CJCP
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2024 Vol.  26 No.  1
Published: 2024-01-25
EXPERT COMMENTARY
GUIDELINE INTERPRETATION
COLUMN ON DIAGNOSIS & TREATMENT IN MDT MODE
SERIES LECTURE—STANDARDIZED DIAGNOSIS AND TREATMENT OF SHORT STATURE IN CHILDREN
STANDARD·PROTOCOL·GUIDELINE
CLINICAL RESEARCH
REVIEW
STANDARD·PROTOCOL·GUIDELINE
1 Branch of Pediatric Critical Care Physicians, Chinese Medical Association; Neonatologists Branch of Chinese Medical Association; Gansu Provincial Maternal and Child Health Hospital/Gansu Provincial Central Hospital/Gansu Pediatric Clinical Medical Research Center; Center for Evidence-Based Medicine, School of Basic Medicine, Lanzhou University/WHO Guidelines for Practice and Knowledge Transformation Cooperation Center/Gansu Province Medical Guideline Technology Center
Clinical practice guidelines for bronchoalveolar lavage in Chinese children (2024) Hot!
Bronchoalveolar lavage (BAL) has become an important technique in the diagnosis and treatment of respiratory diseases in children. In order to standardize the clinical application of BAL in children, the Branch of Pediatric Critical Care Physicians of Chinese Medical Association, in collaboration with other institutions, has developed the "Clinical practice guidelines for bronchoalveolar lavage in Chinese children (2024)" based on the principles of the World Health Organization guidelines and the formulation/revision principles of the Chinese clinical practice guidelines (2022 edition). This guideline provides 30 recommendations to guide the operational procedures of BAL in children.
2024 Vol. 26 (1): 1-13 [Abstract] ( 1135 ) [HTML 1KB] [PDF 754KB] ( 935 )
EXPERT COMMENTARY
14 LIU Jing
Management of lung diseases under ultrasound monitoring: potential to make bronchopulmonary dysplasia in preterm infants as an avoidable disease
Bronchopulmonary dysplasia (BPD) is the most common chronic lung disease in preterm infants. Despite significant progress in the understanding of its etiology, mechanisms, prevention, and treatment, the prognosis remains poor. BPD not only has a high mortality rate but also causes persistent respiratory, neurological, and cardiovascular impairments in survivors. The author's team has successfully prevented the occurrence of BPD by managing neonatal lung diseases under lung ultrasound monitoring for nearly 7 years, opening up a new approach in BPD prevention. This article provides a brief overview of the approach, aiming to facilitate further research and provide more scientifically sound management strategies to prevent or minimize the occurrence of BPD.
2024 Vol. 26 (1): 14-18 [Abstract] ( 663 ) [HTML 1KB] [PDF 539KB] ( 595 )
SERIES LECTURE—STANDARDIZED DIAGNOSIS AND TREATMENT OF SHORT STATURE IN CHILDREN
19 LIANG Li-Yang
Considerations on the improvement of height benefit in children with central precocious puberty
With the changes in various factors such as genetics and the environment, the incidence of childhood precocious puberty has been gradually increasing. Improving height is one of the key issues in the clinical management of precocious puberty. Currently, gonadotropin-releasing hormone analogs (GnRHa) remain the preferred treatment for precocious puberty, but their effect on height improvement is influenced by multiple factors, which may result in lower-than-expected height benefits. Combining recombinant human growth hormone (rhGH) therapy with GnRHa treatment is an alternative strategy to enhance the efficacy of GnRHa, but there is still no clear recommendation regarding the timing of their combination. Considering the current status of precocious puberty treatment, it is crucial to reevaluate the effects of GnRHa monotherapy and combination therapy with rhGH on height improvement. This article discusses strategies such as combination therapy indications to guide clinical medication and help children with precocious puberty achieve optimal height benefits.
2024 Vol. 26 (1): 19-24 [Abstract] ( 646 ) [HTML 1KB] [PDF 558KB] ( 706 )
GUIDELINE INTERPRETATION
25 ZHU Tian, SHI Yuan
Interpretation of 2023 American Heart Association and American Academy of Pediatrics focused update on neonatal resuscitation guidelines
In November 2023, the American Heart Association and the American Academy of Pediatrics jointly released key updates to the neonatal resuscitation guidelines based on new clinical evidence. This update serves as an important supplement to the "Neonatal resuscitation: 2020 American Heart Association guidelines for cardiopulmonary resuscitation and emergency cardiovascular care". The aim of this paper is to outline the key updates and provide guidance on umbilical cord management and the selection of positive pressure ventilation equipment and its additional interfaces in neonatal resuscitation.
2024 Vol. 26 (1): 25-30 [Abstract] ( 766 ) [HTML 1KB] [PDF 502KB] ( 727 )
CLINICAL RESEARCH
31 SA Ri-Na, WANG Ai-Qiong, GAO You-Han, LI Xiao-An, Hugejiletu
Efficacy of bronchoalveolar lavage combined with prone positioning in children with Mycoplasma pneumoniae pneumonia and atelectasis: a prospective randomized controlled study
Objective To study the efficacy of bronchoalveolar lavage (BAL) combined with prone positioning in children with Mycoplasma pneumoniae pneumonia (MPP) and atelectasis and its effect on pulmonary function. Methods A prospective study was conducted on 94 children with MPP and atelectasis who were hospitalized in Ordos Central Hospital of Inner Mongolia from November 2020 to May 2023. The children were randomly divided into a treatment group and a control group, with 47 children in each group. The children in the treatment group were given conventional treatment, BAL, and prone positioning, and those in the control group were given conventional treatment and BAL. The two groups were compared in terms of fever, pulmonary signs, length of hospital stay, lung recruitment, and improvement in pulmonary function. Results Compared with the control group, the treatment group had significantly shorter time to improvement in pulmonary signs and length of hospital stay and a significantly higher rate of lung recruitment on day 7 of hospitalization, on the day of discharge, and at 1 week after discharge (P<0.05). Compared with the control group, the treatment group had significantly higher levels of forced vital capacity (FVC) as a percentage of the predicted value, forced expiratory volume (FEV) in 1 second as a percentage of the predicted value, ratio of FEV in 1 second to FVC, forced expiratory flow at 50% of FVC as a percentage of the predicted value, forced expiratory flow at 75% of FVC as a percentage of the predicted value, and maximal mid-expiratory flow as a percentage of the predicted value on the day of discharge and at 1 week after discharge (P<0.05). There was no significant difference in the time for body temperature to return to normal between the two groups (P>0.05). Conclusions In the treatment of children with MPP and atelectasis, BAL combined with prone positioning can help to shorten the time to improvement in pulmonary signs and the length of hospital stay and promote lung recruitment and improvement in pulmonary function.
2024 Vol. 26 (1): 31-36 [Abstract] ( 740 ) [HTML 1KB] [PDF 608KB] ( 709 )
37 NING Jun-Jie, ZUO Zhi-Hui, YU Zhi-Dong, LI Xue-Mei, QIAO Li-Na
Safety of modified T-piece resuscitator versus nasal cannula oxygen in electronic bronchoscopy for infants: a prospective randomized controlled study
Objective To optimize the oxygen therapy regimens for infants with pulmonary diseases during bronchoscopy. Methods A prospective randomized, controlled, and single-center clinical trial was conducted on 42 infants who underwent electronic bronchoscopy from July 2019 to July 2021. These infants were divided into a nasal cannula (NC) group and a modified T-piece resuscitator (TPR) group using a random number table. The lowest intraoperative blood oxygen saturation was recorded as the primary outcome, and intraoperative heart rate and respiratory results were recorded as the secondary outcomes. Results Compared with the NC group, the modified TPR group had a significantly higher level of minimum oxygen saturation during surgery and a significantly lower incidence rate of hypoxemia (P<0.05). In the modified TPR group, there were 6 infants with mild hypoxemia, 2 with moderate hypoxemia, and 1 with severe hypoxemia, while in the NC group, there were 3 infants with mild hypoxemia, 5 with moderate hypoxemia, and 9 with severe hypoxemia (P<0.05). The modified TPR group had a significantly lower incidence rate of intraoperative respiratory rhythm abnormalities than the NC group (P<0.05), but there was no significant difference in the incidence rate of arrhythmias between the two groups (P>0.05). Conclusions Modified TPR can significantly reduce the risk of hypoxemia in infants with pulmonary diseases during electronic bronchoscopy, and TPR significantly decreases the severity of hypoxemia and the incidence of respiratory rhythm abnormalities compared with traditional NC.
2024 Vol. 26 (1): 37-41 [Abstract] ( 576 ) [HTML 1KB] [PDF 638KB] ( 423 )
42 FANG You-Hong, LUO You-You, ZHANG Rui-Fang, CHENG Qi, CHEN Jie
Clinical characteristics and prognosis of children with perianal fistulizing Crohn's disease
Objective To investigate the clinical characteristics, treatment, and prognosis of children with perianal fistulizing Crohn's disease (pfCD). Methods A retrospective analysis was conducted on the children, aged 6-17 years, who were diagnosed with Crohn's disease (CD) from April 2015 to April 2023. According to the presence or absence of perianal fistulizing lesions, they were divided into two groups: pfCD (n=60) and non-pfCD (n=82). The two groups were compared in terms of clinical characteristics, treatment, and prognosis. Results The incidence of pfCD was 42.3% (60/142). The proportion of males in the pfCD group was higher than that in the non-pfCD group. Compared with the non-pfCD group, the pfCD group had a significantly higher proportion of children with involvement of the colon and small intestine or those with upper gastrointestinal lesions (P<0.05). Compared with the non-pfCD group, the pfCD group had a significantly higher rate of use of infliximab during both induction and maintenance treatment (P<0.05). In the pfCD group, the children with complex anal fistula accounted for 62% (37/60), among whom the children receiving non-cutting suspended line drainage accounted for 62% (23/37), which was significantly higher than the proportion among the children with simple anal fistula patients (4%, 1/23) (P<0.05). There were no significant differences between the two groups in mucosal healing rate and clinical remission rate at week 54 of treatment (P>0.05). The pfCD group achieved a fistula healing rate of 57% (34/60) at week 54, and the children with simple anal fistula had a significantly higher rate than those with complex anal fistula (P<0.05). Conclusions There is a high incidence rate of pfCD in children with CD, and among the children with pfCD, there is a high proportion of children with the use of biological agents. There is a high proportion of children receiving non-cutting suspended line drainage among the children with complex anal fistula. The occurrence of pfCD should be closely monitored during the follow-up in children with CD.
2024 Vol. 26 (1): 42-47 [Abstract] ( 673 ) [HTML 1KB] [PDF 570KB] ( 727 )
48 WANG Yue-Sheng, ZHANG Jing, XUE Fu-Min, YU Jing, LI Xiao-Qin
Risk factors for delayed bleeding after intestinal polypectomy in children
Objective To investigate the clinical characteristics and risk factors of delayed bleeding after intestinal polypectomy in children, and to provide a theoretical basis for clinical surgical intervention of intestinal polyps. Methods A retrospective analysis was conducted on the clinical data of 2 456 children with intestinal polyps who underwent endoscopic high-frequency electrocoagulation loop resection in the Endoscopy Center of Children's Hospital Affiliated to Zhengzhou University from January 2014 to December 2021. According to the presence or absence of delayed bleeding after surgery, they were divided into bleeding group with 79 children and non-bleeding group with 2 377 children. A multivariate logistic regression analysis was used to investigate the risk factors for delayed bleeding. The receiver operating characteristic (ROC) curve was used to investigate the value of various indicators in predicting delayed bleeding. Results Of all 2 456 children, 79 (3.22%) experienced delayed bleeding, among whom 5 children with severe delayed bleeding underwent emergency colonoscopy for hemostasis and 74 received conservative treatment, and successful hemostasis was achieved for all children. There were significant differences between the bleeding and non-bleeding groups in age, body mass index, constipation rate, location of lesion, time of endoscopic procedure, resection method (P<0.05). Children with a diameter of polyps of 6-10 mm and >20 mm were more likely to develop delayed bleeding after resection (P<0.05). The multivariate logistic regression analysis showed that endoscopic operation time, polyp diameter, and resection method were significantly associated with delayed bleeding (P<0.05). The ROC curve analysis showed that the endoscopic operation time, polyp diameter, and resection method had a good value in predicting delayed bleeding after intestinal polypectomy, with an area under the ROC curve of 0.706, 0.688, and 0.627, respectively. Conclusions Endoscopic high-frequency electrocoagulation loop resection has a lower incidence of delayed bleeding in children with intestinal polyps, and the endoscopic operation time, polyp diameter, and resection method are closely associated with the occurrence of postoperative delayed bleeding.
2024 Vol. 26 (1): 48-53 [Abstract] ( 551 ) [HTML 1KB] [PDF 581KB] ( 566 )
54 TIAN Mei, MA Xiao-Yan, TONG Ling-Ling, JIA Lei-Na, DING Wen-Qing
Relationship of triglyceride-glucose index and its derivatives with blood pressure abnormalities in adolescents: an analysis based on a restricted cubic spline model
Objective To explore the relationship of triglyceride-glucose index (TyG), triglyceride-glucose-body mass index (TyG-BMI), and triglyceride-glucose-waist circumference index (TyG-WC) with blood pressure abnormalities in adolescents, providing theoretical basis for the prevention and control of hypertension in adolescents. Methods A stratified cluster sampling method was used to select 1 572 adolescents aged 12 to 18 years in Yinchuan City for questionnaire surveys, physical measurements, and laboratory tests. Logistic regression analysis and restricted cubic spline analysis were employed to examine the relationship of TyG, TyG-BMI, and TyG-WC with blood pressure abnormalities in adolescents. Results Multivariable logistic regression analysis revealed that after adjusting for confounding factors, the groups with the highest quartile of TyG, TyG-BMI, and TyG-WC had 1.48 times (95%CI: 1.07-2.04), 3.71 times (95%CI: 2.67-5.15), and 4.07 times (95%CI: 2.89-5.73) higher risks of blood pressure abnormalities compared to the groups with the lowest quartile, respectively. Moreover, as the levels of TyG, TyG-BMI, and TyG-WC increased, the risk of blood pressure abnormalities gradually increased (P<0.05). A non-linear dose-response relationship was observed between TyG-BMI and the risk of blood pressure abnormalities (Poverall trend<0.001, Pnon-linearity=0.002). Linear dose-response relationships were found between TyG and the risk of blood pressure abnormalities (Poverall trend<0.001, Pnon-linearit =0.232), and between TyG-WC and the risk of blood pressure abnormalities (Poverall trend<0.001, Pnon-linearity=0.224). Conclusions Higher levels of TyG and its derivatives are associated with an increased risk of blood pressure abnormalities in adolescents, with linear or non-linear dose-response relationships.
2024 Vol. 26 (1): 54-61 [Abstract] ( 582 ) [HTML 1KB] [PDF 1234KB] ( 639 )
62 WANG Xiao-Jia, GONG Ai-Hong, QI Sheng-Hong, LIU Lan
Risk factors for ketoacidosis in children/adolescents with type 1 diabetes mellitus and establishment of a predictive model
Objective To investigate the risk factors for diabetic ketoacidosis (DKA) in children/adolescents with type 1 diabetes mellitus (T1DM) and to establish a model for predicting the risk of DKA. Methods A retrospective analysis was performed on 217 children/adolescents with T1DM who were admitted to General Hospital of Ningxia Medical University from January 2018 to December 2021. Among the 217 children/adolescents,169 cases with DKA were included as the DKA group and 48 cases without DKA were included as the non-DKA group. The risk factors for DKA in the children/adolescents with T1DM were analyzed, and a nomogram model was established for predicting the risk of DKA in children/adolescents with T1DM. Results For the 217 children/adolescents with T1DM, the incidence rate of DKA was 77.9% (169/217). The multivariate logistic regression analysis showed that high levels of random blood glucose, hemoglobin A1c (HbA1c), blood ketone body, and triglyceride on admission were closely associated with the development of DKA in the children/adolescents with T1DM (OR=1.156, 3.203×1015, 20.131, and 9.519 respectively; P<0.05). The nomogram prediction model had a C-statistic of 0.95, with a mean absolute error of 0.004 between the risk of DKA predicted by the nomogram model and the actual risk of DKA, indicating that the model had a good overall prediction ability. Conclusions High levels of random blood glucose, HbA1c, blood ketone body, and triglyceride on admission are closely associated with the development of DKA in children/adolescents with T1DM, and targeted intervention measures should be developed to reduce the risk of DKA.
2024 Vol. 26 (1): 62-66 [Abstract] ( 645 ) [HTML 1KB] [PDF 612KB] ( 647 )
67 ZHANG Chuan, HUI Ling, ZHOU Bing-Bo, ZHENG Lei, WANG Yu-Pei, HAO Sheng-Ju, DA Zhen-Qiang, MA Ying, GUO Jin-Xian, CAO Zong-Fu, MA Xu
Disease spectrum and pathogenic genes of inherited metabolic disorder in Gansu Province of China
Objective To investigate the disease spectrum and pathogenic genes of inherited metabolic disorder (IMD) among neonates in Gansu Province of China. Methods A retrospective analysis was conducted on the tandem mass spectrometry data of 286 682 neonates who received IMD screening in Gansu Provincial Maternal and Child Health Hospital from January 2018 to December 2021. A genetic analysis was conducted on the neonates with positive results in tandem mass spectrometry during primary screening and reexamination. Results A total of 23 types of IMD caused by 28 pathogenic genes were found in the 286 682 neonates, and the overall prevalence rate of IMD was 0.63‰ (1/1 593), among which phenylketonuria showed the highest prevalence rate of 0.32‰ (1/3 083), followed by methylmalonic acidemia (0.11‰, 1/8 959) and tetrahydrobiopterin deficiency (0.06‰, 1/15 927). In this study, 166 variants were identified in the 28 pathogenic genes, with 13 novel variants found in 9 genes. According to American College of Medical Genetics and Genomics guidelines, 5 novel variants were classified as pathogenic variants, 7 were classified as likely pathogenic variants, and 1 was classified as the variant of uncertain significance. Conclusions This study enriches the database of pathogenic gene variants for IMD and provides basic data for establishing an accurate screening and diagnosis system for IMD in this region.
2024 Vol. 26 (1): 67-71 [Abstract] ( 558 ) [HTML 1KB] [PDF 542KB] ( 710 )
72 LI Jia-Mei, XIE Qun-Ying, WEN Yu-Qi, SONG Yan-Yan, LIANG Hui-Ying, HU Yan
Longitudinal study on catch-up growth in preterm infants with small for gestational age at corrected ages 0-24 months
Objective To understand the growth and development status and differences between small for gestational age (SGA) and appropriate for gestational age (AGA) preterm infants during corrected ages 0-24 months, and to provide a basis for early health interventions for preterm infants. Methods A retrospective study was conducted, selecting 824 preterm infants who received regular health care at the Guangzhou Women and Children's Medical Center from July 2019 to July 2022, including 144 SGA and 680 AGA infants. The growth data of SGA and AGA groups at birth and corrected ages 0-24 months were analyzed and compared. Results The SGA group had significantly lower weight and length than the AGA group at corrected ages 0-18 months (P<0.05), while there were no significant differences between the two groups at corrected age 24 months (P>0.05). At corrected age 24 months, 85% (34/40) of SGA and 79% (74/94) of AGA preterm infants achieved catch-up growth. Stratified analysis by gestational age showed that there were significant differences in weight and length at corrected ages 0-9 months between the SGA subgroup with gestational age <34 weeks and the AGA subgroups with gestational age <34 weeks and ≥34 weeks (P<0.05). In addition, the weight and length of the SGA subgroup with gestational age ≥34 weeks showed significant differences compared to the AGA subgroups with gestational age <34 weeks and ≥34 weeks at corrected ages 0-18 months and corrected ages 0-12 months, respectively (P<0.05). Catch-up growth for SGA infants with gestational age <34 weeks and ≥34 weeks mainly occurred at corrected ages 0-12 months and corrected ages 0-18 months, respectively. Conclusions SGA infants exhibit delayed early-life physical growth compared to AGA infants, but can achieve a higher proportion of catch-up growth by corrected age 24 months than AGA infants. Catch-up growth can be achieved earlier in SGA infants with a gestational age of <34 weeks compared to those with ≥34 weeks.
2024 Vol. 26 (1): 72-80 [Abstract] ( 630 ) [HTML 1KB] [PDF 633KB] ( 561 )
REVIEW
81 SHAO Shu-Ming, ZHANG Yi-Min, ZHANG Xiao-Rui
Research progress on the manifestations and prognosis of neonatal lupus erythematosus in various systems
Neonatal lupus erythematosus (NLE) is caused by the transmission of maternal anti-Ro/SSA antibodies, anti-La/SSB antibodies, and other autoantibodies to the fetus through the placenta. Usually, with the disappearance of autoantibodies in the children's body, abnormal changes in the mucocutaneous, blood system, and digestive system can spontaneously subside, but the damage to various systems caused by autoantibodies may persist for a long time. This article provides a comprehensive review of the manifestations and prognosis of NLE in various systems, including mucocutaneous, blood system, circulatory system, nervous system, digestive system, respiratory system, aiming to provide reference for clinical work.
2024 Vol. 26 (1): 81-85 [Abstract] ( 739 ) [HTML 1KB] [PDF 532KB] ( 708 )
86 YANG Qian, LIU Yun-Feng
Research progress on brain functional near-infrared spectroscopy technology in the field of neonates
Functional near infrared spectroscopy (fNIRS) is an emerging neuroimaging tool that reflects the activity and function of brain neurons by monitoring changes in brain oxygen metabolism based on the neurovascular coupling mechanism. It is non-invasive and convenient, especially suitable for monitoring neonatal brain function. This article provides a comprehensive review of research related to the developmental patterns of brain networks concerning language, music, and emotions in neonates using fNIRS. It also covers brain network imaging in neonatal care, resting-state brain network connectivity patterns, and characteristics of brain functional imaging in disease states of neonates using fNIRS.
2024 Vol. 26 (1): 86-91 [Abstract] ( 734 ) [HTML 1KB] [PDF 644KB] ( 728 )
92 GUO Meng-Yang, YAO Kai-Hu
Research progress on the mechanism of β-lactam resistance in group A Streptococci in vivo
β-lactams, including penicillin, have been used for over 80 years in the treatment of group A Streptococcus (GAS) infections. Although β-lactam-resistant GAS strains have not been identified in vitro tests, clinical treatment failures have been reported since the 1950s. The mechanism underlying the clinical failure of β-lactam treatment in GAS infections remains unclear. Previous research has suggested that β-lactam resistance in GAS in vivo is associated with reduced drug susceptibility of strains, bacterial inoculation effects, biofilm formation, the effect of coexisting bacteria, bacterial persistence, and bacterial internalization into host cells. This article reviews the main reports on β-lactam treatment failure in GAS infections and analyzes the possible mechanisms of β-lactam resistance in vivo. The findings aim to contribute to future research and clinical approaches in the field.
2024 Vol. 26 (1): 92-97 [Abstract] ( 521 ) [HTML 1KB] [PDF 623KB] ( 535 )
98 ZHOU Bin, HUANG Yu-Kun, HONG Shao-Xian, JIAO Fu-Yong, XIE Kai-Sheng
Multisystem inflammatory syndrome in children in the context of coronavirus disease 2019 pandemic
Multisystem inflammatory syndrome in children (MIS-C) is a complex syndrome characterized by multi-organ involvement that has emerged in the context of the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) outbreak. The clinical presentation of MIS-C is similar to Kawasaki disease but predominantly presents with fever and gastrointestinal symptoms, and severe cases can involve toxic shock and cardiac dysfunction. Epidemiological findings indicate that the majority of MIS-C patients test positive for SARS-CoV-2 antibodies. The pathogenesis and pathophysiology of MIS-C remain unclear, though immune dysregulation following SARS-CoV-2 infection is considered a major contributing factor. Current treatment approaches for MIS-C primarily involve intravenous immunoglobulin therapy and symptomatic supportive care. This review article provides a comprehensive overview of the definition, epidemiology, pathogenesis, clinical presentation, diagnosis, treatment, and prognosis of MIS-C.
2024 Vol. 26 (1): 98-102 [Abstract] ( 840 ) [HTML 1KB] [PDF 548KB] ( 639 )
COLUMN ON DIAGNOSIS & TREATMENT IN MDT MODE
103 ZHU Yan, JIANG Si-Yuan, ZHANG Rong, CAO Yun, ZHANG Shu-Lian
A case of neonatal Netherton syndrome
A male infant, aged 6 days, was admitted to the hospital due to respiratory distress and systemic desquamative rash after birth. The infant presented with erythema and desquamative rash, respiratory failure, recurrent infections, chronic diarrhea, hypernatremic dehydration, and growth retardation. Comprehensive treatment, including anti-infection therapy, intravenous immunoglobulin administration, and skin care, resulted in improvement of the rash, but recurrent infections persisted. Second-generation sequencing revealed a homozygous mutation in the SPINK5 gene, consistent with the pathogenic variation of Netherton syndrome. The family opted for palliative care, and the infant died at the age of 2 months after discharge. This report documents a case of Netherton syndrome caused by the SPINK5 gene mutation in the neonatal period, and highlights multidisciplinary diagnosis and therapy for this condition.
2024 Vol. 26 (1): 103-106 [Abstract] ( 614 ) [HTML 1KB] [PDF 637KB] ( 633 )
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