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06 March 2025, Volume 40 Issue 3 Previous Issue   

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Expert consensus on rehabilitation assessment and treatment of hereditary spastic paraplegia in children The Subspecialty Group of Rehabilitation, the Society of Pediatrics, Chinese Medical Association Physiotherapy Professional Committee, Chinese Rehabilitation Medical Association 2025, 40(3): 177-187.  DOI: 10.19538/j.ek2025030601 Abstract ( )   Hereditary spastic paraplegia （HSP） encompasses a group of degenerative disorders of the central nervous system characterized by significant clinical and genetic heterogeneity. Currently， there is no definitive cure; however， standardized diagnostic and management strategies can mitigate symptoms， delay disease progression， and improve quality of life.  At present， there is a significant lack in the understanding of HSP in China, and there is no standardized rehabilitation assessment and treatment. By referring to the literature at home and abroad and through combination with clinical practice experience, the experts in China are organized by The Subspecialty Group of Rehabilitation，the Society of Pediatrics，Chinese Medical Association  and Physiotherapy Professional Committee， Chinese Rehabilitation Medical Association to deliberate and formulate the “Expert Consensus on Rehabilitation Assessment and Treatment of HSP in Children，” which is aimed at providing a valuable reference for clinical practice in the management of HSP.

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Expert consensus on vaccination of children with allergic diseases and on targeted therapy Zhejiang Preventive Medical Association, Pediatric Allergy Committee of China Maternal and Child Health Association, Children’s Hospital, Zhejiang University School of Medicine 2025, 40(3): 188-193.  DOI: 10.19538/j.ek2025030602 Abstract ( )   The incidence of allergic diseases in children is increasing year by year. With the development of diagnosis and treatment technology， targeted therapy such as biologics and small molecule compounds is gradually applied to children with allergic diseases. Children with allergic diseases and those treated with targeted therapy are at increased risk of developing infectious diseases. This consensus reviews the literature on vaccination-related clinical issues of children with allergic diseases and those receiving targeted therapy. Through the multidisciplinary expert discussions， the consensus is finally formed， which is aimed to provide a reference for pediatricians in clinical practice.

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Advancing the standardized management of congenital heart disease-related chronic heart failure： an interpr-etation of the 2024 AHA scientific statement  GE Yong-jin, ZHANG Chen-mei, HE Wei-mei, et al 2025, 40(3): 194-201.  DOI: 10.19538/j.ek2025030603 Abstract ( )   Congenital heart disease （CHD） is one of the leading causes of chronic heart failure in children and adolescents. Due to the complexity of anatomical and physiological characteristics， the management strategies for CHD-related heart failure differ from those for adult heart failure. In 2024， the American Heart Association released a scientific statement that provides a comprehensive analysis of the epidemiology， pathophysiology， clinical staging， and management strategies for CHD-related chronic heart failure. This interpretation aims to provide the latest evidence-based medical insights for domestic clinicians to guide the clinical management of CHD-related chronic heart failure.

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New challenges in the diagnosis and treatment of dilated cardiomyopathy in children LI Zi-pu, TIAN Jie, HAN Ling 2025, 40(3): 202-211.  DOI: 10.19538/j.ek2025030604 Abstract ( )   Dilated cardiomyopathy （DCM） is the most common myocardial disease in children， and is also the leading cause of death in children with chronic heart failure and of children receiving heart transplantation. The etiology of DCM in children is highly heterogeneous， and precise diagnosis with the goal of clarifying the etiology faces huge challenges; Meanwhile， prospective and randomized controlled clinical studies on the treatment of pediatric DCM are extremely rare， and there is an urgent need to develop or improve evidence-based guidelines for standardized familial management and genetic counseling of pediatric DCM.

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Genetics of dilated cardiomyopathy in children ZHANG Yan-min , ZHOU Ya-fei 2025, 40(3): 212-218.  DOI: 10.19538/j.ek2025030605 Abstract ( )   Dilated cardiomyopathy（DCM）is the leading cause of heart failure and heart transplantation. Genetic etiology plays an important role in the development of the disease. Especially for children with DCM， genetic etiology has a greater impact on the occurrence， development， and clinical outcomes of the disease. Accurate genetic diagnosis， identification of pathogenic genes and genetic variants and genotype phenotype relationships are of great significance in the development of targeted therapies for DCM. A comprehensive genetic counseling system has a positive effect on improving the diagnosis and management level of the disease.

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Application value of cardiovascular magnetic resonance in pediatric dilated cardiomyopathy SHEN Jie, JIA Hui-hui, SUN Ling 2025, 40(3): 218-224.  DOI: 10.19538/j.ek2025030606 Abstract ( )   Dilated cardiomyopathy （DCM） is a highly heterogeneous cardiac disorder with complex etiologies. This review systematically explores the applications value of cardiovascular magnetic resonance （CMR） in pediatric DCM， including its advantages in etiological diagnosis， myocardial assessment， treatment effect monitoring， and prognostic judgment. Basic CMR sequences in DCM include cine sequences， black-blood sequences， and late gadolinium enhancement. Other sequences include T1 mapping， T2 mapping， extracellular volume fraction， and myocardial perfusion imaging. CMR also demonstrates significant value in evaluating right ventricular function， myocardial strain analysis， and intraventricular pressure gradient measurement. Meanwhile， this paper summarizes the CMR phenotypic features of specific genetic subtypes of DCM and describe challenges in applying CMR in pediatric patients and the strategies to deal with them，which provides robust support for clinicians to optimize diagnosis and personalized treatment approaches.

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Drug therapy for heart failure in children with dilated cardiomyopathy  SUN Hui-chao, LYU Tie-wei 2025, 40(3): 225-231.  DOI: 10.19538/j.ek2025030607 Abstract ( )   Dilated cardiomyopathy （DCM） is a group of cardiomyopathies characterized by enlargement of the left ventricle or both ventricles accompanied by systolic dysfunction， which ranks first in the incidence of cardiomyopathies in pediatric patients， with cardiac enlargement， heart failure， arrhythmia and even embolism as the basic clinical manifestations. Its treatment includes etiologic therapy， drug therapy and surgical therapy，aiming to effectively control heart failure and arrhythmia， prevent sudden death and embolism， and improve the quality of life and survival rate of patients， among which anti-heart-failure drug therapy is the basis of DCM treatment. In this article， we discuss the drug selection and treatment progress of heart failure in DCM children， in order to provide guidance and recommendations for clinical treatment.

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Diagnosis and management of refractory heart failure in children with dilated cardiomyopathy GAO Li- chao, XIE Chun-hong 2025, 40(3): 231-239.  DOI: 10.19538/j.ek2025030608 Abstract ( )   Dilated cardiomyopathy is a chronic heart disease characterized by left ventricular enlargement， systolic dysfunction， and high heterogeneity. When dilated cardiomyopathy progresses to the stage of refractory heart failure， patients' clinical symptoms significantly worsen and are accompanied by intolerance to medication. At this point， traditional treatment methods often fail to achieve ideal therapeutic effects. The quality of life of these patients deteriorates rapidly， and the disease progresses swiftly. Without timely intervention， they may face life-threatening risks in a short period of time. For children with dilated cardiomyopathy， it is particularly important to promptly identify refractory cardiomyopathy and provide appropriate intervention measures. This article reviews the progress in the diagnosis and management of refractory heart failure in children with dilated cardiomyopathy.

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Pulmonary artery banding for dilated cardiomyopathy in children XU Qi-teng, CHEN Rui, XING Quan-sheng 2025, 40(3): 239-243.  DOI: 10.19538/j.ek2025030609 Abstract ( )   Dilated cardiomyopathy is a primary cause of cardiogenic death in children. Medical therapy alone proves insufficient， necessitating heart transplantation as the preferred life-saving definitive treatment. Nevertheless， transplantation does not achieve a definitive cure. Pulmonary artery banding （PAB） significantly improves cardiac function in certain pediatric patients， thereby mitigating the need for heart transplantation and showing clinical potential to cure dilated cardiomyopathy. PAB is expected to be a preferred option for the long-term or definitive treatment of pediatric dilated cardiomyopathy.

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Neonatal screening and gene mutations of children with primary carnitine deficiency in Beijing GONG Li-fei, ZHAO Jin-qi, LIU Wei, et al 2025, 40(3): 244-249.  DOI: 10.19538/j.ek2025030610 Abstract ( )   Objective    To investigate the prevalence， clinical and gene mutation characteristics of primary carnitine deficiency（PCD） in Beijing， in order to provide basis for disease diagnosis， treatment and genetic counseling. Methods  The free carnitine and acylcarnitine levels in the blood of 243，898 neonates in Beijing from January 2017 to July 2023 were measured by tandem mass spectrometry（MS/MS）. The clinical， biochemical and gene mutation characteristics of patients with PCD were analyzed. The symptomatic treatment was given and the growth and development were followed up. Results    Among 243，898 live births， 1561 had decreased free carnitine （C0） concentration in initial screeing and 1345 were recalled.Ten cases of PCD were diagnosed and the incidence of PCD was 4.1/100， 000 （1/24， 390） . Six cases of maternal PCD were confirmed. No abnormal clinical manifestations were found in all 10 patients. There was decrease in both blood C0 and multiple acylcarnitine levels. Eight mutations were detected in the SLC22A5 gene of nine patients， including 7 types of reported mutations and 1 novel mutation，with c.1400C>G（p.S467C） as the hot spot mutation，of which three patients showed homozygous mutation，all being c.1400C>G（p.S467C）， and the rest were compound heterozygous mutations. The median follow-up age of 9 patients was 8（5，20）months， and no clinical symptoms were observed. Their growth and development were normal. Conclusion    The prevalence of PCD in Beijing is 1/24，390.c.1400C>G （p.S467C） is the hot spot mutation in PCD patients in Beijing. Patients with PCD confirmed through neonatal screening have no obvious clinical symptoms， but it is necessary to have long-term standardized treatment and follow-up .

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Research progress of short stature in patients with neurofibromatosis type 1 HAN Hui-qiao, PAN Hui, ZHU Hui-juan 2025, 40(3): 250-255.  DOI: 10.19538/j.ek2025030611 Abstract ( )   Neurofibromatosis type 1 （NF1） is an autosomal dominant hereditary disease caused by NF1 gene mutation with an incidence of 2.0 to 4.8 per 10，000. NF1 is a multi-systemic disease characterized by abnormal differentiation of neuroectoderm with the clinical manifestations of café-au-lait macules， iris Lisch nodules， multiple neurofibromas， skeletal deformity， optic glioma and so on. NF1 is closely related to the growth and development of children， and the patients have a higher proportion of short stature than normal population. In this paper， we reviewed the recent researches of NF1 patients with short stature in order to understand the current research status in China and abroad， to raise clinicians' awareness of the growth status of NF1 patients and to provide scientific guidance for the clinical management of growth and development of children with NF1.

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Research progress in metabolic disorders and molecular mechanism of Alström syndrome SHEN Xin-yuan, GUO Sheng 2025, 40(3): 256-260.  DOI: 10.19538/j.ek2025030612 Abstract ( )   Alström syndrome is a rare inherited metabolic disease and ciliary disorder caused by mutations in the ALMS1 gene. One of the principal clinical features of patients with Alström syndrome is metabolic dysregulation， which is involved in the dysfunction of several vital organs and systems. The disease is characterized by a number of symptoms， including retinopathy， hearing loss， diabetes mellitus， and obesity， which are strongly associated with abnormal ciliary function and functional impairment of the ALMS1 protein. Currently， studies on metabolic dysregulation in Alström syndrome have focused on energy metabolism， fat metabolism， and glucose metabolism. However， the specific molecular mechanisms remain poorly understood. This article presents a review of the research progress in the characteristics and pathogenesis of metabolic disorders associated with Alström syndrome， with the objective of deepening the understanding of metabolic disorders associated with this disease and providing references for treatment and prevention.

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Abnormal 46， XY sexual development caused by NR5A1 gene mutation：analysis of the clinical manifestations of a family MA Shi-feng, HAN Xin-yi, LI Yi-lin, et al 2025, 40(3): 261-264.  DOI: 10.19538/j.ek2025030613 Abstract ( )   Mutations in the NR5A1 gene are a frequent cause of 46， XY disorders of sex development. This article retrospectively analyzes the clinical data of a family affected by 46， XY disorder of sex development due to NR5A1 gene mutations and reviews relevant literature. A 2-year-old child， initially identified as female at birth， presented with "ambiguous external genitalia for 1 year" and was subsequently diagnosed with micropenis， hypospadias， and cryptorchidism. There was no abnormal adrenal phenotype. Genetic testing revealed a heterozygous missense mutation p.（Arg84Gly） in the NR5A1 gene. Further genetic analysis confirmed that the mutation was inherited from the child's mother and was also present in the child's elder brother and sister， each displaying varying clinical manifestations. Heterozygous mutations in the NR5A1 gene are a common cause of 46， XY disorders of sex development， and individuals with the same NR5A1 gene variant may exhibit diverse clinical phenotypes， complicating the correlation between genotype and phenotype. Treatment plans should be determined by healthcare professionals and patients together， taking into account the child's age， gender identity， and the severity of external genitalia abnormalities.