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06 November 2024, Volume 39 Issue 11 Previous Issue   

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Expert consensus on rational use of immunomodulators for common respiratory diseases in children（2024 edition） Clinical Pharmacology Group, Pediatrics Branch of Chinese Medical Association, The National Clinical Medical Research Center for Child Health and Disease, Collaborative Group of Rational Drug Use, Respiratory Group, Pediatrics Branch of Chinese Medical Association, et al 2024, 39(11): 801-809.  DOI: 10.19538/j.ek2024110601 Abstract ( )   More and more attention has been paid to the role of immunomodulators in the prevention and treatment of respiratory diseases in children. There are a wide variety of immunomodulators with various mechanisms， their clinical efficacy needs to be further verified， and high-quality research evidence needs to be substantiated. In order to further standardize the rational use of immunomodulators，the Clinical Pharmacology Group of the Pediatrics Branch of the Chinese Medical Association，together with the editorial board of the Chinese Journal of Practical Pediatrics，has invited clinical experts in children's respiratory，immune，infection，allergy，otolaryngology and other disciplines to formulate The Expert Consensus on the Rational Use of Immunomodulators for Common Respiratory Diseases in Children based on clinical practice and evidence-based medicine to systematically summarize the mechanism of commonly used immunomodulators and the clinical evidence，usage and dosage etc. in common childhood respiratory diseases. Six consensus opinions have been put forward concerning their application in common respiratory diseases such as childhood asthma，recurrent respiratory infection，pneumonia，chronic sinusitis and allergic rhinitis，aiming at guiding pediatricians to use immunomodulators scientifically and reasonably.

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Diagnosis and treatment trends in mucopolysaccharidosis I DAI Yang-li, FU Jun-fen 2024, 39(11): 810-815.  DOI: 10.19538/j.ek2024110602 Abstract ( )   Mucopolysaccharidosis type I is a rare and life-threating autosomal recessive disease caused by the deficiency of α-L-iduronidase，resulting in the accumulation of heparan sulfate and dermatan sulfate in the body，leading to progressive multiple organs dysfunction. The diagnosis of MPS type I is based on the quantification of α-l-iduronidase coupled with clinical manifestations，glycosaminoglycan analysis and gene sequencing. Newborn screening is now allowing the early identification of MPS I patients. The current treatment options are mainly allogeneic hematopoietic stem cell transplantation，enzyme replacement therapy and symptomatic treatment. Gene therapy is under development.

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Research advances in fertility assessment and fertility protection inTurner syndrome LIU Xiao-jing, WEI Hai-yan 2024, 39(11): 815-819.  DOI: 10.19538/j.ek2024110603 Abstract ( )   Female fertility refers to ovarian reserve function. Fertility protection refers to the early screening，treatment and special fertility preservation measures for factors that may cause impaired female fertility，so as to achieve the ability to produce genetic offspring.Premature ovarian hypoplasia is the main clinical feature of Turner syndrome，and about 98% of patients have ovarian reserve failure and fertility loss before adulthood，so only about 2% of patients are able to conceive naturally in adulthood. In childhood and early adolescence，ovarian reserve is still present in some children. This article focuses on how to evaluate the ovarian function of children with Turner syndrome at an early stage，and how to start the protective measures for ovarian function at the right time.

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Comprehensive life-cycle management of male congenital hypogonadotropic hypogonadism SU Wei, SU Zhe 2024, 39(11): 820-825.  DOI: 10.19538/j.ek2024110604 Abstract ( )   Congenital hypogonadotropic hypogonadism（CHH） is primarily characterized by manifestations such as micropenis，cryptorchidism，and partial or complete lack of development of secondary sexual characteristics. The disease has a complex pathogenesis and exhibits a wide range of clinical phenotypes. Treatment focus and protocols vary across different stages of life and clinical phenotypes. Timely diagnosis and appropriate treatment are beneficial to sexual development，bone and metabolic health，and may also help to mitigate some of the psychological impacts of CHH.

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Progress in the treatment of pediatric homozygous familial hypercholesterolemia ZHANG Jun, LI Yan-hong 2024, 39(11): 825-830.  DOI: 10.19538/j.ek2024110605 Abstract ( )   Homozygous familial hypercholesterolemia（HoFH） is a rare，life-threatening disease. The main manifestation of the disease is a substantial elevation in low-density lipoprotein cholesterol levels，which can cause atherosclerotic vascular lesions including coronary arteries，beginning in the first ten years of life. HoFH is still a rare disease in pediatric clinical practice， and the diagnosis is usually postponed and the treatment is insufficient. A mutation in the low-density lipoprotein receptor （LDLR） gene is the most common cause of the illness. The disease requires early，intensive and individualized medication and multimodal treatment to improve the prognosis. This article focuses on the treatment progress of HoFH.

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Progress in the diagnosis and treatment of Alström's syndrome and the research WANG Li-bo, ZHANG Qian-wen, WANG Xiu-min 2024, 39(11): 830-836.  DOI: 10.19538/j.ek2024110606 Abstract ( )   Alström syndrome （ALMS） is a rare autosomal recessive disorder caused by a variant in the ALMS1 gene with a complex multisystemic clinical manifestations. The most notable features include childhood obesity，type 2 diabetes mellitus，and retinopathy，with symptoms mostly beginning in infancy and progressively expanding with age. Misdiagnosis and missed diagnosis of ALMS are common due to its complex clinical manifestations，poor prognosis，and age-dependence. In this article，we will discuss the diagnosis and treatment of ALMS and the progress of research，emphasizing the importance of early recognition and intervention，with a view to improve patients' multi-organ dysfunction，prolong life expectancy and improve quality of life.

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Current status and advances in the treatment of 21-hydroxylase deficiency ZHANG Xing-xing 2024, 39(11): 836-838.  DOI: 10.19538/j.ek2024110607 Abstract ( )   The classic treatment for 21-hydroxylase deficiency is by supplementing glucocorticoids and minerocorticoids and controlling the production of adrenal androgens，but its long-term management is challenging. The current glucocorticoid substitution therapy has its limitations for 21-OHD patients. There are limitations in monitoring existing biochemical indicators of efficacy in 21-OHD patients. The problem of genital surgery for 21-hydroxylase deficiency women with abnormal sexual development is controversial. This paper describes the limitations of traditional glucocorticoid treatment and new treatment methods，the problems of efficacy evaluation and new evaluation methods，and the genital surgery for 21-hydroxylase deficiency women with abnormal sexual development.

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A retrospective single-center analysis of inborn errors of immunity combined with liver occupation ZOU Liang-yan, SUN Bi-jun, YAO Qiong, et al 2024, 39(11): 839-844.  DOI: 10.19538/j.ek2024110608 Abstract ( )   Objective    To analyze the clinical characteristics，treatment，and prognosis of inborn errors of immunity （IEI） combined with liver occupation，and to improve the diagnosis and management of this disease. Methods    IEI patients who were hospitalized in the Department of Allergy and Clinical Immunology of the Children's Hospital of Fudan University and whose abdominal imaging suggested hepatic occupation were included. The clinical data of the patients were analyzed and they were grouped by prognosis for comparison. Results    A total of 19 children with IEI combined with liver occupation were admitted to the hospital. The prevalence of IEI children with liver occupation was 2.8%（19/687），the median time of onset of disease was 2 months of age，and the age offindingliver occupation was 12 months of age. Elevated CRP level （94.7%，18/19），anemia （78.9%，15/19），fever （57.9%，11/19），and hypoalbuminemia （31.6%，6/19） were the main abnormalities. Detection rate of hepatic occupation on ultrasound was lower than that on CT （63% vs 100%）. Hepatic occupation was with a maximum diameter of 19 mm （10 mm-50 mm） and multiple occupation （14/19）. The classifications of liver occupations：liver abscess （6/19），hepatic tuberculosis （4/19），hepatic EBV infection （2/19），hepatic fungal infection （1/19），hepatic hemangioma （2/19），and unknown nature （4/19）. Infectious lesions accounted for 68.4% （13/19）. IEI disease categories included chronic granulomatous disease （8/19），severe combined immunodeficiency disease （5/19），susceptible disease to Mendelian mycobacteria （3/19），activated phosphatidylinositol 3-kinase delta syndrome （1/19），hyper IgE syndrome （1/19） and combined immunodeficiency disease （1/19）. At a mean follow-up of 7 months，16 patients completed the follow-up （7 had good prognosis and 9 had poor prognosis）. The mean duration of hospitalization was 39 days. The levels of CRP （19 vs. 57 mg·/L，P=0.004） and white blood cell counts （9x109/L vs 12x109/L，P=0.04） were significantly improved after 4 weeks of treatment. Conclusion    IEI combined with liver occupation is rare，and infection is the main cause. Liver abscess and hepatic tuberculosis account for the majority of cases，with a long duration of anti-infection treatment. Joint participation of physicians and surgeons is needed in therapeutic decision-making when necessary.

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A retrospective study of ventricular septal hypertrophy in nondialysis children with chronic kidney disease QIU San-ling, XU Ke, WANG Fang, et al 2024, 39(11): 845-850.  DOI: 10.19538/j.ek2024110609 Abstract ( )   Objective    To investigate the risk factors of left ventricular hypertrophy in children with chronic kidney disease （CKD） stage 2-4. Methods    A total of 132 cases of children with chronic kidney disease （stage 2-4） who had not received kidney replacement therapy were retrospectively analyzed from September 2012 to June 2023 in the Pediatric nephrology Department of Peking University First Hospital. According to the patient's medical records，CKD was graded according to the 2012 Improving Global Kidney Outcomes （KDIGO）. According to left ventricular wall thickness，132 patients were divided into two groups：left ventricular hypertrophy group （n=32） and non-left ventricular hypertrophy group （n=100）. The difference of statistical indicators between the two groups was compared，and the correlation analysis between left ventricular wall thickness and various indicators was carried out respectively. The risk factors related to CKD complicated with LVH were screened by multivariate Logistic regression analysis. The predictive value of hypertension and serum creatinine for LVH in patients with CKD was evaluated by receiver operating characteristic curve （ROC）. Results    A total of 132 eligible patients were collected，including 87 boys （65. 9%） and 45 girls （34. 1%）. The main cause of chronic kidney disease was hereditary kidney disease in 44 cases （33. 3%）. This was followed by 36 cases of glomerular disease （27. 3%），21 cases of congenital kidney and urinary tract malformation （CAKUT） （15. 9%），17 cases of renal tubule and/or renal interstitial disease （12. 9%），7 cases of tumor induced kidney damage （5. 3%） and 7 cases of unknown cause （5. 3%）. The number of hypertension cases in CKD was 58，with an incidence of 43. 94%. The incidence of hypertension in each stage was 50% in stage 2，44. 62% in stage 3，and 39. 53% in stage 4. The number of anemia cases was 94 with an incidence of 71. 2%，and the incidence of anemia in each stage was 41. 67% in stage 2，58. 46% in stage 3 and 90. 7% in stage 4. The incidence of left ventricular hypertrophy was 24. 24%. Among the hypertensive patients，39 were taking blood pressure lowering drugs，of which 24 （61. 54%） were taking angiotensin-sure lowering drugsy wa（ARBs） and/or angiotensin-converting enzyme inhibitors （ACEI）；Univariate Logistic regression analysis showed that there were significant differences in systolic blood pressure，diastolic blood pressure，serum creatinine and hypertension between the left ventricular hypertrophic group and the non-left ventricular hypertrophic group （P<0. 05）. Multivariate Logistic regression analysis showed that hypertension and increased serum creatinine were significantly correlated with left ventricular hypertrophy （OR=11. 689，1. 004，95% confidence interval 4. 039-33. 831，1. 000-1. 009，P<0. 05）. The ROC curve drawn according to the model shows that the cut-off value is 0. 33，the sensitivity is 0. 844，the specificity is 0. 7，and the area under the curve is 0. 813. Conclusion    Multivariate Logistic regression analysis showed that the risk factors of left ventricular hypertrophy in children with non-dialysis chronic kidney disease were hypertension and the increase of serum creatinine. The prediction model was suitable for the early diagnosis and prediction of ventricular septal hypertrophy in children with non-dialysis chronic kidney disease，and the prediction effect was good，which had certain clinical value.

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Efficacy and safety of spleen aminopeptidase oral solution in treating children with allergic rhinitis combined with adenoidal hypertrophy： a randomized controlled study  HUANG Yue, LIN Chen, DUAN Bo, et al 2024, 39(11): 851-855.  DOI: 10.19538/j.ek2024110610 Abstract ( )   Objective    To explore the efficacy and safety of spleen aminopeptidase oral solution in treating children with allergic rhinitis combined with adenoidal hypertrophy. Methods    A total of 60 children with allergic rhinitis and adenoidal hypertrophy from the Children’s hospital of Fudan University were selected as the subjects of the study. They were randomly divided into two groups using the random number table method： spleen aminopeptidase oral solution group （loratadine for 1 month + isotonic saline solution for 2 months + spleen aminopeptidase oral solution for 2 months） and the control group （loratadine for 1 month + isotonic saline solution for 2 months）. The primary outcome measure was the ratio of adenoids to nasopharynx （A/N value），and secondary outcome measures included allergic rhinitis scores and adenoidal hypertrophy scores. The primary outcome measure was assessed before treatment and 2 months after treatment. Blood and urine routinewere detectedbefore treatment and 2 months after treatment for safety assessment. Results    Six children were lost，and a total of 54 individuals were included in the analysis，with 25 in the control group and 29 in the spleen aminopeptidase oral solution group. Baseline analysis showed no significant differences between the two groups in terms of gender，age，A/N value，rhinitis symptom scores （including sneezing，runny nose，nasal itching，and nasal congestion），and adenoidal hypertrophy scores （nasal congestion，snoring，mouth breathing，and restless sleep）（P>0.05）. There were no significant differences in the A/N baseline between the two groups before treatment. After 8 weeks of treatment，the A/N ratio in the spleen aminopeptidase oral solution group was significantly lower than that in the control group （Z=-3.534，P<0.001），indicating that spleen aminopeptidase oral solution can effectively reduce the size of the adenoids.Both groups showed improvement in nasal symptoms （including sneezing，runny nose，nasal itching，and nasal congestion），but there was no statistical difference between them （P>0.05）.After 8 weeks of treatment，the improvement in mouth breathing and restless sleep in the spleen aminopeptidase oral solution group was significantly better than in the control group （P=0.007 and P=0.006），while there were no differences between the two groups in nasal congestion and snoring （P=0.159 and P=0.169）. There were no significant differences in routine blood and urine indicators before and after medication use in both the control group and the spleen aminopeptidase oral solution group （P>0.05）. Conclusion    After 8 weeks of treatment with spleen aminopeptidase oral solution in children with allergic rhinitis and adenoidal hypertrophy，the size of the adenoids was significantly reduced，and clinical symptoms related to adenoidal hypertrophy were improved. In addition，its safety was good during the observation period.

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Correlation analysis between pharyngeal secretion of eustachian tube and secretory otitis media in children LIU Ping-fan, SHEN Ling, LIN Zong-tong, et al 2024, 39(11): 856-861.  DOI: 10.19538/j.ek2024110611 Abstract ( )   Objective    To explore the correlation between pharyngeal secretion of eustachian tube and secretory otitis media in children. Methods    103 children with secretory otitis media diagnosed and treated in our department from January 2021 to March 2023 were divided into the case group and 115 children with vocal nodules diagnosed and treated in the same period were divided into the control group. Electronic nasopharyngoscope was performed in the two groups，and distortion product otoacoustic emissions，acoustic immittance，pure tone audiometry，CT scan of temporal bone was performed in the case group at the same time. To analyze the correlation between the pharyngeal secretion of eustachian tube and the results of various examinations. Results    The positive rate of pharyngeal orifice secretion of the eustachian tube in the case group was up to 89.5%，which was significantly higher than the rate of 17.0% in the control group.The proportion of pharyngeal orifice secretion of grade Ⅲ-Ⅳwas significantly higher than that of gradeⅠ-Ⅱ（p<0.05）. The results of the oropharyngeal secretion of grade Ⅲ-Ⅳ eustachian tubes for the diagnosis of secretory otitis media in children were not statistically different from the results of acoustic conduction resistance diagnosis，and the agreement was good. Conclusion    Grade Ⅲ-Ⅳ pharyngeal secretion of eustachian tube may be one of the characteristic manifestations of secretory otitis media in children，and further examination should be carried out to make a definite diagnosis.

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Acute presentation and management of urea cycle disorders SUN Cheng-kai, QIU Wen-juan 2024, 39(11): 862-867.  DOI: 10.19538/j.ek2024110612 Abstract ( )   The acute presentation of urea cycle disorders is characterized by hyperammonemia，with high disability and mortality risks. Patients with urea cycle disorders at acute stage should be identified and diagnosed as early as possible，and the quick control ofthe acute attack would make a great significance in improving the survival and prognosis of the patients with urea cycle disorders.

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Research advances in the pathogenesis of inherited hyperammonemia SU Chang, DING Yuan, LI Le-le, et al 2024, 39(11): 868-872.  DOI: 10.19538/j.ek2024110613 Abstract ( )   Ammonia plays a crucial role in biosynthesis and metabolism. Elevated blood ammonia levels can lead to irreversible damage，particularly to the central nervous system. In children，the most common causes of hyperammonemia are liver failure and inherited metabolic disorders. Inherited hyperammonemia results from defects in enzymes involved in the urea cycle or related metabolic pathways. This article systematically reviews the pathogenesis of inherited hyperammonemia and its association with mitochondrial function， and investigate the role of mitochondrial function in inherited hyperammonemia， which may provide ideas for the development of new drugs.

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Assessment of islet cell function in children and adolescents with type 1 diabetes YOU Feng-yan, SUN Yan, XU Hai, et al 2024, 39(11): 873-876.  DOI: 10.19538/j.ek2024110614 Abstract ( )   Type 1 diabetes is mainly caused by T cell-mediated islet cell-specific immune damage. The characteristics include decreased C-peptide and insulin， positive diabetes-related antibodies，more diabetic ketoacidosis，and dependence on insulin therapy. In clinical practice it is difficult to classify type 1 and type 2 diabetes in some children and adolescents due to atypical clinical features. The assessment of islet β cell function provides an important evidence for the classification. This article summarizes the evaluation methods of islet β cell function，including oral glucose tolerance test，serum C-peptide and insulin production index，aiming to improve the ability to evaluate residual islet function in patients with type 1 diabetes，increase the level in identifying diabetes children，and provide better guidance to the treatment and follow-up of children with type 1 diabetes.

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Three cases of tricho-rhino-phalangeal syndrome type I in children ZHANG Dan-dan, ZHANG Hong, GAO Yi-qing, et al 2024, 39(11): 877-880.  DOI: 10.19538/j.ek2024110615 Abstract ( )   Clinical data of 3 children were collected， who were diagnosed with tricho-rhino-phalangeal syndrome（TRPS） type I at the Department of Endocrinology，Genetics，and Metabolism of Children's Hospital of Soochow University from September 2021 to February 2023，and the clinical and genetic characteristics were analyzed. All three patients exhibited short stature，sparse hair，special facial features and skeletal abnormalities. Patients 2 and 3 both had growth hormone deficiency. For short stature children with sparse hair，special facial features and skeletal malformations，it is necessary to be alert to TRPS and to complete genetic testing in time in clinical practice，  in order to achieve early diagnosis and to benefit long-term management of prognosis.