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06 October 2021, Volume 36 Issue 10 Previous Issue    Next Issue

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Diagnosis and treatment of epistaxis in children-clinical practice guidelines（2021） Pediatric Allergy Committee of China Association for Promotion of Health Science and Technology 2021, 36(10): 721-724.  DOI: 10.19538/j.ek2021100601 Abstract ( )

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Strengthen the three-level prevention and control of urea cycle disorders Rare Diseases committee of Beijing Medical Association, Division of Genetics and Metabolism, Child Diseases and Health Care Branch, Chinese Association for Maternal and Child Health, Society of Clinical Genetics and Biochemistry, Institute for Adolescence Medicine, Chinese Medical Doctor Association, et al 2021, 36(10): 725-730.  DOI: 10.19538/j.ek2021100602 Abstract ( )

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Newborn screening for urea cycle disorders HUANG Xin-wen, ZHANG Yu 2021, 36(10): 731-735.  DOI: 10.19538/j.ek2021100603 Abstract ( )   Urea cycle disorders（UCDs）are a group of inborn errors caused by the deficiency of enzymes or transporters in the process of urea cycle metabolism，which causes ammonia detoxification or arginine synthesis disorder. The most significant clinical manifestation is increased blood ammonia，50% of the patients has neonatal hyperammonemia，and the mortality rate is as high as 25%-50%. Early diagnosis before clinical onset can reduce or even avoid the occurrence of complications of hyperammonemia. Newborn screening is the best way to achieve early diagnosis and treatment and to improve prognosis. More diseases have been diagnosed in the early stage，since tandem mass spectrometry was introduced to newborn screening，but UCDs has not been completely included in the newborn screening program，and there are always arguments in the selection of disease types，screening timing，follow-up and monitoring programs.

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Identification and intervention of critical illness caused by urea cycle disorders LU Mei 2021, 36(10): 735-738.  DOI: 10.19538/j.ek2021100604 Abstract ( )   Urea cycle disorders（UCDs）are rare and severe disorders with non-specific symptoms. Acute encephalopathy caused by hyperammonemia occurs at any age，particularly in neonates. Under-recognition and delayed diagnosis of UCDs are common. The clinical manifestations，ammonia concentration，blood gas analyses，analysis of amino acids and acylcarnitines，brain MRI and intervention are reviewed in this article. Early identification，early diagnosis and early intervention can improve the prognosis of the nervous system.

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Pathophysiologic insights into neonatal intrahepatic cholestasis caused by Citrin deficiency: Focusing on the basolateral transporters Neonatal intrahepatic cholestasis caused by Citrin deficiency SONG Yuan-zong, LIU Rui 2021, 36(10): 738-741.  DOI: 10.19538/j.ek2021100605 Abstract ( )   Neonatal Intrahepatic Cholestasis caused by Citrin Deficiency（NICCD） is an hereditary metabolic metabolic disease resulting from biallelic mutations of SLC25A13 gene which encodes citrin protein in mitochondrial inner membrane. Energy shortage in hepatocytes is the key pathophysiology for citrin deficiency. Besides the various canalicular transporters，the function of a series of basolateral transporters of the hepatocyte including NTCP，mEH，OATPs，MRP3，MRP4 and Ostα/β may also be impaired by energy shortage，thus aggravating the biochemical manifestations of cholestasis in NICCD patients.

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Recognition and treatment for paralysis caused by argininemia DONG Hui, ZHANG Yao 2021, 36(10): 741-744.  DOI: 10.19538/j.ek2021100606 Abstract ( )   Argininemia is a rare，autosomal recessive urea cycle disorder caused by homozygous or compound heterozygous pathogenic variations of ARG1 gene，which lead to arginase 1 deficiency. The clinical manifestations of the patients with argininemia are complicated and nonspecific. The patients usually present with mental retardation，epileptic seizures， spastic paralysis and liver dysfunctions. Spastic paralysis could be the main or exclusive clinical symptom. Argininemia can be diagnosed by blood amino acids analysis，urine organic acids assay and gene test. Arginase assay is necessary for suspected cases. The treatment includes a protein-restricted diet，nitrogen-removing agents and liver transplantation. Liver transplantation is the method to cure argininemia.

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Diagnosis and treatment of ornithine transcarbamylase deficiency HAO Hu 2021, 36(10): 744-748.  DOI: 10.19538/j.ek2021100607 Abstract ( )   Ornithine transcarbamylase （OTC） deficiency，also known as hyperammonemia type Ⅱ，is the most common type of congenital urea cycle disorders.The main clinical manifestations of OTC deficient patients are hyperammonemia and neurological abnormalities.The OTC enzyme activity and the blood ammonia level at the onset determines the severity of its clinical manifestations and the prognosis.OTC deficiency may occur from infancy to adulthood. The onset of the disease may occur in the female with pathogenic variation，and it is critical in infancy，which progresses napidly with a poor prognosis and high mortality.This article mainly describes the diagnosis and treatment of OTC deficiency that occurs in childhood，in order to guide the early diagnosis and standard treatment of the disease，improve the prognosis of children，and reduce the death and disability rate

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Research advances in diagnosis and treatment of hyperinsulinemia-hyperammonemia syndrome SU Chang, GONG Chun-xiu 2021, 36(10): 748-752.  DOI: 10.19538/j.ek2021100608 Abstract ( )   Hyperinsulinism-hyperammonemia syndrome（HI/HA）is the second most common subtype of congenital hyperinsulinemia（HI）. Children with HI/HA syndrome have fasting and protein-sensitive hypoglycemia，accompanied with persistent hyperammonemia. GLUD1 mutations associated with glutamate dehydrogenase deficiency cause HI/HA syndrome. Glutamate dehydrogenase is expressed in liver，kidney，brain，and pancreas. Neurological damage is common in patients with HI/HA syndrome，even in the patients with normal blood glucose. Diazoxide，a KATP channel agonist，can well control hypoglycemia in HI/HA syndrome，but hyperammonemia cannot be improved.

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Diagnosis and treatment of hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome GUAN Han-zhou, ZHANG Gai-xiu, LIU Ke-zhan, et al 2021, 36(10): 752-755.  DOI: 10.19538/j.ek2021100609 Abstract ( )   Hyperornithinemia-hyperammonemia-homocitrullinuria（HHH）syndrome is a rare disorder of urea cycle defect. The clinical manifestations of the patients are nonspecific and the individual differences were significant. Clinical diagnosis of HHH syndrome is difficult. Biochemical and genetic analysis are keys to the diagnosis. In this article，the advance on pathogenesis，clinical manifestations，metabolic features，diagnosis and treatment of HHH syndrome is reviewed so as to improve to the understanding of this disease and provide reference for its clinical diagnosis and treatment.

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Neuropsychiatric damage in the patients with late-onset urea cycle disorders CHU Xu-jun , YANG Yan-ling, YUAN Yun 2021, 36(10): 756-758.  DOI: 10.19538/j.ek2021100610 Abstract ( )   Urea cycle disorders are rare inherited metabolic diseases caused by the decrease or loss of the activity of the enzymes or transporter in the urea cycle，resulting in hyperammonemia，encephalopathy and hepatopathy. Those diseases are preventable and treatable. The disease severity and onset age of the patients with urea cycle disorders depend on the residual enzyme activity，transporter function and the triggers. Most of the patients have the onset in childhood，and hyperammonemia usually appears in the neonatal period or infant period，resulting in severe brain damage or death. It was reported that more than 10% of the patients with urea cycle disorders had the onset after the age of 16 years. Varied neuropsychiatric manifestations were common initial or main symptoms in the late onset patients with partial urea cycle enzyme deficiencies. As reported，the mortality of late onset patients with urea cycle disorders was 11%. Early identification，early diagnosis and early treatment are keys to improving the outcome of the patients.

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Identification and treatment of acute and chronic liver diseases caused by urea cycle disorders QUAN Min, YANG Song 2021, 36(10): 758-762.  DOI: 10.19538/j.ek2021100611 Abstract ( )   The patients with urea cycle disorders（UCDs）may showed various biochemical abnormalities and liver injury. Liver injury might be the initial symptom of UCDs. Clinicians should be aware of UCDs，especially in the patients with idiopathic liver injury combined with neurological manifestation. Management of liver injury in the patients with UCDs should be based on the cause. Liver transplantation may improve liver function and cure UCDs. Animal studies of cell transplantation and gene therapies for UCDs showed good safety profiles and efficacy，which need to be verified in clinical trials.

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Identification and treatment of mental disorders caused by urea cycle disorders LIU Shi-xian, ZHANG Feng 2021, 36(10): 762-764.  DOI: 10.19538/j.ek2021100612 Abstract ( )   Urea circle disorders are genetic metabolic diseases characterized by hyperammonemia. The main clinical manifestations are nervous system symptoms and liver injury，it can also be manifested as psychotic behavior abnormality，including mental retardation，insanity，autism spectrum disorder，depression，anxiety or mania.Lowering ammonia levels in the blood is a key step in improving the mental abnormalities of urea circle disorder. This article reviews the mechanism，clinical identification，progress in treatment measures at home and abroad of mental disorders caused by urea circle disorders.

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Drug treatment for urea cycle disorders LI Min, CHEN Zhe-hui, ZHOU Ying, et al 2021, 36(10): 764-768.  DOI: 10.19538/j.ek2021100613 Abstract ( )   Congenital urea cycle disorders are severe inherited metabolic diseases caused by the enzyme deficiency with low morbidity and high mortality. Due to different pathogenic causes and personal conditions，the patients present with different clinical manifestations. About half of the patients with urea cycle disorders have hyperammonemia，which results in acute or chronic brain and liver damage. Individualized diet，ammonia lowering drugs or liver transplantation should be considered for the treatment. The main treatment principle of urea cycle disorders is to lower blood ammonia by reducing ammonia generation and promoting ammonia excretion. As the core drugs of urea cycle disorders，nitrogen scavengers consume the excess ammonia in the body by combining with glycine or glutacrylamide. The pharmacological action，pharmacokinetic characteristics and clinical study of nitrogen scavenger and other ammonia lowering drugs were reviewed in this paper in order to provide reference for rational clinical use of nitrogen scavenger.

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Liver transplantation treatment for urea cycle disorders SUN Li-ying, ZHU Zhi-jun 2021, 36(10): 768-771.  DOI: 10.19538/j.ek2021100614 Abstract ( )   Urea cycle disorders（UCDs），a group of genetic metabolic diseases，are caused by genetic defects in urea synthesis and related metabolic pathways，which lead to hyperammonemia and varied clinical manifestations. The severe cases of UCDs present coma，convulsions and even death.When the blood ammonia rises sharply，it can cause irreversible neurological damage. As a cure for this disease，liver transplantation should be performed as soon as possible prior to nervous injury to improve the prognosis.

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A comparative study of two classification criteria in a retrospective cohort of juvenile idiopathic inflammatory myopathy SUN Lei, LI Dong-mei, TANG Xue-mei 2021, 36(10): 772-777.  DOI: 10.19538/j.ek2021100615 Abstract ( )   Objective　To evaluate the classification ability of EULAR/ACR criteria and B/P criteria in a retrospective cohort of juvenile idiopathic inflammatory myopathy（JIIM）. Methods　Totally 189 children suspected with JIIM who were treated at Children’s Hospital of Chongqing Medical University form January 2010 to April 2020 were recruited. The children’s clinical manifestations，laboratory examinations，serological and histopathological data were collected，and with physician’s diagnosis as standard，the sensitivity of the EULAR/ACR and the B/P criteria was calculated. Results　There were 189 children，86 females and 103 males. The age of onset was 6 months to 17 years and 7 months （7.0±3.6）years. Among them，140 patients were finally diagnosed with JIIM ［JDM 130 cases（92.9%），ADM 5 cases（3.6%），JPM 5 cases（3.6%）］，and 49 patients were diagnosed as non-JIIM；the B/P criteria classified 117 patients （83.6%）as possible/definite JIIM，the EULAR/ACR criteria classified 121 Cases（86.4%）as possible/definite JIIM， and there was no statistically significant difference in the consistency test between the two classification criterias（κ＝0.497，P＜0.001）；in the subgroup classification of JIIM，the EULAR/ACR criteria could accurately classify 96 patients of JDM，sensitivity being 71.1%，and the B/P criteria could accurately classify 80 JDM patients with a sensitivity of 59.2%. The consistency between the two criteria was poor（κ＝0.366，P＜0.001）；EULAR/ ACR criteria was better than the B/P criteria and there was statistical difference（κ ＝0.366，P＜0.001）；25 children obtained complete muscle biopsy data and were positive，of which 24 cases （96.0%） could be classified according to the B/P criteria，while the EULAR/ACR criteria could only classify 22 of them（88.0%）；the sensitivity of the two criteria was compared by Chi-square Fisher’s exact test，and the difference was not statistically significant（P＞0.05）. Conclusion　The 2017 EULAR/ACR criteria shows higher sensitivity and classification rate in children with JIIM in China，especially in the JDM subgroup classification；in the cases of muscle biopsy，there was no statistical difference in the sensitivity of the two classification criteria.

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Clinical features and prognosis and follow-up of cyclic vomiting syndrome in children JIANG Yuan-yuan, LI Zhong-yue 2021, 36(10): 778-782.  DOI: 10.19538/j.ek2021100616 Abstract ( )   Objective　To analyze the clinical manifestations，lab findings，treatment and prognosis of children with cyclic vomiting syndrome（CVS） in order to improve the understancling and diagnosis and treatment level of cyclic vomiting syndrome. Methods　Retrospectively analyze the clinical data and follow-up results of 141 children with CVS admitted to our hospital from January 2008 to December 2019 who met the ROME IV diagnostic criteria. Results　Among the 141 children，65 were male and 76 were female. The median age at onset was 5.5 years（range：0-15.4 years），and the median age at diagnosis was 8.3 years（range：11months-15.7 years）. The average disease duration was 2.3 years（3 months-11.3 years），and the average hospitalization was 4 times. About 60.28%（85/141）of the patients had clear causes，and infection and improper diet were the most common causes. All cases had vomiting，and the median duration of each vomiting attack was 5 d（2 d-2w），with an average of about 15 vomiting attacks per day and a median interval of 38 d（5 d-6 m）. Other symptoms included abdominal pain（72.34%，102/141），nausea（46.81%，66/141），dizziness（30.50%，43/141），fever（26.24%，37/141），headache（19.86%，28/141），and constipation（19.15%，27/141）. All cases were given symptomatic supportive treatment such as fluid supplementation in the acute phase，and prophylactic treatment such as cyproheptadine，propranolol and sibiline in the interphase.Follow-up was performed in 88 patient for 1-10 years，and the treatment was effective in 92% of the patients. Nine patients still had headaches（one of them was diagnosed with migraine in another hospital），and 13 patients had abdominal pain. Conclusion　CVS is one of the common causes of vomiting in children.It can occur at all ages without obvious gender differences. There is usually an inducement before the attack and clinical diagnosis is often delayed. CVS can be recurrent，and in addition to vomiting，there are often other symptoms related to gastrointestinal or autonomic disorders. Cyproheptadine，propranolol，sibelium and other drugs are effective as preventive treatment for most patients who have a high frequency and long duration. The epidemiology，clinical manifestations and efficacy of these children with CVS are similar to those in other areas，but the incidence of migraine and abdominal pain during follow-up is significantly lower than foreign data.

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Phospholipase A2-associated neurodegenerative disease:A report of 5 cases and literature review in China ZHENG Xiao-lan, ZHOU Shui-zhen, LI Wen-hui 2021, 36(10): 783-788.  DOI: 10.19538/j.ek2021100617 Abstract ( )   Objective　To investigate the clinical phenotype and PLA2G6 genotypic characteristics of phospholipase A2- associated neurodegenerative disease（PLAN）in China. Methods　The clinical data of 5 cases of PLAN were retrospectively collected at Children’s Hospital of Fudan University from June 2016 to May 2019. Literature reports by Chinese scholars from January 2006 to March 2020 were retrieved from CKNI，Wanfang，WeiPu and pubmed databases with PLA2G6 and neurodegeneration with brain iron accumulation as the key words，and the characteristics of PLAN phenotype and genotype in China were analyzed. Results　（1）Our cases：All the five cases were infantile neuroaxonal dystrophy（INAD），and the median age of onset was 18 months. The initial symptoms of four cases were developmental regression and one was gait instability，One case had seizures，showing spasms and focal seizures. In neurological examinations，muscle strength of four cases was 1-4 grade and one was normal. One case revealed positive reflex of Babinski's sign. Four cases had active deep reflex and 1 case had hyperreflexia. Cerebellar atrophy was observed in 3 cases by cranial MRI. Three cases had neurogenic changes by electromyograms. Four cases were followed up. Their existing muscle strength was 0 to 3 grade，and 3 cases completely lost their speaking ability. All the 5 cases in this group had complex heterozygous variation of PLA2G6，and there were 10 different variations，of which missense variation accounted for 50%. Seven kinds of variants were not reported in human gene mutation database（HGMD）. （ 2）Literature review：A total of 12 articles were retrieved in 14 years，reporting 43 cases of PLAN in China，among which 36 cases（83.7%） were INAD，3 cases（7.0%） were atypical INAD，and 4 cases（9.3%） were PLAN -DP. Six cases（14.0%）had epilepsy，and five of them showed focal seizures or generalized tonic seizures. INAD was clinically diagnosed in 10 cases and 33 cases were definitely diagnosed by molecular genetics. A total of 49 variants of PLA2G6 gene were detected in these 43 cases，missense variation accounting for 55.1%（27）. Conclusion　INAD is the most common clinical phenotype of PLAN，and the main characteristic is that it has both peripheral and central nerve damage and it progresses rapidly. PLA2G6 is dominated by missense mutation，but no hot spot mutation sites have been found.There is no effective treatment currently.

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Analysis of serum vitamin A D E levels in children with picky eating behavior LI Na, WANG Lin, MA Li-juan, et al 2021, 36(10): 789-791.  DOI: 10.19538/j.ek2021100618 Abstract ( )   Objective　The aim of this study is to explore the correlation between serum vitamin A，D and E levels and children's picky eating problem. Methods　We collected clinical data of children over 2 years old who were hospitalized in the health care clinic of Capital Institute of including height，weight and other physical measurements. Their serum vitamin A and vitamin E levels were measured by high performance liquid chromatography（HPLC）and serum 25-（OH）D levels were measured by high performance liquid chromatography tandem mass spectrometry（HPLC-MS/MS）. The children were divided into healthy group and picky eating group.In data analysis，SPSS 21 software was employed to perform test of normality，chi-square test and logistic regression analysis，et al. Results　A total of 109 children were included including 71 children in the healthy control group and 38 children in the picky eating group. The vitamin E level of the control group was（8.51±2.29）mg/L，and that of the picky eating group was（7.55±1.62）mg/L，the difference was statistically significant（P＜0.05）. The weight-for-age Z-scores（WAZ），height-for-age Z-scores（HAZ）， BMI-for-age Z-scores（BAZ）were -（0.04±1.17），（0.18±1.05），-（0.25±1.24）respectively，while those of the picky eating group were -（0.95±0.99），-（0.35±0.92），-（1.14±1.43），respectively，with statistical significance（P＜0.05）. The deficient and insufficient constituent ratio of serum vitamin E in picky eating group was 50.0%，which was much higher than that of control group（23.9%），the difference was statistically significant （P＜0.05）. The proportions of serum vitamin A below normal level in the two groups were 31.0% and 28.9% and the proportions of serum 25-（OH）D below normal level were 68.0% and 58.8%，respectively. There were no significant differences between the two groups. Binary logistic regression analysis showed that picky eating had a significant impact on Vitamin E level（OR=0.773，95% CI：0.606-0.985），there was no significant effect on the level of vitamin A and 25-（OH）D（P＞0.05）. Conclusion　The vitamin E level of picky eating children was lower than that of healthy control group,and the deficient and insufficient ratio were high. Attention should be paid to the serum vitamin E level of children with picky eating behavior and dietary guidance.

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One case of atypical severe combined immune deficiency disease caused by JAK3 gene mutation and the literature review GAO Ting-ting, XIAN Yu-wei, WANG Da-hai, et al 2021, 36(10): 792-795.  DOI: 10.19538/j.ek2021100619 Abstract ( )

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Primary immunodeficiency disease and allergy ZHANG Wen-jing, ZHAO Xiao-dong, AN Yun-fei 2021, 36(10): 796-800.  DOI: 10.19538/j.ek2021100620 Abstract ( )