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Frequency and characteristics of seizures precipitated by febrile urinary tract infections in neonates and infants. 新生儿和婴儿发热性尿路感染引起癫痫发作的频率和特点。
IF 2.3 4区 医学 Q2 PEDIATRICS Pub Date : 2024-10-19 DOI: 10.1016/j.pedneo.2024.05.004
Eun Mi Yang, Sanghoon Lee, Young Ok Kim

Background: A febrile urinary tract infection (UTI) is a minor febrile seizure (FS) determinant. Seizures precipitated by febrile UTIs in neonates and infants frequently surprise parents, as they are vulnerable to bacterial meningitis and younger than the usual ages of FS. However, their frequency and characteristics are relatively unknown.

Methods: This study screened 1059 children (≤12 months) with febrile UTIs admitted to Chonnam National University Children's Hospital from January 2015 to June 2023. Patients with seizures precipitated by febrile UTIs were enrolled, and their medical records were reviewed. The frequency and clinical characteristics of seizures effectuated by febrile UTIs were investigated by comparing FS, FS+, and afebrile seizure (aFS).

Results: Twenty-eight patients (2.6%) were enrolled: 19 with early-onset FS+ (2.3% of 814 patients <6 months), nine with FS (3.7% of 245 patients), but there were none with aFS. Acute pyelonephritis was found in 80.8% of 26 patients. Clustered seizures (47.4% vs. 22.2% in FS, P = 0.197) and complex types (73.7% vs. 22.2%; P = 0.015) were frequent in early-onset FS+. Among 42 seizure episodes, bilateral tonic seizures were noted only in FS+ (44.8%; P = 0.001), but bilateral tonic-clonic seizures were frequent in FS (69.2% vs. 27.6%; P = 0.011).

Conclusion: Seizures precipitated by febrile UTIs occurred in 2.6% of neonates and infants: all were febrile and were predominantly with acute pyelonephritis. Infantile FS characteristics of febrile UTIs resembled those of usual FS, whereas early-onset FS + differed significantly as usually occurring in complex types and bilateral tonic ones.

背景:发热性尿路感染(UTI)是发热性惊厥(FS)的一个次要决定因素。新生儿和婴儿因发热性尿路感染而诱发癫痫发作常常令家长感到惊讶,因为他们很容易患细菌性脑膜炎,而且比通常的发热性癫痫发作年龄更小。然而,他们的发病率和特征却相对未知:本研究筛查了 2015 年 1 月至 2023 年 6 月入住全南大学儿童医院的 1059 名发热性尿毒症患儿(≤12 个月)。由发热性 UTI 引发癫痫发作的患者被纳入研究对象,并对其病历进行了审查。通过比较FS、FS+和非发热性癫痫发作(aFS),研究了发热性尿毒症引起癫痫发作的频率和临床特征:共有 28 名患者(2.6%)入组:结果:共有 28 名患者(2.6%)入选:19 名患者为早发性 FS+(占 814 名患者的 2.3% 结论2.6%的新生儿和婴幼儿因发热性尿路感染而诱发癫痫发作:所有患者均发热,且以急性肾盂肾炎为主。发热性尿毒症的婴儿 FS 特征与普通 FS 相似,而早发性 FS + 则有明显不同,通常发生在复合型和双侧强直型。
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引用次数: 0
Seasonal variation in newborn hip dysplasia: Unraveling the impact of weather on hip development. 新生儿髋关节发育不良的季节性变化:揭示天气对髋关节发育的影响。
IF 2.3 4区 医学 Q2 PEDIATRICS Pub Date : 2024-10-19 DOI: 10.1016/j.pedneo.2024.05.005
Ung Sia, Hui Wen Chen, Wei Chun Lee, Hsuan Kai Kao, Wen E Yang, Chia Hsieh Chang

Background: Babies born in winter have greater incidence of developmental dysplasia of the hip (DDH) and related surgeries. How weather conditions impact hip development and how screening program reacts weather issue remain unknown. This study tests a hypothesis that winter born babies have more newborn acetabular dysplasia and laxity that is responsible of later DDH.

Methods: Retrospective data from newborns who had hip ultrasonography in the first 3 days of life were analyzed. The Graf type IIc, III, IV (shallow acetabulum) and type D (laxity) were classified as abnormal. The association and risks of an abnormal hip were analyzed with gender, gestational age, fetal presentation, parity and external temperature of birth month and the last 3 months before birth using the Pearson chi-square test and logistic regression.

Results: A total of 10962 newborns participated in hip ultrasound exams voluntarily in nurseries from 2016 to 2022. Distribution of babies with Graf type I, IIa, IIc, D, III/IV hips were 88.8%, 10%, 0.5%, 0.6%, and 0.1%, respectively. Female was the most significant factor for congenital shallow acetabulum (3.8x) and hip laxity (4x) compared to male (p < 0.001). Preterm babies had a borderline lower risk of abnormal hips (0.4x, p = 0.05). Winter season is not associated with newborn abnormal hips (p = 0.36, statistical power = 80%), but a positive correlation was noted between external temperature and incidence of abnormal hips (r = 0.62, p = 0.03). Cold weather does not have a direct internal effect in acetabular dysplasia or hip laxity at birth.

Conclusions: Babies who were born in winter were not associated with acetabular dysplasia and hip laxity at birth but had greater risks of late-diagnosed DDH and surgeries. The postnatal effects from weather should be addressed by a public awareness campaign, and hip screening may not be limited on the neonatal stage.

Level of evidence: level III, diagnostic.

背景:冬季出生的婴儿髋关节发育不良(DDH)和相关手术的发病率较高。天气条件如何影响髋关节发育以及筛查项目如何应对天气问题仍是未知数。本研究验证了一个假设,即冬季出生的婴儿有更多的新生儿髋臼发育不良和松弛,这也是日后髋关节发育不良的原因:方法:对出生后 3 天内接受髋关节超声检查的新生儿的回顾性数据进行分析。格拉夫 IIc 型、III 型、IV 型(髋臼较浅)和 D 型(松弛)被列为异常。利用皮尔逊卡方检验和逻辑回归分析了髋关节异常与性别、胎龄、胎儿表现、奇偶数、出生月份和出生前 3 个月体温的关联性和风险:从2016年到2022年,共有10962名新生儿自愿参加了托儿所的臀部超声检查。格拉夫Ⅰ型、Ⅱa型、Ⅱc型、D型、Ⅲ型/Ⅳ型髋关节的婴儿分布分别为88.8%、10%、0.5%、0.6%和0.1%。与男性相比,女性是导致先天性浅髋臼(3.8 倍)和髋关节松弛(4 倍)的最重要因素(P 结论):冬季出生的婴儿与出生时髋臼发育不良和髋关节松弛无关,但晚期诊断为DDH和手术的风险更高。应通过提高公众意识的活动来应对天气对出生后的影响,髋关节筛查也不应局限于新生儿阶段。
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引用次数: 0
Abdominal aorta intima-media thickness in children with hypothyroidism. 甲状腺功能减退症儿童的腹主动脉内膜中层厚度。
IF 2.3 4区 医学 Q2 PEDIATRICS Pub Date : 2024-09-28 DOI: 10.1016/j.pedneo.2024.04.015
Rehab Fawzy Abdel Mohsen Soliman, Mohamed Hamdna Allah El Ghobashy, Mona Hassan Hafez, Hend Mehawed Abdel Latif, Menna Elbarbary, Amany Ibrahim

Hypothyroidism is associated with atherosclerosis, which is attributed mainly to an atherogenic lipid profile. Increased intima-media thickness (IMT) is the first structural change detected in atherosclerosis. This prospective cohort study investigated lipid profile and abdominal aorta IMT in patients newly-diagnosed with hypothyroidism and their change one year post-treatment. It included fifty patients divided into three groups according to their diagnosis: congenital hypothyroidism (CH), Acquired and CH stopped treatment/uncontrolled group. They were subjected to history, auxological, blood pressure, non-fasting lipid profile, and abdominal aorta IMT measurement by abdominal ultrasound. These demonstrated high basal cholesterol, triglycerides, and LDL (259.64 ± 82.06, 193.94 ± 71.54, and 144.70 ± 48.46 mg/dl, respectively) and significant reduction after treatment (216.66 ± 44.60, 165.70 ± 53.58 and 123.26 ± 29.79 mg/dl, respectively). Low basal HDL (47.92 ± 10.08 mg/dl) increased significantly (57.56 ± 7.94 mg/dl) after treatment. Abdominal aorta IMT decreased significantly after treatment and achievement of euthyroidism (1.47 ± 0.49 and 1.33 ± 0.41 mm, respectively). In conclusion, upon treatment of hypothyroidism and achievement of euthyroidism, abdominal aorta IMT, cholesterol, triglycerides, and LDL decreased significantly, and HDL increased. Abdominal aorta IMT measurement is an easy and feasible way for the early detection of atherosclerosis.

甲状腺功能减退症与动脉粥样硬化有关,而动脉粥样硬化主要归因于致动脉粥样硬化的血脂状况。中层内膜厚度(IMT)的增加是动脉粥样硬化最先发现的结构变化。这项前瞻性队列研究调查了新诊断为甲状腺功能减退症患者的血脂概况和腹主动脉内中膜厚度及其在治疗一年后的变化。研究纳入了 50 名患者,根据其诊断分为三组:先天性甲状腺功能减退症(CH)组、后天性甲状腺功能减退症组和停止治疗/未控制甲状腺功能减退症组。他们接受了病史、辅助检查、血压、非空腹血脂检查和腹部超声波腹主动脉内径测量。结果显示,基础胆固醇、甘油三酯和低密度脂蛋白偏高(分别为 259.64 ± 82.06、193.94 ± 71.54 和 144.70 ± 48.46 mg/dl),治疗后显著降低(分别为 216.66 ± 44.60、165.70 ± 53.58 和 123.26 ± 29.79 mg/dl)。低基础高密度脂蛋白(47.92 ± 10.08 mg/dl)在治疗后明显增加(57.56 ± 7.94 mg/dl)。腹主动脉内径在治疗和甲状腺功能恢复后明显下降(分别为 1.47 ± 0.49 毫米和 1.33 ± 0.41 毫米)。总之,在治疗甲状腺功能减退症并达到甲状腺功能正常后,腹主动脉内径、胆固醇、甘油三酯和低密度脂蛋白明显下降,而高密度脂蛋白上升。腹主动脉内径测量是早期发现动脉粥样硬化的一种简便可行的方法。
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引用次数: 0
Pediatric appendicitis may be co-associated with meteorologic factors: A case-crossover study. 小儿阑尾炎可能与气象因素有关:病例交叉研究
IF 2.3 4区 医学 Q2 PEDIATRICS Pub Date : 2024-09-25 DOI: 10.1016/j.pedneo.2024.04.016
M Nissen, R-B Tröbs, A Albeer

Background: The etiopathogenesis of appendicitis is still not fully understood. Few reports have researched the impact of weather as a cofactor for the development of appendicitis.

Methods: To investigate the potential association between the development of appendicitis and exposure to ambient meteorological conditions, a retrospective case-crossover study was conducted. Publicly available meteorologic data were matched with those from 1343 patients aged ≤19 years with histologically confirmed acute (AA; n = 996) or perforated appendicitis (PA; n = 347) treated at our pediatric surgical hospital between October 2001 and October 2018.

Results: A time-stratified conditional logistic regression analysis revealed increased odds ratios (ORs) for AA of 4-5% for each 1 hPa increase in vapor pressure during each 3-7 day cumulative moving averages (CMA) lag preceding appendectomy. This effect was stronger on stratification by age class >10 years (OR 1.05-1.08; 3-7-day CMA) and during spring (OR 1.08-1.09; 4-7-day CMA). Moreover, each 1% increase in relative humidity on the day of appendectomy was associated with a 2% decrease in the OR for PA, which was 4% during autumn under seasonal stratification.

Conclusion: The role of meteorologic factors in the development of appendicitis remains largely unclear. In accordance with the literature, our results show that seasonal variations together with exposure to altered levels of humidity and vapor pressure may impact patients at different grades of appendiceal inflammation. Thus, transient fluctuations in meteorologic and seasonal variables may constitute cofactors that potentially influence the occurrence and course of pediatric appendicitis.

背景:人们对阑尾炎的发病机理仍不十分清楚。很少有报告研究天气作为阑尾炎发病的辅助因素的影响:为了研究阑尾炎的发病与暴露于环境气象条件之间的潜在关联,我们进行了一项回顾性病例交叉研究。将公开的气象数据与2001年10月至2018年10月期间在本院儿外科医院接受治疗的1343名年龄≤19岁、经组织学确诊的急性阑尾炎(AA;n = 996)或穿孔性阑尾炎(PA;n = 347)患者的气象数据进行比对:时间分层条件逻辑回归分析显示,在阑尾切除术前3-7天的累积移动平均值(CMA)滞后期,水汽压每增加1 hPa,AA的几率比(ORs)增加4-5%。这种效应在按大于 10 岁的年龄分层(OR 1.05-1.08;3-7 天累积移动平均值)和春季(OR 1.08-1.09;4-7 天累积移动平均值)时更强。此外,阑尾切除术当天的相对湿度每增加1%,PA的OR就会降低2%,而在季节分层下,秋季的OR降低了4%:结论:气象因素在阑尾炎发病中的作用在很大程度上仍不明确。与文献一致,我们的研究结果表明,季节变化以及暴露于湿度和蒸汽压水平的改变可能会对不同程度的阑尾炎患者产生影响。因此,气象和季节变量的短暂波动可能构成潜在影响小儿阑尾炎发生和病程的辅助因素。
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引用次数: 0
Intracardiac air bubbles in a neonate with necrotizing enterocolitis. 一名患有坏死性小肠结肠炎的新生儿心内出现气泡。
IF 2.3 4区 医学 Q2 PEDIATRICS Pub Date : 2024-09-25 DOI: 10.1016/j.pedneo.2024.09.002
Yu Fukushima, Kei Tamai, Shigehiro Mori, Akihito Takeuchi, Makoto Nakamura, Misao Kageyama
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引用次数: 0
Machine-learning-based evaluation of the usefulness of lactate for predicting neonatal mortality in preterm infants. 基于机器学习的乳酸预测早产儿新生儿死亡率实用性评估。
IF 2.3 4区 医学 Q2 PEDIATRICS Pub Date : 2024-09-25 DOI: 10.1016/j.pedneo.2024.09.003
Moon-Yeon Oh, Sol Kim, Minsoo Kim, Yu Mi Seo, Sook Kyung Yum

Background: Unlike in adult and pediatric patients, the usefulness of lactate in preterm infants has not been thoroughly discussed. This study aimed to evaluate whether the lactate level in the first hours of life is an important factor associated with neonatal death in very-low-birth-weight (VLBW) preterm infants.

Methods: Electronic medical records from a level 4 neonatal intensive care unit in South Korea were reviewed to obtain perinatal and neonatal outcomes. Data on lactate levels of preterm infants in the first 12 h of life were collected. Neonatal mortality and morbidities were compared based on lactate levels. Subsequently, machine-learning models incorporating 20 independent variables, both with and without lactate, were compared for model performances and feature importance of lactate for predicting in-hospital mortality in the applicable models.

Results: One hundred and sixty-eight preterm infants were included. Death rates on days 7 and 30 of life (D30-mortality) were significantly higher in infants with high lactate levels (≥3rd interquartile range) than in those with lower levels (<3rd interquartile range). Though statistically insignificant, the overall in-hospital mortality was more than twice as high in the high lactate level group than in the lower lactate level group. Based on the machine learning results, Random Forest, Gradient Boosting, and LightGBM models all showed greater area under the curves when lactate was included. Lactate consistently ranked in the variables of top five feature importance, particularly showing the greatest value in the Gradient Boosting model.

Conclusion: Lactate levels during the early hours of life may be an important factor associated with in-hospital death of preterm VLBW infants. Based on the enhanced performance of the above-mentioned machine learning models, lactate levels in the early postnatal period may add to assessing the clinical status and predicting the hospital course in this population.

背景:与成人和儿科患者不同,乳酸对早产儿的作用尚未得到深入讨论。本研究旨在评估生命最初几小时的乳酸水平是否是与极低出生体重(VLBW)早产儿新生儿死亡相关的重要因素:方法:研究人员查阅了韩国一家四级新生儿重症监护病房的电子病历,以了解围产期和新生儿结局。收集了早产儿出生后 12 小时内的乳酸水平数据。根据乳酸水平比较了新生儿死亡率和发病率。随后,比较了包含和不包含乳酸的20个自变量的机器学习模型的性能,以及乳酸在适用模型中预测院内死亡率的特征重要性:结果:共纳入 168 名早产儿。出生后第 7 天和第 30 天的死亡率(D30-死亡率)在乳酸水平较高(≥第 3 次四分位数间范围)的婴儿中明显高于乳酸水平较低的婴儿:生命早期的乳酸水平可能是早产低体重儿院内死亡的重要相关因素。根据上述机器学习模型的增强性能,产后早期的乳酸水平可能有助于评估该人群的临床状况和预测住院过程。
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引用次数: 0
Changes in adequacy of splanchnic oxygen delivery and splanchnic artery Doppler after bolus feedings in infants: A systematic review and meta-analysis. 婴儿栓剂喂养后脾脏供氧充足性和脾动脉多普勒的变化:系统回顾和荟萃分析。
IF 2.3 4区 医学 Q2 PEDIATRICS Pub Date : 2024-09-19 DOI: 10.1016/j.pedneo.2024.04.014
Rohit S Loomba, Saloni P Sheth, Joshua Wong, Megan Davis, Juan S Farias, Enrique G Villarreal, Saul Flores

Background: Current practice regarding timing of feed initiation and feed tolerance largely relies on anecdotal practice and protocols. This study aims to provide an objective measure to guide clinical practice by analyzing changes in splanchnic regional oxygen saturation and Doppler patterns with feeds.

Methods: A systematic review was performed. Inclusion criteria were: 1) patients under 1 year of age; 2) splanchnic regional oxygen saturation with near infrared spectroscopy before and after feeds or mesenteric Doppler findings before and after feeds; and 3) clinical parameters must have been presented as either mean and standard deviation or median and range. Endpoints of interest included splanchnic regional oxygen saturation, splanchnic systolic velocity, and splanchnic diastolic velocity. Meta-analyses were conducted using an inverse-variance model. The pooled effects are reported as mean difference and 95% confidence interval. Meta-regression was conducted for each endpoint with the following independent variables entered into the model: study year, gestational age, birth weight, time to measurement, and age at time of study.

Results: This study included 8 studies with a total of 240 patients. Splanchnic regional oxygen saturation did not significantly differ after feeds (mean difference +1.0, 95% CI -2.9 to 4.9, p-value 0.62). Sensitivity analyses demonstrated that gestational age under 28 weeks was associated with a significant decrease in splanchnic regional oxygen saturation and GA over 30 weeks was not. Splanchnic artery systolic velocity was significantly higher after feeds (mean difference +34.0 cm/s, 95% CI 11.1-57.0 cm/s, p-value <0.01). Sensitivity analyses for gestational age and birth weight did not find any significant difference in pooled effect.

Conclusion: Splanchnic regional oxygen saturation was significantly decreased after feeds in those patients under 28 weeks of gestation compared to those over 30 weeks. Systolic and diastolic Doppler velocities were significantly higher after feeds without differences in gestational age.

背景:目前有关开始喂养的时机和喂养耐受性的实践主要依赖于轶事实践和协议。本研究旨在通过分析喂食时脾脏区域血氧饱和度和多普勒模式的变化,为临床实践提供客观的指导:方法:进行系统回顾。纳入标准为1)1 岁以下的患者;2)喂食前后用近红外光谱检查脾脏区域血氧饱和度或喂食前后肠系膜多普勒检查结果;3)临床参数必须以平均值和标准差或中位数和范围表示。研究终点包括脾脏区域血氧饱和度、脾脏收缩速度和脾脏舒张速度。采用逆方差模型进行 Meta 分析。汇总效应以平均差和 95% 置信区间的形式报告。对每个终点进行了元回归,并在模型中加入了以下自变量:研究年份、胎龄、出生体重、测量时间和研究时的年龄:本研究包括 8 项研究,共 240 名患者。喂养后腹膜区域血氧饱和度无明显差异(平均差异+1.0,95% CI -2.9至4.9,P值0.62)。敏感性分析表明,胎龄低于 28 周与脾脏区域血氧饱和度的显著下降有关,而胎龄超过 30 周则与之无关。喂养后脾动脉收缩速度明显升高(平均差异+34.0 cm/s,95% CI 11.1-57.0 cm/s,P值 结论:脾区域氧饱和度与胎龄无关:与妊娠 30 周以上的患者相比,妊娠 28 周以下的患者喂食后腹膜区域血氧饱和度明显降低。多普勒收缩和舒张速度在喂奶后明显升高,但胎龄无差异。
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引用次数: 0
Mendelian randomization analysis on the impacts of age at menarche on adult height: A Taiwanese population study 月经初潮年龄对成年身高影响的孟德尔随机分析:一项台湾人口研究
IF 2.1 4区 医学 Q2 PEDIATRICS Pub Date : 2024-09-08 DOI: 10.1016/j.pedneo.2024.04.012
Martin Tshishimbi Lukusa, Cheng-Yi Yang, Meng-Che Tsai
Ample evidence supports potential influence of age at menarche (AM) on adult height (AH), but multiple confounders may affect causal estimates. To address this issue, the Mendelian randomization (MR) analysis was used to explore the causal impacts of AM on AH.
大量证据表明,月经初潮年龄(AM)对成年身高(AH)有潜在影响,但多种混杂因素可能会影响因果关系的估计。为了解决这个问题,我们采用了孟德尔随机分析法(MR)来探讨初潮年龄对成年身高的因果影响。
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引用次数: 0
Early postnatal immature-to-total neutrophil ratio in the histological chorioamnionitis among neonatal intensive care unit infants 新生儿重症监护室婴儿中组织学绒毛膜羊膜炎的产后早期未成熟中性粒细胞与总中性粒细胞比率
IF 2.1 4区 医学 Q2 PEDIATRICS Pub Date : 2024-09-07 DOI: 10.1016/j.pedneo.2024.04.013
Takashi Imamura, Shuhei Yamaguchi, Yuji Kanai, Yoshiyuki Namai
Histological chorioamnionitis (hCAM) is a major risk factor for early-onset sepsis. Predictive methods for hCAM are needed in clinical practice during the early postnatal period. To examine the relationship between hCAM and perinatal variables including early postnatal immature-to-total neutrophil ratio (ITR).
组织学绒毛膜羊膜炎(hCAM)是早发败血症的主要风险因素。产后早期的临床实践需要对 hCAM 进行预测。研究 hCAM 与围产期变量(包括产后早期未成熟中性粒细胞与总中性粒细胞比值(ITR))之间的关系。
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引用次数: 0
Molecular biology of glucose-6-phosphate dehydrogenase and UDP-glucuronosyltransferase 1A1 in the development of neonatal unconjugated hyperbilirubinemia 葡萄糖-6-磷酸脱氢酶和 UDP-葡萄糖醛酸基转移酶 1A1 在新生儿非结合型高胆红素血症发病过程中的分子生物学作用
IF 2.3 4区 医学 Q2 PEDIATRICS Pub Date : 2024-09-01 DOI: 10.1016/j.pedneo.2024.02.003

Glucose-6-phosphate dehydrogenase (G6PD) deficiency and variants of the UDP-glucuronosyltransferase 1A1 (UGT1A1) gene are the most common genetic causes of neonatal unconjugated hyperbilirubinemia (NUH). In this review, we searched PubMed for articles on the genetic causes of NUH published before December 31, 2022, and analyzed the data. On the basis of the results, we reached eight conclusions: (1) 37 mutations of the G6PD gene are associated with NUH; (2) the clinical manifestation of G6PD deficiency depends not only on ethnicity but also on the molecular mechanisms underlying the deficiency (and thus its severity); (3) of mutations in the UGT1A1 gene, homozygous c.−53A(TA)6TAA > A(TA)7TAA is the main cause of NUH in Caucasians and Africans, whereas homozygous c.211G > A is the main genetic cause of NUH in East Asians; (4) in Indonesian neonates, homozygous c.−3279T > G is the most common cause of NUH development, and neither c.−53 A(TA)6TAA > A(TA)7TAA nor c.211G > A causes it; (5) in breast-fed East Asian neonates, the TA7 repeat variant of the UGT1A1 gene protects against the development of NUH; (6) G6PD deficiency combined with homozygous c.211G > A variation of the UGT1A1 gene increases the risk of severe NUH; (7) in Pakistani and Caucasian patients with Crigler–Najjar syndrome type 2 (CN-2), point mutations of the UGT1A1 gene are widely distributed and frequently occur with variation at nucleotide −53, whereas in Asian patients with CN-2, compound homozygous variations in the coding region are frequently observed; and (8) records of G6PD deficiency and UGT1A1 variation status for a neonate offer useful pharmacogenomic information that can aid long-term care. These results indicate that timely diagnosis of NUH through molecular tests is crucial and that early initiation of treatment for the neonates and educational programs for their parents improves outcomes.

葡萄糖-6-磷酸脱氢酶(G6PD)缺乏症和()基因变异是新生儿非结合性高胆红素血症(NUH)最常见的遗传病因。在这篇综述中,我们在 PubMed 上检索了 2022 年 12 月 31 日之前发表的有关 NUH 遗传原因的文章,并对数据进行了分析。在此基础上,我们得出了八个结论:(1)37 个基因突变与 NUH 相关;(2)G6PD 缺乏症的临床表现不仅取决于种族,还取决于该缺乏症的分子机制(及其严重程度);(3)在基因突变中,同源 c.-53A(TA)TAA > A(TA)TAA 是白种人和非洲人 NUH 的主要病因,而同源 c.211G > A 是东亚人 NUH 的主要遗传原因;(4) 在印度尼西亚新生儿中,同型 c.-3279T > G 是 NUH 发生的最常见原因,c.-53 A(TA)TAA > A(TA)TAA 和 c.211G > A 都不会导致 NUH;(5) 在母乳喂养的东亚新生儿中,该基因的 TA7 重复变异可防止 NUH 的发生;(6) G6PD 缺乏症合并同型 c.211G > A 基因变异会增加患严重 NUH 的风险;(7) 在巴基斯坦和白种人的 Crigler-Najjar 综合征 2 型(CN-2)患者中,该基因的点突变分布广泛,常发生在核苷酸 -53 处的变异,而在亚洲 CN-2 患者中,常观察到编码区的复合同源变异;(8) 新生儿的 G6PD 缺乏症和变异状态记录可提供有用的药物基因组学信息,有助于长期护理。这些结果表明,通过分子检测及时诊断 NUH 至关重要,而对新生儿及早开始治疗并对其父母进行教育可改善预后。
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引用次数: 0
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Pediatrics and Neonatology
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