic disorder of methylmalonyl-CoA mutase （MCM） or its coenzyme cobalamin （cbl）， resulting in a large number of metabolites accumulating in the body， and causing damage to nerves， liver， kidney， bone marrow and other organs. Due to the diverse clinical features and lack of specificity， it is particularly prone to misdiagnosis and missed diagnosis，and finally it has to be diagnosed by biochemical and metabolic examination and genetic testing. Once diagnosed， the patients with isolated MMA with no response or partial response to vitamin B12 should start limiting protein intake as early as possible. For patients with response to vitamin B12，long-term treatment with vitamin B12 can be given （hydroxycobalamin preferred）. MMA patients with hyperhomocysteinemia can be given oral betaine to reduce homocysteine levels. For MMA patients with secondary hyperammonemia， treatment with carglumic acid is of good efficacy. For patients with poor response to treatment， liver （or liver and kidney） transplantation may be attempted. Gene therapy has made some progress in animal experiments in recent years， and it is expected that it can be applied to patients in the future to achieve new breakthroughs.

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Drug strategy for adolescent 21 hydroxylase deficiency GAO Kang, SONG Fu-ying, CHEN Xiao-bo 2024, 39(12): 916-920.  DOI: 10.19538/j.ek2024120607 Abstract ( )   Management of adolescents with 21-hydroxylase deficiency （21-OHD） presents unique challenges because of poor adherence to medical therapy and the increase in drug metabolismand clearance rate. Rational use of adrenocortical hormone for adolescents with 21-OHD is emphasized to avoid excessive androgen and premature closure of epiphysis caused by insufficient glucocorticoids， and to avoid drug overdose resulting in secondary Cushing syndrome.It is very important to monitor the growth and development of adolescents and biomarkers， adjust the medication in time and find the complicating diseases correctly， such as  testicular adrenal rest tumours  （TARTs）. There is no guideline or consensus on the application of growth hormones and aromatase inhibitors， and the indications for withdrawal of gonadotropin releasing hormone analogues in adolescent children， and individualized diagnosis and treatment is required.

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Diagnosis and treatments of rare type diabetes in children XU Xiao, SUN Yan 2024, 39(12): 920-929.  DOI: 10.19538/j.ek2024120608 Abstract ( )   Rare diseases involve multiple systems， and may be related to the endocrine and metabolic systems， in which abnormal glucose metabolism accounts for a large proportion. Diabetes-related rare diseases  can be divided into monogenic diabetes， genetic syndrome with diabetes， rare immune mediated diabetes， and so on. These diseases often occur insidiously， and the clinical symptoms are overlapped with other systematic symptoms， which are easy to be missed in the diagnosis. Thediagnosis of diabetes-related rare diseases in children is a clinical difficulty. The identification of specific clinical phenotype and biochemical changes to increase the diagnosis rate of genetic detection is the key point. At present， there is no effective treatments， and symptomatic treatments are the main method. Targeted treatment based on precise diagnosis is the development direction in diabetes-related rare diseases in children.

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Diagnosis and treatment progress in pituitary stalk interruption syndrome ZHU Min, ZHU Gao-hui 2024, 39(12): 930-933.  DOI: 10.19538/j.ek2024120609 Abstract ( )   Pituitary stalk interruption syndrome （PSIS） is a significant pituitary development defect that can be identified by magnetic resonance imaging （MRI）， with highly heterogeneous clinical phenotype. The clinical manifestation is progressive pituitary hormone deficiencies， which progress to panhypopituitarism in adulthood. The neonatal onset PSIS is mostly complete pituitary hormone deficiency， which is severe and life-threatening， and it may be accompanied by extrapituitary congenital defects and malformations. The exact etiology and mechanism are not completely understood. This syndrome is early development abnormalities with complex genetic patterns and is associated with environmental factors. In some patients it is associated with genetic variations in signaling pathways that regulate pituitary development during embryonic development. Prompt identification and diagnosis， early intervention and treatment and lifelong follow-up are essential for the prognosis and quality of life in patients with PSIS.

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Impacts of respiratory syncytial virus infection in infants on future respiratory health and its challenges to public health SUN Li-hong, WU Zhong-ping, YE Ying-tong, et al 2024, 39(12): 934-940.  DOI: 10.19538/j.ek2024120610 Abstract ( )   Respiratory syncytial virus （RSV） is one of the leading pathogens responsible for acute lower respiratory infections （ALRTI） in children under five years old worldwide. ALRTI caused by RSV infection not only poses significant short-term health risks to infants but is also associated with the future development of asthma and chronic obstructive pulmonary disease. This review comprehensively discusses the epidemiological characteristics of RSV infection， its long-term impact on respiratory health， and the underlying mechanisms. It aims to provide insights into the broad health effects， substantial economic burden， and challenges to public health systems posed by RSV infection， thereby offering a reference for the development of proactive and effective prevention and control strategies.

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A study on the genetic etiology and clinical phenotypes of childhood obesity based on whole exome sequencing technology HUANG Hui, YANG Yu, LIANG Yi-wei, et al 2024, 39(12): 941-948.  DOI: 10.19538/j.ek2024120611 Abstract ( )   Objective    To explore the genetic etiology and clinical phenotypes of non-syndromic obesity in children and adolescents. Methods    We collected the data of 391 non-syndromic obese children aged 7-14 years，who were admitted to the Department of Endocrinology，Genetics and Metabolism of Jiangxi Children's Hospital from January 2020 to June 2022. Whole-exome sequencing was employed to identify potential genetic causes，followed by a detailed analysis of copy number variations （CNVs），obesity-associated target genes，and 79 previously reported candidate genes for obesity. The American College of Medical Genetics and Genomics （ACMG） guidelines were utilized to classify genetic variants and to analyze gene variations and clinical phenotypes. Results    The study cohort comprised 391 non-syndromic obese children and adolescents，all of whom exhibited obesity symptoms before the age of 10，with 302 males and 90 females，resulting in a male-to-female ratio of 3.38∶1. Genetic screening outcomes： A total of 32 cases （8.2%） were identified carrying 18 non-syndromic obesity genes，with a male-to-female ratio of 2.2∶1 in the positive group. The majority of these cases were observed in the 9-12-year-old age bracket，with UCP3 and MC4R being the most common genes. Clinical-genetic correlations： Univariate and multivariate logistic regression analyses revealed that there were significant statistical differences in urinary trace proteins，free thyroxine （fT4），serum alanine aminotransferase （ALT），serum glutamyl transpeptidase （GGT），uric acid，blood phosphorus，paternal weight，family history of diabetes，obesity and hypertension， impaired glucose tolerance （IGT）， non-high-density lipoprotein cholesterol（non-HDL-C）， and complicated metabolic syndrome （P<0.05）. Multivariate Logistics statistical analysis showed that blood phosphorus emerged as an independent risk factor for genetic factors of obesity in children and adolescents （P<0.05）. Conclusion    This study has identified UCP3 and MC4R as the most prevalent genes associated with non-syndromic obesity in children and adolescents，suggesting their potential as key genetic markers. Based on univariate analysis，a nomogram prediction model is developed and validated to serve as a clinical tool for risk prediction and to guide the screening of genetically susceptible children.

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Clinical manifestations and gene analysis of 125 cases of Prader-Willi syndrome GUO Ya-nan, LIU Ying, YANG Wei, et al 2024, 39(12): 949-953.  DOI: 10.19538/j.ek2024120612 Abstract ( )   Objective　To investigate the relationship between genotype and clinical phenotype in patients with Prader-Willi syndrome. Methods　The clinical data of 125 patients with PWS treated in Children's Hospital Affiliated to Zhengzhou University from January 2013 to December 2023 were retrospectively analyzed. Results　Of 125 PWS patients， 67 were male and 58 were female. Fifteen cases were（12.00%） diagnosed before the age of 1 year， and 110 cases（88.00%） were diagnosed after the age of 1 year. There were 16 preterm births （12.80%） and 109 full-term births （87.20%）. Main manifestations of PWS patients included：124 cases（99.20%） of hypotonia in infancy，123 cases （98.40%） of backward mental development， 119 cases（95.20%） of feeding difficulties in infancy， 63 cases （94.03%） of cryptorchidism in boys， 105 cases （84.00%） of short stature， 102 cases （81.6%） of low fetal movement，101 cases （80.80%） of indistinct speech，92 （73.60%） cases of hypopigmentation in skin， 78 cases （62.40%）of gluttonism and obesity，77 cases （61.60%） of small hands or feet，69 cases （55.20%） of compulsive behavior， 61 cases （48.80%） of special face， 57 cases （45.60%） of mental disorders， 51 cases（40.80%） of self-harm behavior and 34 cases （27.20%） of sleep apnea. There was a partial correlation between genotype and clinical phenotype in PWS， paternal deletion （PD） patients had a higher incidence of special facial features， hypopigmentation of skin， and indistinct speech than maternal uniparental diploid （mUPD）， and there was a statistical difference. The mUPD patients had a higher incidence of sleep apnea， compulsive behavior， psychological disorders and self-harm behavior than PD patients， and there was a statistical difference. Conclusion　The early diagn-osis rate of PWS patients is low, the clinical manif-estations are diverse, and the clinical phenotypes of patients with different genotypes were different.

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Advances in genetics of pediatric hypertrophic cardiomyopathy LIU Jia-ling, LIU Fang 2024, 39(12): 954-960.  DOI: 10.19538/j.ek2024120613 Abstract ( )   Hypertrophic cardiomyopathy（HCM） is one of the most common inherited cardiomyopathies in children，with pathological features including cardiomyocyte enlargement，cardiomyocyte disturbances and myocardial fibrosis，and the typical clinical feature is the presence of left ventricular hypertrophy that cannot be explained by abnormal loading.Although great progresses have been made in the comprehensive medical and surgical treatment of HCM，the disease progression cannot be reversed，and the prognosis of HCM is still poor. Therefore，with the continuous development of molecular biology， the genetic diagnosis and treatment of HCM is expected to become a new diagnosis and treatment scheme.This article reviews the current progress in the genetic research of HCM in children.