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    EXPERT COMMENTARY
  • ● EXPERT COMMENTARY
    Significance and application of quality improvement in clinical medicine
    LI Zheng-Hong
    2024, 26(3): 219-223. https://doi.org/10.7499/j.issn.1008-8830.2309009
    Abstract ( ) PDF ( ) HTML   Knowledge map   Save
    Quality improvement is a methodology which was initially developed and employed in the field of industrial manufacturing. This approach involves implementing a series of interventions aimed at elevating the existing quality standards to a higher level. In daily medical work, there are often spontaneous quality improvements. Medical quality improvements supported by scientific methodology can evaluate medical quality more scientifically and provide objective feedback on the quality of medical work for healthcare professionals. This article provides a concise introduction to quality improvement and shows its application and significance in the field of clinical medicine through examples.
    • SERIES LECTURE—STANDARDIZED DIAGNOSIS AND TREATMENT OF SHORT STATURE IN CHILDREN
  • ● SERIES LECTURE—STANDARDIZED DIAGNOSIS AND TREATMENT OF SHORT STATURE IN CHILDREN
    Management of transition growth hormone deficiency
    CHENG Sheng-Quan
    2024, 26(3): 224-229. https://doi.org/10.7499/j.issn.1008-8830.2309173
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    With an increasing understanding of growth hormone deficiency, there has been a growing emphasis on the management of transition growth hormone deficiency (TGHD) in clinical practice. The inadequate diagnosis and treatment of TGHD have been a major clinical concern, leading to the development of relevant guidelines and consensus internationally. This article summarizes the evaluation, diagnosis, treatment, and clinical challenges of TGHD based on these guidelines, consensus, and existing clinical studies, aiming to optimize and further improve the clinical diagnosis, treatment, and management of TGHD.
    • CLINICAL RESEARCH
  • ● CLINICAL RESEARCH
    Risk factors for cow's milk protein allergy in infants: a multicenter prospective nested case-control study
    HOU Lin, MA Zi-Jun, CHAO Shuang, LI Zhong-Yuan, ZHANG Yu, LIU Yi-Jian, ZHANG Jun-Hong, WU Wen-Yan, HUANG Shan-Ya-Mei, LIU Jie
    2024, 26(3): 230-235. https://doi.org/10.7499/j.issn.1008-8830.2309105
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    Objective To explore the risk factors associated with cow's milk protein allergy (CMPA) in infants. Methods This study was a multicenter prospective nested case-control study conducted in seven medical centers in Beijing, China. Infants aged 0-12 months were included, with 200 cases of CMPA infants and 799 control infants without CMPA. Univariate and multivariate logistic regression analyses were used to investigate the risk factors for the occurrence of CMPA. Results Univariate logistic regression analysis showed that preterm birth, low birth weight, birth from the first pregnancy, firstborn, spring birth, summer birth, mixed/artificial feeding, and parental history of allergic diseases were associated with an increased risk of CMPA in infants (P<0.05). Multivariate logistic regression analysis revealed that firstborn (OR=1.89, 95%CI: 1.14-3.13), spring birth (OR=3.42, 95%CI: 1.70-6.58), summer birth (OR=2.29, 95%CI: 1.22-4.27), mixed/artificial feeding (OR=1.57, 95%CI: 1.10-2.26), parental history of allergies (OR=2.13, 95%CI: 1.51-3.02), and both parents having allergies (OR=3.15, 95%CI: 1.78-5.56) were risk factors for CMPA in infants (P<0.05). Conclusions Firstborn, spring birth, summer birth, mixed/artificial feeding, and a family history of allergies are associated with an increased risk of CMPA in infants.
  • ● CLINICAL RESEARCH
    Specific changes in gut microbiota and short-chain fatty acid levels in infants with cow's milk protein allergy
    YU Zhi-Dan, YUE Ling-Ling, WANG Zi-Hui, WANG Rui-Zi, LI Li-Feng, ZHANG Wan-Cun, LI Xiao-Qin
    2024, 26(3): 236-243. https://doi.org/10.7499/j.issn.1008-8830.2308007
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    Objective To explore the changes in gut microbiota and levels of short-chain fatty acids (SCFA) in infants with cow's milk protein allergy (CMPA), and to clarify their role in CMPA. Methods A total of 25 infants diagnosed with CMPA at Children's Hospital Affiliated to Zhengzhou University from August 2019 to August 2020 were enrolled as the CMPA group, and 25 healthy infants were selected as the control group. Fecal samples (200 mg) were collected from both groups and subjected to 16S rDNA high-throughput sequencing technology and liquid chromatography-mass spectrometry to analyze the changes in gut microbial composition and metabolites. Microbial diversity was analyzed in conjunction with metabolites. Results Compared to the control group, the CMPA group showed altered gut microbial structure and significantly increased α-diversity (P<0.001). The abundance of Firmicutes, Clostridiales and Bacteroidetes was significantly decreased, while the abundance of Sphingomonadaceae, Clostridiaceae_1 and Mycoplasmataceae was significantly increased in the CMPA group compared to the control group (P<0.001). Metabolomic analysis revealed reduced levels of acetic acid, butyric acid, and isovaleric acid in the CMPA group compared to the control group, and the levels of the metabolites were positively correlated with the abundance of SCFA-producing bacteria such as Faecalibacterium and Roseburia (P<0.05). Conclusions CMPA infants have alterations in gut microbial structure, increased microbial diversity, and decreased levels of SCFA, which may contribute to increased intestinal inflammation.
  • ● CLINICAL RESEARCH
    Effects of antenatal corticosteroid therapy in pregnant women on the brain development of preterm infants as assessed by amplitude-integrated electroencephalography
    WU Di, JU Jun, CHANG He-Sheng
    2024, 26(3): 244-249. https://doi.org/10.7499/j.issn.1008-8830.2309148
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    Objective To investigate the effects of antenatal corticosteroid (ACS) therapy in pregnant women on the brain development of preterm infants using amplitude-integrated electroencephalography (aEEG). Methods A retrospective analysis was conducted on 211 preterm infants with a gestational age of 28 to 34+6 weeks. The infants were divided into an ACS group (131 cases) and a control group (80 cases) based on whether antenatal dexamethasone was given for promoting fetal lung maturity. The first aEEG monitoring (referred to as aEEG1) was performed within 24 hours after birth, and the second aEEG monitoring (referred to as aEEG2) was performed between 5 to 7 days after birth. The aEEG results were compared between the two groups. Results In preterm infants with a gestational age of 28 to 31+6 weeks, the ACS group showed a more mature periodic pattern and higher lower amplitude boundary in aEEG1 compared to the control group (P<0.05). In preterm infants with a gestational age of 32 to 33+6 weeks and 34 to 34+6 weeks, the ACS group showed a higher proportion of continuous patterns, more mature periodic patterns and higher Burdjalov scores in aEEG1 (P<0.05). And the ACS group exhibited a higher proportion of continuous patterns, more mature periodic patterns, higher lower amplitude boundaries, narrower bandwidths, and higher Burdjalov scores in aEEG2 (P<0.05). Conclusions ACS-treated preterm infants have more mature aEEG patterns compared to those not treated with ACS, suggesting a beneficial effect of ACS on the brain development of preterm infants.
  • ● CLINICAL RESEARCH
    A cross-sectional survey of delivery room transitional care management for very/extremely preterm infants in 24 hospitals in Shenzhen City
    Shenzhen Neonatal Data Network
    2024, 26(3): 250-257. https://doi.org/10.7499/j.issn.1008-8830.2308017
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    Objective To investigate the current status of delivery room transitional care management for very/extremely preterm infants in Shenzhen City. Methods A cross-sectional survey was conducted in November 2022, involving 24 tertiary hospitals participating in the Shenzhen Neonatal Data Network. The survey assessed the implementation of transitional care management in the delivery room, including prenatal preparation, delivery room resuscitation, and post-resuscitation management in the neonatal intensive care unit. Very/extremely preterm infants were divided into four groups based on gestational age: <26 weeks, 26-28+6 weeks, 29-30+6 weeks, and 31-31+6 weeks. Descriptive analysis was performed on the results. Results A total of 140 very/extremely preterm infants were included, with 10 cases in the <26 weeks group, 45 cases in the 26-28+6 weeks group, 49 cases in the 29-30+6 weeks group, and 36 cases in the 31-31+6 weeks group. Among these infants, 99 (70.7%) received prenatal counseling, predominantly provided by obstetricians (79.8%). The main personnel involved in resuscitation during delivery were midwives (96.4%) and neonatal resident physicians (62.1%). Delayed cord clamping was performed in 52 cases (37.1%), with an average delay time of (45±17) seconds. Postnatal radiant warmer was used in 137 cases (97.9%) for thermoregulation. Positive pressure ventilation was required in 110 cases (78.6%), with 67 cases (60.9%) using T-piece resuscitators and 42 cases (38.2%) using a blended oxygen device. Blood oxygen saturation was monitored during resuscitation in 119 cases (85.0%). The median time from initiating transitional care measures to closing the incubator door was 87 minutes. Conclusions The implementation of delivery room transitional care management for very/extremely preterm infants in the hospitals participating in the Shenzhen Neonatal Data Network shows varying degrees of deviation from the corresponding expert consensus in China. It is necessary to bridge the gap through continuous quality improvement and multicenter collaboration to improve the quality of the transitional care management and outcomes in very/extremely preterm infants.
  • ● CLINICAL RESEARCH
    Screening for Duchenne muscular dystrophy in newborns in the Ningxia region
    JING Miao, WANG Yue, JING Xiao-Ying, MAO Xin-Mei
    2024, 26(3): 258-261. https://doi.org/10.7499/j.issn.1008-8830.2309151
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    Objective To evaluate the incidence rate of Duchenne muscular dystrophy (DMD) in the male newborns in the Ningxia region and establish a critical threshold for screening DMD in newborns to distinguish between the normal population and affected individuals. Methods A total of 10 000 male newborns were screened using immunofluorescence analysis of creatine kinase isoenzyme concentrations in heel spot dried blood specimens. Newborns with the concentrations higher than the critical threshold were recalled for serum creatine kinase measurements. Genetic testing was performed to confirm diagnosis in cases showing abnormalities. Results Among the screened 10 000 male newborns, two were confirmed to have DMD through genetic testing, resulting in a preliminary estimated incidence rate of 1/5 000 for male newborns in the Ningxia region. The critical threshold for creatine kinase isoenzyme concentration in newborns in this region was determined to be 468.57 ng/mL. Conclusions Screening for DMD in newborns is feasible in the Ningxia region. Early screening, diagnosis, and treatment of DMD can improve the quality of life for affected individuals and help families make informed decisions regarding further pregnancies.
  • ● CLINICAL RESEARCH
    Factors influencing the occurrence of small for gestational age at different degrees
    ZHANG Yi-Min, SHAO Shu-Ming, YU Chen, ZHANG Xiao-Rui, LIU Zheng, LI Yang-Yang, QIN Jiong
    2024, 26(3): 262-268. https://doi.org/10.7499/j.issn.1008-8830.2308057
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    Objective To investigate the factors influencing the occurrence of small for gestational age (SGA) at different degrees and provide a basis for early identification of severe SGA cases. Methods Neonatal and maternal prenatal information were retrospectively collected from January 2018 to December 2022 at Peking University People's Hospital. The neonates were divided into three groups: severe SGA group (birth weight below the 3rd percentile for gestational age and sex), mild SGA group (birth weight ≥3rd percentile and <10th percentile), and non-SGA group (birth weight ≥10th percentile). An ordered multinomial logistic regression model was used to analyze the factors influencing the occurrence of SGA at different degrees. Results A total of 14 821 neonates were included, including 258 cases (1.74%) in the severe SGA group, 902 cases (6.09%) in the mild SGA group, and 13 661 cases (92.17%) in the non-SGA group. The proportions of preterm births and stillbirths were higher in the severe SGA group compared to the mild SGA and non-SGA groups (P<0.0125). The proportion of neonatal asphyxia was higher in both the severe SGA and mild SGA groups compared to the non-SGA group (P<0.0125). Ordered multinomial logistic regression analysis showed that maternal pre-pregnancy underweight (OR=1.838), maternal pre-pregnancy obesity (OR=3.024), in vitro fertilization-embryo transfer (OR=2.649), preeclampsia (OR=1.743), connective tissue disease during pregnancy (OR=1.795), nuchal cord (OR=1.213), oligohydramnios (OR=1.848), and intrauterine growth restriction (OR=27.691) were all associated with a higher risk of severe SGA (P<0.05). Maternal parity as a multipara (OR=0.457) was associated with a lower likelihood of severe SGA (P<0.05). Conclusions Maternal pre-pregnancy underweight, maternal pre-pregnancy obesity, in vitro fertilization-embryo transfer, preeclampsia, connective tissue disease during pregnancy, oligohydramnios, nuchal cord, and intrauterine growth restriction are closely related to the occurrence of more severe SGA. Maternal parity as a multipara acts as a protective factor against the occurrence of severe SGA.
  • ● CLINICAL RESEARCH
    Clinical study on growth impairment induced by oral glucocorticoids based on FGF23/Klotho homeostasis observations
    TANG Shuai, YANG Yang, LI Xiang, BIE Bing-Yang, ZHANG Jian
    2024, 26(3): 269-274. https://doi.org/10.7499/j.issn.1008-8830.2309160
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    Objective To observe the correlation between growth impairment induced by long-term oral glucocorticoids (GC) therapy and the ratio of FGF23/Klotho in children with primary nephrotic syndrome (PNS). Methods A prospective study was conducted on 56 children with GC-sensitive PNS who had discontinued GC therapy for more than 3 months and revisited the Department of Pediatrics of the First Affiliated Hospital of Henan University of Traditional Chinese Medicine between June 2022 and December 2022. After monitoring qualitative and quantitative urine protein levels upon admission, the children with proteinuria relapse were treated with GC (GC group; n=29), while those without relapse did not receive GC treatment (non-GC group; n=27). In addition, 29 healthy children aged 3 to prepuberty were selected as the control group. Height, bone age, growth rate, and the FGF23/Klotho ratio were compared among the groups. The correlations of the FGF23/Klotho ratio with height, bone age, and growth rate were analyzed. Results The FGF23/Klotho ratio in the GC group was significantly higher than that in the non-GC group after 1 month of GC therapy (P<0.05), and the height and bone age growth rates within 6 months were lower than those in the non-GC group (P<0.05). Correlation analysis showed significant negative correlations between the FGF23/Klotho ratio after 1 month of treatment and the growth rates of height and bone age within 6 months in children with PNS (r=-0.356 and -0.436, respectively; P<0.05). Conclusions The disturbance in FGF23/Klotho homeostasis is one of the mechanisms underlying the growth impairment caused by long-term oral GC therapy.
  • ● CLINICAL RESEARCH
    Correlation of nutritional status with clinical characteristics and lung function in children with cystic fibrosis
    LI Dong-Dan, SHEN Yue-Lin, WANG Mei-Chen, YANG Wen-Li, XIA Lu-Lu, ZHANG Yu-Qing, ZHAO Shun-Ying, YAN Jie
    2024, 26(3): 275-281. https://doi.org/10.7499/j.issn.1008-8830.2308075
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    Objective To investigate the nutritional status of children with cystic fibrosis (CF) and understand the correlation between malnutrition and clinical characteristics as well as lung function. Methods A retrospective analysis was performed on clinical data of CF children admitted from January 2016 to June 2023. Clinical characteristics of CF children with different nutritional statuses were compared, and the correlation between malnutrition and lung function was analyzed. Results A total of 52 CF children were included, comprising 25 boys (48%) and 27 girls (52%), aged between 7 months and 17 years. Respiratory symptoms were the predominant clinical manifestations (96%, 50/52). The prevalence of malnutrition was 65% (34/52), with moderate/severe malnutrition being the most common (65%, 22/34). The malnutrition group had a longer duration of illness, higher proportion of digestive system symptoms, and lower levels of serum albumin (P<0.05). Pulmonary function parameters, including forced expiratory volume in one second as a percentage of the predicted value, ratio of forced expiratory volume in one second to forced vital capacity, forced expiratory flow at 25% of forced vital capacity exhaled, forced expiratory flow at 50% of forced vital capacity exhaled, forced expiratory flow at 75% of forced vital capacity exhaled, and maximum mid-expiratory flow as a percentage of the predicted value, were lower in the malnutrition group compared to the normal nutrition group (P<0.05). Correlation analysis showed body mass index Z-score was positively correlated with the above six pulmonary function parameters (P<0.05). Conclusions The prevalence of malnutrition is high in CF children and is associated with decreased lung function. CF children with higher body mass index have better lung function. Therefore, screening and evaluation of nutritional status as well as appropriate nutritional intervention should be emphasized in CF children.
    • EXPERIMENTAL RESEARCH
  • ● EXPERIMENTAL RESEARCH
    Different concentrations of adapalene induce differentiation and apoptosis of SH-SY5Y cells
    LIU Na-Na, ZHANG Jun-Jiao, ZHANG Fan, WU Cong-Ying, JIANG Yu-Wu
    2024, 26(3): 282-288. https://doi.org/10.7499/j.issn.1008-8830.2310100
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    Objective To investigate the effects of different concentrations of adapalene on the morphology and functions of neuroblastoma cell line SH-SY5Y, as well as its role in inducing cell differentiation and apoptosis. Methods SH-SY5Y cells were divided into control group, low concentration (0.1 μM and 1 μM) adapalene groups, and high concentration (10 μM) adapalene group. Time-lapse microscopy was used to observe the morphological changes of SH-SY5Y cells. Immunofluorescence staining was performed to detect the expression of neuronal specific marker βIII-tubulin and mature neuronal marker neurofilament heavy polypeptide (NFH). Multi-electrode array was used to record the electrophysiological features of SH-SY5Y cells. Cell apoptosis was evaluated using a cell apoptosis detection kit. Results Low concentrations of adapalene promoted the formation of neurite outgrowth in SH-SY5Y cells, with the neurites interconnected to form a network. Spontaneous discharge activity was observed in SH-SY5Y cells treated with low concentrations of adapalene. Compared to the control group, the expression of βIII-tubulin and NFH increased in the 1 μM adapalene group, while the level of cell apoptosis increased in the high concentration adapalene group (P<0.05). Conclusions Low concentrations of adapalene can induce differentiation of SH-SY5Y cells into mature functional neurons, while high concentrations of adapalene can induce apoptosis in SH-SY5Y cells.
  • ● EXPERIMENTAL RESEARCH
    Functional MRI assessment of microstructural and perfusion changes in the kidneys of rats with intrauterine growth restriction
    LIANG Can, LI Ying, HE Xiao-Ri
    2024, 26(3): 289-296. https://doi.org/10.7499/j.issn.1008-8830.2309004
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    Objective To explore the value of functional magnetic resonance imaging (MRI) techniques, including intravoxel incoherent motion (IVIM), T1 mapping, and T2 mapping, in assessing the microstructural and perfusion changes in the kidneys of rats with intrauterine growth restriction (IUGR). Methods An IUGR rat model was established through a low-protein diet during pregnancy. Offspring from pregnant rats on a low-protein diet were randomly divided into an IUGR 8-week group and an IUGR 12-week group, while offspring from pregnant rats on a normal diet were divided into a normal 8-week group and a normal 12-week group (n=8 for each group). The apparent diffusion coefficient (ADC), true diffusion coefficient (Dt), pseudo-diffusion coefficient (D*), perfusion fraction (f), T1 value, and T2 value of the renal cortex and medulla were compared, along with serum creatinine and blood urea nitrogen levels among the groups. Results The Dt value in the renal medulla was higher in the IUGR 12-week group than in the IUGR 8-week group, and the D* value in the renal medulla was lower in the IUGR 12-week group than in both the normal 12-week group and the IUGR 8-week group (P<0.05). The T1 value in the renal medulla was higher than in the cortex in the IUGR 8-week group, and the T1 value in the renal medulla was higher in the IUGR 12-week group than in both the IUGR 8-week group and the normal 12-week group, with the cortical T1 value in the IUGR 12-week group also being higher than that in the normal 12-week group (P<0.05). The T2 values in the renal medulla were higher than those in the cortex across all groups (P<0.05). There were no significant differences in the T2 values of either the cortex or medulla among the groups (P>0.05). There were no significant differences in serum creatinine and blood urea nitrogen levels among the groups (P>0.05). Glomerular hyperplasia and hypertrophy without significant fibrotic changes were observed in the IUGR 8-week group, whereas glomerular atrophy, cystic stenosis, and interstitial inflammatory infiltration and fibrosis were seen in the IUGR 12-week group. Conclusions IVIM MRI can be used to assess and dynamically observe the microstructural and perfusion damage in the kidneys of IUGR rats. MRI T1 mapping can be used to evaluate kidney damage in IUGR rats, and the combination of MRI T1 mapping and T2 mapping can further differentiate renal fibrosis in IUGR rats.
    • REVIEW
  • ● REVIEW
    Preventive early intervention strategies for neurodevelopmental disorders of high-risk infants
    NONG Shao-Han, YU Wei-Hong, LI Cui-Hong, ZHOU Xiao-Guang
    2024, 26(3): 297-301. https://doi.org/10.7499/j.issn.1008-8830.2310107
    Abstract ( ) PDF ( ) HTML   Knowledge map   Save
    Neurodevelopmental disorders in children have become a significant global public health concern, impacting child health worldwide. In China, the current intervention model for high-risk infants involves early diagnosis and early treatment. However, in recent years, overseas studies have explored novel preventive early intervention strategies for neurodevelopmental disorders in high-risk infants, achieving promising results. This article provides a comprehensive review of the optimal timing, methods, and intervention models of the preventive early intervention strategies for neurodevelopmental disorders in high-risk infants. The aim is to enhance the awareness and knowledge of healthcare professionals regarding preventive early intervention strategies for neurodevelopmental disorders in high-risk infants, facilitate clinical research and application of such interventions in China, and ultimately reduce the incidence of neurodevelopmental disorders in this high-risk population.
  • ● REVIEW
    Recent advances in the genetic etiology of central precocious puberty
    ZHANG Yu-Yun, LUO Fei-Hong
    2024, 26(3): 302-307. https://doi.org/10.7499/j.issn.1008-8830.2309098
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    Central precocious puberty (CPP) is a developmental disorder caused by early activation of the hypothalamic-pituitary-gonadal axis. The incidence of CPP is rapidly increasing, but the underlying mechanisms are not fully understood. Previous studies have shown that gain-of-function mutations in the KISS1R and KISS1 genes and loss-of-function mutations in the MKRN3, LIN28, and DLK1 genes may lead to early initiation of pubertal development. Recent research has also revealed the significant role of epigenetic factors such as DNA methylation and microRNAs in the regulation of gonadotropin-releasing hormone neurons, as well as the modulating effect of gene networks involving multiple variant genes on pubertal initiation. This review summarizes the genetic etiology and pathogenic mechanisms underlying CPP.
  • ● REVIEW
    Advances in nutritional support for children undergoing hematopoietic stem cell transplantation
    ZHANG Ting, JIANG Mi-Zu
    2024, 26(3): 308-314. https://doi.org/10.7499/j.issn.1008-8830.2310014
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    Hematopoietic stem cell transplantation (HSCT) is a therapeutic option for various potentially life-threatening malignant and non-malignant diseases in children, such as malignancies, immunodeficiency syndromes, severe aplastic anemia, and inherited metabolic disorders. During transplantation, many factors can affect the nutritional status of the children, including radiotherapy, chemotherapy, gastrointestinal disorders, graft-versus-host disease, and medications. Malnutrition has been associated with decreased overall survival and increased complications in children undergoing HSCT, making nutritional support a crucial component of their management. However, currently, there is a lack of guidelines or consensus on nutritional support for children undergoing HSCT in China. Therefore, this review summarizes the progress in nutritional support for children undergoing HSCT, aiming to provide clinical guidance.
  • ● REVIEW
    Research advances on B-cell activating factor and its targeted agents in inflammatory bowel disease
    LI Lin, LIU Hai-Yan, WANG Li-Jun
    2024, 26(3): 315-320. https://doi.org/10.7499/j.issn.1008-8830.2309126
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    B-cell activating factor (BAFF), a critical regulator of B cells, is involved in various autoimmune diseases. Inflammatory bowel disease (IBD) is a group of chronic and recurrent intestinal inflammatory disorders with unclear etiology, and its global incidence has been increasing in recent years. Abnormal immune responses triggered by multiple factors are closely related to the pathogenesis of IBD. Previous studies have confirmed the association of B-cell abnormal activation and increased production of autoantibodies with the development of ulcerative colitis. However, the involvement of BAFF in the mechanisms of IBD remains unclear. This review summarizes the potential role of BAFF in the pathogenesis of IBD and provides an overview of targeted therapies on BAFF in IBD, aiming to contribute insights for targeted treatments of IBD.
    • COLUMN ON DIAGNOSIS & TREATMENT IN MDT MODE
  • ● COLUMN ON DIAGNOSIS & TREATMENT IN MDT MODE
    Acute heart failure in a neonate
    LI Shu-Juan, HU Li-Yuan, ZHANG Rong, YANG Lin, XI Li, LIU Fang, CAO Yun, ZHOU Wen-Hao, CHENG Guo-Qiang
    2024, 26(3): 321-324. https://doi.org/10.7499/j.issn.1008-8830.2311087
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    The male patient, one day old, was admitted to the hospital due to hypoglycemia accompanied by apnea appearing six hours after birth. The patient had transient hypoglycemia early after birth, and acute heart failure suddenly occurred on the eighth day after birth. Laboratory tests showed significantly reduced levels of adrenocorticotropic hormone and cortisol, and pituitary magnetic resonance imaging was normal. Genetic testing results showed that the patient had probably pathogenic compound heterozygous mutations of the TBX19 gene (c.917-2A>G+c.608C>T), inherited respectively from the parents. The patient was conclusively diagnosed with congenital isolated adrenocorticotropic hormone deficiency caused by mutation of the TBX19 gene. Upon initiating hydrocortisone replacement therapy, cardiac function rapidly returned to normal. After being discharged, the patient continued with the hydrocortisone replacement therapy. By the 18-month follow-up, the patient was growing and developing well. In neonates, unexplained acute heart failure requires caution for possible endocrine hereditary metabolic diseases, and timely cortisol testing and genetic testing should be conducted.