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06 October 2024, Volume 39 Issue 10 Previous Issue   

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Enteral tube feeding in patients receiving dietary treatment for metabolic diseases CHEN Jie 2024, 39(10): 721-725.  DOI: 10.19538/j.ek2024100601 Abstract ( )   Inherited metabolic diseases （IMD）， also known as congenital metabolic abnormalities （IEM）， refer to a class of single gene genetic diseases due to biochemical metabolic abnormalities that lead to multiple organ damage. For the treatment of IMD， although gene and enzyme replacement therapy have received much attention， the majority of effective treatment methods are nutritional interventions. Nutritional therapy is widely available and has excellent therapeutic effects， so it is crucial for the management of many IMD. The research and clinical practice of IMD nutritional therapy mostly focused on different dietary compositions， and the treatment goal is to maintain stable and normal metabolism. These diseases require continuous enteral feeding during the catabolic stage to provide sufficient energy to meet metabolic needs， and prevent decompensation related to protein hydrolysis and lipolysis. The treatment goal of IMD is to maintain metabolic stability and normalcy. ETF is a key method in treating these diseases in children. Regardless of the type of the disease， home Enteral tube feeding（ETF） programs have increasingly been implemented globally to improve the quality of life. However， there is almost no implementation of tube feeding for patients with IMD in our country， which should be taken seriously and implemented. In this article，a brief introduction is given to the basic concepts and technique of ETF.

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Nervonic acid and its application in the treatment of neurological disorders WANG Ning, CHEN Xian-yang, WANG Chao-dong 2024, 39(10): 726-730.  DOI: 10.19538/j.ek2024100602 Abstract ( )   Nervonic acid was first found in the nervous tissue of mammals and was named for it. In recent years，nervonic acid has been widely concerned by neurobiology and nutrition experts at home and abroad because of its unique role in nervous system development and disease prevention and treatment. Nervonic acid is the main component of human brain complex lipids. As a kind of ultra-long chain monouns-aturated fatty acid，it is the core component of the myelin sheath of brain nerve cells，and has the function of repairing damaged brain nerve fibers and promotes neuron regeneration. The lack of nervonic acid in the human body can lead to insomnia，forgetfulness，brain atrophy，white matter disease and other neurological diseases，which can be effectively alleviated by supplementation of nervonic acid. In addition，nervonic acid can also improve metabolic abnorm-alities and cardiovascular and cerebrovascular diseases， and enhance immunity. Therefore，nervonic acid is of great significance to human health，and has aroused the research interest of a great number of medical workers. This article will review the application of nervoinc acid in the treatment of nervous system diseases at home and abroad，and make a summary of it.

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Application of betaine in the prevention and treatment of metabolic disorders ZHANG Hui-ting, YANG Yan-ling 2024, 39(10): 730-734.  DOI: 10.19538/j.ek2024100603 Abstract ( )   Betaine is an important nutrient which has been widely used in animal nutritional support， and its value in human health is well recognized. Most of the betaine is ingested through food.It also can be converted by choline in the body. Betaine can maintain theosmotic pressure of the body's tissues， reduce plasma homocysteine levels and improve mitochondrial function， it is an important vitamin in the treatment of hyperhomocysteinemia. It is also effectire to prevent and treat obesity， insulin resistance， cardio-cerebrovascular diseases， fatty liver and renal failure. A number of studies have proved the important role of betaine in the prevention and treatment of metabolic disorders，and verified the safety of betaine. Betaine will have wide application prospects.

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Magnesium metabolism and treatment for hypomag-nesemia ZHANG Yao, YANG Yan-ling 2024, 39(10): 734-737.  DOI: 10.19538/j.ek2024100604 Abstract ( )   Magnesium is the second most abundant cation in human cells， involved in more than 600 enzymatic reactions in the body. It is mainly regulated by the gut， bone and kidney.Many acquired and genetic diseases can lead to hypomagnesemia. According to different literatures， the diagnostic criteria for hypomagnesemia are serum magnesium concentration below 0.75 mmol/L or 0.66 mmol/L.Hypomagnesemia can cause damage to brain， cardiovascular system， digestive system， kidney， endocrine， bone and other systems， and even lead to death. Early diagnosis， magnesium supplementation and etiological treatment are the keys to improving the prognosis of hypomagnesemia.

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Metabolic bone diseases and nutritional metabolic support ZHAO Ru-ping, ZHENG Hong, YANG Yan-ling 2024, 39(10): 737-741.  DOI: 10.19538/j.ek2024100605 Abstract ( )   Metabolic bone diseases are characterized by atyp-ical early onset complex clinical manifestations in the middle and late stages. The patients usually present with growth disorders，osteoarthropathy and skeletal deformities. Some patients have multiple organ damage with high disability and mortality. Early identification，correct diagnosis，rational treatment， and health management are important to improve the outcome of the patients with metabolic bone diseases. Nutritional and metabolic support is the key strategy for the prevention and treatment of metabolic bone diseases. Due to congenital and acquired defects，patients with metabolic bone diseases need individualized calcium，phosphorus，vitamin D，collagen and hormone support. Regular diet cannot meet the needs of patients，and special nutritional metabolic support is required for the treatment. The article will summarize and elaborate around the nutritional metabolic support of common metabolic bone diseases from their clinical manifestations and current research status.

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Pantothenic acid metabolism and pantothenic acid deficiency ZHANG Zhen-kun, YANG Yan-ling, LI Dong-xiao 2024, 39(10): 741-747.  DOI: 10.19538/j.ek2024100606 Abstract ( )   Pantothenic acid，also known as vitamin B5，is an essential vitamin for the biosynthesis of coenzyme A（CoA）and acyl carrier protein（ACP）in mammalian cells. It participates in the synthesis or catabolism of fatty acids，carbohydrates，cholesterol，acetylcholine and other metabolites through the synthesis of CoA and ACP. The absorption of pantothenic acid is dependent on a membrane transport system that is shared with other compounds，including biotins. Impairment of this transport system or its metabolic processes can result in mitochondrial dysfunction and metabolic disorders. At present，there is no established recommended intake volume for pantothenic acid. Although primary pantothenic acid deficiency is uncommon，  secondary pantothenic acid deficiency is common，such as in the patients with PANK2 gene mutations and mitochondrial diseases. Pantothenic acid deficiency can result in multi-system damage，and the clinical presentation is not specific. The pantothenic acid supplem-entation is helpful for the prevention and treatment of many rare and common diseases.

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Abnormal uridine metabolism and the diagnosis and treatment of developmental and epileptic encephalopathy 50 LI Dong-xiao, SHEN Ling-hua, ZHANG Jing-tao, et al 2024, 39(10): 747-751.  DOI: 10.19538/j.ek2024100607 Abstract ( )   Uridine，a pyrimidine nucleoside，is a key precursor in pyrimidine metabolism and is present in plasma and cerebrospinal fluid. Despite being a simple small molecule metabolite，it plays a crucial role in various biological processes，including macromolecule synthesis，circadian rhythm，inflammatory response，antioxidation，and aging.Abnormal uridine metabolism can lead to numerous diseases，primarily neuropsychiatric disorders， and some patients have orotic aciduria. Developmental and epileptic encephalopathy 50 is a rare autosomal recessive disorder caused by defects in the CAD gene，leading to decreased activity of the multifunctional enzyme complex（glutamine amidotransferase，carbamoyl-phosphate synthetase 2，dihydroorotase，and aspartate transcarbamylase，CAD）and impaired de novo synthesis of uridine-5'-monophosphate. The typical clinical triad includes refractory epilepsy，erythroblastopenia，and intellectual and motor developmental delay with regression.CAD gene analysis is crucial for diagnosis. Developmental and epileptic encephalopathy 50 is a treatable rare disease. Early diagnosis and oral uridine supplementation are keys to the good outcome. Without timely treatment，it can lead to progressive brain atrophy，poor prognosis，and even death.

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Phosphorus metabolism and phosphate homeostasis in children CHONG He-meng, XING Yu-tong, ZHANG Hui-feng 2024, 39(10): 752-755.  DOI: 10.19538/j.ek2024100608 Abstract ( )   Phosphorus is an abundant element in the body， which is essential to various key biological processes such as cell energy metabolism， cell signaling，bone mineralization，and maintenance of the internal environment of the body.Phosphate-dependent bone formation is particularly important in early life. Blood phosphorus is generally higher in children and gradually decreases from childhood through adolescence to low level in adulthood. Phosphorus homeostasis is maintained through complex phosphate exchanges between intestinal phosphate absorption，renal phosphate handling，and intracellular fluid and bone phosphate pools. Phosphorus-rich foods are abundant in nature，and dietary phosphorus is absorbed in the intestines，a process promoted by 1，25（OH）2 vitamin D， while parathyroid hormone and fibroblast growth factor 23 can inhibit renal tubular phosphate reabsorption，and increase urinary phosphate excretion， thus maintaining blood phosphorus fluctuation within the physiological range. Renal tubular phosphate reabsorption is crucial for phosphorus metabolism，and the calculation of renal phosphate threshold and tubular phosphate reabsorption is important for studying phosphorus homeostasis and identifying the causes of phosphorus metabolism disorders.

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Diagnosis and treatment of inherited hypophosphatemia related diseases in children ZHANG Ya-nan, XING Yu-tong, ZHANG Hui-feng 2024, 39(10): 756-759.  DOI: 10.19538/j.ek2024100609 Abstract ( )   In normal condition，because the dietary phosph-orus is rich，unlike calcium deficiency， human has no phosphorus deficiency caused by insufficient intake.Phosphorus deficiency in children is mostly caused by genetic diseases. Inherited hypophosphatemia related diseases in children mainly involve FGF23-mediated hypophosphatemia and non-FGF23-mediated hypophosphatemia. Clinical evalu-ation includes a thorough history investigation，physical examination，laboratory tests，genetic analysis，and imaging， in order to determine the etiology. The wide application of genetic technology has laid the foundation for accurate diagnosis of hypophosphatemia and hypophosphatemic rickets. Fibroblast growth factor 23 monoclonal antibody（Burosumab）has created conditions for targeted therapy of inherited hypophosphatemia related diseases in children.

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Tetrahydrobiopterin metabolism and the diagnosis and treatment of tetrahydrobiopterin deficiency SUN Meng, MU Jia-lin, LI Yu-lin, et al 2024, 39(10): 760-764.  DOI: 10.19538/j.ek2024100610 Abstract ( )   Tetrahydrobiopterin is involved in regulating the dynamic balance of many neurotransmitters，hormones and inflammatory factors in the body. It is an important coenzyme in the metabolic pathway of phenylalanine. Tetrahydrobio-pterin deficiency leads to reduced activity of phenylalanine hydroxylase， resulting in neuropsychiatric diseases and hyperphenylalaninemia. The common clinical manifestations of tetrahydrobiopterin deficiency are psychomotor retardation，abnormal muscle tone and convulsions. If there is no timely treatment，the prognosis is poor. This article describes the metabolism of tetrahydrobiopterin and the diagnosis and treatment of tetrahydrobiopterin deficiency，in order to improve knowledge and understanding of the disease，provide reference for clinical diagnosis and treatment，and further improve the outcome of the patients.

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Application of carglumic acid in the prevention and treatment of acute metabolic crisis of organic acid metabolism disease CHEN Zhe-hui, LU Mei 2024, 39(10): 764-767.  DOI: 10.19538/j.ek2024100611 Abstract ( )   Acute metabolic crises in the patients with organic acidemias are critical conditions of inherited metabolic disorders，where the severity of hyperammonemia directly associates with the prognosis. Except for restricting protein intake to reduce ammonia generation，maintaining adequate energy supply is important to prevent exacerbation of hyperammonemia due to increased breakdown of endogenous proteins. Correction of the underlying metabolic disturbances is also necessary. Carglumic acid，a synthetic analogue of N-acetylglutamate，can increase substrates for the urea cycle，restarting the urea cycle and accelerating ammonia metabolism. This article summarizes the application of carglumic acid in the management of acute metabolic crises due to organic acidemia，providing insights for clinical treatment.

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Predictive factors of severe acute pancreatitis in children FANG Yong-li, WU Jie, QIN Xiu-min, et al 2024, 39(10): 768-773.  DOI: 10.19538/j.ek2024100612 Abstract ( )   Objective    To find valuable clinical indicators for severe acute pancreatitis（SAP）and establish a predictive model for SAP. Methods    A total of 172 patients with acute pancreatitis diagnosed in Beijing Children's Hospital Affiliated to Capital Medical University from January 2016 to June 2022 were enrolled.According to the Chinese guidelines for the diagnosis and treatment of pancreatitis（2019·Shenyang），the 172 patients were divided into SAP group（43 cases）and non-severe acute pancreatitis（NSAP）group（129 cases）. The general data ［gender，age，body mass index（BMI），onset time，etiology，signs，hospitalization time，prognosis］，laboratory indicators［blood routine，C-reactive protein（CRP），blood biochemistry，coagulation function，procalcitonin，erythrocyte sedimentation rate，etc.］ and imaging examination（pancreatic swelling，peripancreatic effusion，pleural effusion，ascites depth，etc.）of the two groups were compared. Compare the clinical indicators with statistically significant differences between the two groups.Multivariate Logistic regression analysis was performed on these indicators to screen out independent factors for predicting SAP.A Logistic regression model was established and its ability to predict SAP was evaluated by plotting the ROC curve and calculating the area under the curve. Results    In all the 172 patients，63 cases（36.6%）had improper diet，23 cases（13.4%）had pancreaticobiliary dysplasia，and 12 cases had gene mutations. Totally 170 cases（98.8%）had abdominal pain，and the SAP group was more likely to have fever，nausea，vomiting，abdominal distension and nervous system manifestations such as drowsiness and irritability.SAP group had higher values of white blood cell（WBC），neutrophil，lymphocyte，neutrophil-lymphocyte ratio（NLR），hemoglobin，and red blood cell distribution width（RDW）in blood routine；SAP group had higher blood urea nitrogen，creatinine，blood glucose，cholesterol，triglyceride，lactate dehydrogenase（LDH），alanine aminotransferase and aspartate aminotransferase， and lower albumin and blood calcium levels in blood biochemistry；SAP group had longer PT and APTT，and higher D-dimer levels in coagulation function；SAP group had higher CRP and procalcitonin levels，and faster erythrocyte sedimentation rate in inflammatory indicators. There were statistically significant differences in the abnormal rates of pancreatic swelling，ascites depth，pleural effusion，and peripancreatic effusion between the two groups.The incidence of pancreatic pseudocyst was higher in the late stage in the SAP group.Logistic regression analysis showed that CRP，WBC，RDW and LDH were independent predictors of SAP，logit（P）=-19.151+0.043 CRP（mg/L）+0.295WBC（×109/L）+0.007LDH（U/L）+0.694RDW（%）.The area under the curve（AUC）of the prediction model was 0.987（95% confidence interval was 0.973-1.000）. Conclusion    CRP，WBC，RDW and LDH can be used as independent predictors of SAP.The established model can predict the incidence of acute severe pancreatitis，which is helpful for clinicians to make early intervention and treatment.

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Clinical significance of lactate dehydrogenase level in cerebrospinal fluid in children with purulent meningitis MI Yu-mei, LIU Juan-juan, ZHOU Jin-si, et al 2024, 39(10): 774-778.  DOI: 10.19538/j.ek2024100613 Abstract ( )   Objective    To retrospectively study the level of lactate dehydrogenase（LDH）in cerebrospinal fluid（CSF），the pathogenic bacteria and the prognosis of children with purulent meningitis， and analyze the value of LDH level in predicting intracranial complications， in order to guide clinical diagnosis and treatment. Methods    The clinical data of 213 children aged 0-14 years，who were admitted to Children's Hospital，Zhejiang University School of Medicine between January 2016 and December 2018，were retrospectively analyzed.The children were categorized into different groups based on the type of pathogenic bacteria and recent incidence of intracranial complications. Subsequently，the differences in LDH levels in CSF among the groups were analyzed. The value of LDH in predicting intracranial complications was assessed using ROC curve analysis. Results    Out of the 213 children，90 had unknown pathogens and there were 123 tested positive for pathogen detection， including 59（48.0%）cases of Gram-positive（G +）bacteria and 64（52.0%）cases of Gram-negative（G-）bacteria.Among the children，122（57.3%）were successfully cured without any complications，while 91（42.7%）had complications， of whom 11（5.2%）died. The CSF-LDH level was significantly higher in children with intracranial complications than in those without complications （Z = -9.125， P<0.001）. The LDH level in the CSF was also statistically different in predicting the occurrence of intracranial complications （OR = 1.004， 95% CI 1.006-1.012， P<0.001）. The children in the death group had significantly higher LDH levels in their CSF compared to children with complications but survived （Z = -4.066， P<0.001）， with a significant difference in predicting the occurrence of death （OR = 1.002， 95% CI 1.001-1.004， P<0.001）. Furthermore， among children in the complication group， those aged ≥ 1 y had higher LDH level in their CSF compared to those aged <3 m and 3 m to <1 y （Z = -2.405， -2.927， P < 0.05， respectively）. There was no significant difference in LDH levels in the CSF between children with G+ bacterial infections and those with G- bacterial infections （Z = -1.805， P>0.05）. Receiver operating characteristic （ROC） curves were drown based on LDH， PRO， and GLU  concentrations in the CSF of children with or without complications during the acute phase， and the AUC values were 0.866， 0.790， and 0.742， respectively. LDH level showed higher predictive efficiency for intracranial complications compared to PRO and GLU （Z = 2.52 and 3.45， both P<0.05）， while PRO and GLU did not significantly differ in predictive efficiency （Z = 1.22， P>0.05）. Conclusion    The level of LDH in CSF of children with purulent meningitis at the early stage is related to the short-term prognosis.The higher the level，the higher the incidence of intracranial complications.

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Effectiveness and tolerability of adjunctive perampanel in children with epilepsy：A single center retrospective study YI Jia-qin, SUN Dan 2024, 39(10): 779-784.  DOI: 10.19538/j.ek2024100614 Abstract ( )   Objective    To investigate the 6-month efficacy，safety and tolerability of adjunctive perampanel in children with epilepsy and compare those differences in older（≥7）and younger（<7）age groups. Methods    Children who were diagnosed with epilepsy and treated with perampanel in Wuhan Chlidren’s Hospital from June 2020 to January 2022 were included in this retrospective study.Effectiveness，safety and tolerability of perampanel between different age goups at 6 months were compared.The single or multivariate logistic regression analysis were used to analyze baseline factors affecting efficacy in duration of epilepsy，number of ASMs，final daily dose of perampanel，baseline seizure frequency and structural etiology. Results    A total of 128 children were enrolled.99 children still were treated with perampanel at 6 months， The retention rate were 77.3%（99/128），and 50% responder rate and seizure freedom rate were 47.6（61/128） and 20.3%（26/128）. No significant differences in effectiveness were found between two age groups. Adverse events were 22.7%（29/128）. No correlation was found between the efficacy and intellectual disability，duration of epilepsy，number of ASMs，final daily dose of perampanel，baseline seizure frequency and structural etiology. Conclusion    Perampanel was efficacious and generally well-tolerated as an add-on treatment for children.No differences were found between age group and no effectiveness-related factors were found.

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Research progress of different evaluation methods of disease activity in children with Crohn's disease DENG Wen, LI Zhong-yue 2024, 39(10): 785-791.  DOI: 10.19538/j.ek2024100615 Abstract ( )   Crohn's disease is a chronic granulomatous inflammatory disease involving the whole intestine.Children's clinical manifestations of CD are diverse，characterized by alternating active period and remission period，which have the tendency of lifelong recurrence.With the development，the quality of life of patients can be affectedseriously.Pediatricians have to evaluate the disease activity through the clinical feature，imaging findings，endoscopy and laboratory indicators，which is of great significance for the treatments.The Objectiveof this paper is to review and summarize the progress of different types of evaluation methods，in order to provide reference for rational clinical intervention and long-term monitoring of diseases.

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Epilepsy caused by RAB11B gene mutation: A case report CHAI Ying-ying, LIN Wen-xin, HUANG Ting-ting, et al 2024, 39(10): 792-795.  DOI: 10.19538/j.ek2024100616 Abstract ( )   Epilepsy is a chronic neurological disease caused by the abnormal discharge of neurons in the brain， and its etiology is complex and diverse， among which hereditary factors are an important cause of primary epilepsy. At present， nearly 30 pathogenic genes related to epilepsy and epilepsy syndrome have been found， such as SCN1A， KCNA1， KCNQ and so on. In clinical practice， the author found an RAB11 B gene c.130A>G; p.I44V mutation in a child with epilepsy by familial whole exon detection. In this paper， this gene mutation causing epilepsy was preliminarily discussed.

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Pyridox （am）ine-5'-phosphate oxidase deficiency: A case report and literature review SHEN Lei-lei, WAN Shao-you, CHEN Sheng 2024, 39(10): 796-800.  DOI: 10.19538/j.ek2024100617 Abstract ( )   The clinical data of a child with Pyridox （am）ine-5'-phosphate oxidase （PNPO） deficiency admitted to the First Affiliated Hospital of Army Medical University in August 2022 were retrospectively analyzed， and relevant literature was retrieved and reviewed.The child was a male with a gestational age of 34 weeks 4 days， and presented with refractory convulsion with myoclonic seizures in less than 24 hours after birth， with the electroencephalogram showing a violently inhibitory pattern， and the presence of a compound heterozygous variant of the PNPO gene was confirmed by genetic analysis: c.448_451del paternal origin and c.558_561del maternal origin. For early neonatal seizures with poor outcome on conventional antiepileptic therapy， the possibility of the disease should be considered， and confirmation of the diagnosis relies on genetic testing.