Mutations in adenosine triphosphate-binding cassette transporter A3 (ABCA3) (OMIM: 601615) gene constitute the most frequent genetic cause of severe neonatal respiratory distress syndrome (RDS) and interstitial lung disease (ILD) in children. Interstitial lung disease in children and especially in infants, in contrast to adults, is more likely to appear as a result of developmental deficits or is characterized by genetic aberrations of pulmonary surfactant homeostasis not responding to exogenous surfactant administration. The underlying ABCA3 gene mutations are commonly thought, regarding null mutations, to determine the clinical course of the disease while there exist mutation types, especially missense variants, whose effects on surfactant proteins are difficult to predict. In addition, clinical and radiological signs overlap with those of surfactant proteins B and C mutations making diagnosis challenging. We demonstrate a case of a one-term newborn male with lethal respiratory failure caused by homozygous missense ABCA3 gene mutation c.3445G>A (p.Asp1149Asn), which, to our knowledge, was not previously reported as a causative agent of newborn lethal RDS. Therapeutic strategies for patients with ABCA3 gene mutations are not sufficiently evidence-based. Therefore, the description of the clinical course and treatment of the disease in terms of a likely correlation between genotype and phenotype is crucial for the development of the optimal clinical approach for affected individuals.

Aim: To evaluate the predictive value of perinatal factors and neurodevelopmental evaluation in the emotional and behavioural outcomes in preterm‐born children at 7–9 years of age.Methods: We evaluated the Strengths and Difficulties Questionnaire (SDQ) extended score at 8.2 ± 0.2 years, among 70 preterm‐born children (32 early and 38 moderately preterms) with a previous Bayley‐III neurodevelopmental evaluation.Results: Early compared to moderately preterms had a higher total SDQ (12 compared to 8, p = 0.031), and emotional symptoms score (4 compared to 3, p = 0.022); no significant differences were recorded in abnormal/borderline‐scored children between the two groups. The total SDQ and emotional symptoms scores were significantly correlated with gestational age, birth weight, perinatal factors and the cognitive and motor Bayley‐III scores. Early prematurity was associated with the total SDQ score (beta 2.09, 95% CI 1.32, 3.87), and the score of emotional symptoms (beta 1.70, 95% CI 1.38, 2.19), after adjusting for sex, neonatal sepsis and the existence of an older sibling.Conclusion: Prematurity, birth weight, perinatal factors and the cognitive and motor Bayley‐III scores were significantly associated with the total SDQ and the emotional symptoms score, in preterm‐born children.

Background: Advances in neonatal care have improved survival rates in preterm neonates. However, concerns persist regarding the long-term kidney implications of prematurity. Nephrogenesis is disrupted, particularly in those born very preterm (≤ 32 weeks of gestation), increasing the risk of early kidney dysfunction and hypertension later in life. Objectives: This systematic review and meta-analysis aimed to evaluate kidney health outcomes in former very preterm children and adolescents compared to full-term peers. Data sources: A systematic literature search was conducted in MEDLINE/PubMed, Scopus, and Web of Science from their earliest available records to October 9, 2024. Study eligibility criteria: We included observational studies comparing kidney health parameters between children/adolescents born very preterm (gestational age – GA ≤ 32 weeks) and their full-term counterparts (gestational age > 36 weeks or birth weight > 2000 g) within the age range of 6 to 18 years. Participants and interventions: Children and adolescents aged 6–18 years born very preterm were compared to their full-term counterparts. The analyzed kidney function markers included serum Cystatin C, serum creatinine (sCr), estimated glomerular filtration rate (eGFR) based on sCr (Cr-eGFR), and blood pressure (systolic and diastolic, SBP/DBP). Study appraisal and synthesis methods: The Newcastle–Ottawa Scale was used to assess study quality. The mean difference with 95% confidence intervals was used for continuous outcomes. Statistical significance was set at p < 0.05. Sensitivity, subgroup and meta-regression analyses were conducted for further exploration of the outcomes. Statistical analyses were performed using R software (Version 4.3.2). Results: Thirteen studies (16 reports; 2,112 participants) were included. Very preterm children and adolescents had higher serum Cystatin C (0.05 mg/L; 95%CI: 0.02–0.08), lower Cr-eGFR (-11.87 mL/min/1.73 m ² ; 95%CI: -22.44 to -1.31), and higher SBP (1.96 mmHg; 95%CI: 0.21–3.71). Sensitivity analysis confirmed Cystatin C findings but rendered Cr-eGFR and SBP differences non-significant. Subgroup analysis showed a significant GA effect on sCr ( p < 0.0001), though the ≥ 28 weeks subgroup included only two studies. Limitations: Considerable heterogeneity across studies persisted despite sensitivity and subgroup analyses. The lack of randomized controlled trials and longitudinal studies limits result interpretation, while non-significant meta-regression findings hinder full explanation of heterogeneity. Insufficient data prevented the assessment of additional kidney function parameters. Conclusions and implications of key findings: Cystatin C was elevated in very preterm individuals compared to full-term peers, reinforcing its role as an early marker of kidney dysfunction. While differences in Cr-eGFR and SBP lost significance after sensitivity analysis, these markers remain relevant for long-term follow-up in this vulnerable population. Systematic review registration number: PROSPERO (CRD42024554702). Graphical

Background: Prematurity has been linked to kidney dysfunction from infancy through adulthood. Children born very preterm are at particular risk due to interrupted nephrogenesis. However, early detection remains challenging, and a uniform monitoring strategy is lacking. Methods: This cross-sectional study involved school-aged (6–16 years) children born at ≤ 32 weeks of gestation, with no history of small for gestational age (SGA). They were further stratified by birth weight (BW): low, very low, and extremely low (LBW, VLBW, ELBW) categories. Age- and sex-matched full-term children served as controls. Anthropometry, blood pressure (BP), and kidney function were assessed, using traditional (urea; creatinine, Cr; β2-microglobulin, B2M; albuminuria) and modern biomarkers (cystatin C, CysC; symmetric dimethylarginine, SDMA). Estimated glomerular filtration rate (eGFR) based on Cr and Cr-CysC was also calculated. Statistical analysis was performed using R (version 4.3.2), with significance set at p < 0.05. Results: Eighty-one children were included: 43 preterm (77% from multiple pregnancies) and 38 controls. Compared to controls, preterm participants had higher serum cystatin C ( p < 0.001) and lower Cr-CysC-eGFR ( p < 0.001). They also had higher serum urea ( p = 0.002), but all individual values were within the normal range. No differences were observed in BP, serum Cr, Cr-eGFR, or albuminuria. ELBW children had lower body mass index (BMI) ( p = 0.048) and higher B2M ( p = 0.046) than LBW peers. Conclusions: School-aged children born very preterm may already exhibit subtle signs of kidney dysfunction, with ELBW children showing greater metabolic and renal strain. Cystatin C and Cr-CysC-eGFR appear promising biomarkers for early detection of kidney alterations in this high-risk population. Graphical

Background: Chorioamnionitis (CA) is a major pathological cause of preterm labor and is associated with both short- and long-term adverse outcomes in neonates, including early-onset sepsis (EOS) and late-onset sepsis (LOS). Neonatal sepsis remains a significant contributor to morbidity and mortality in neonatal intensive care units (NICUs). Aim: This study aimed to evaluate the association between maternal chorioamnionitis and the incidence of early-onset and late-onset neonatal sepsis in preterm neonates born at <32 weeks’ gestation. Furthermore, the study investigated maternal and neonatal factors affecting the presentation of sepsis. Methods: A retrospective cohort study was conducted on the medical records of preterm neonates born between 2020 and 2022. Inclusion criteria were gestational age < 32 weeks, available microbiological or histological examination for chorioamnionitis, and complete maternal medical records. Infants were categorized into two groups based on the presence (CA group) or absence (non-CA group) of histological and/or microbial chorioamnionitis. Descriptive statistical analyses were performed, including calculation of frequencies and percentages for categorical variables and means with standard deviations and ranges for continuous variables. Results: A total of 189 neonates were included, with a mean birth weight of 1286 ± 405 g and a mean gestational age of 29.2 ± 2.1 weeks. The CA group consisted of 55 neonates (29.1%), while 134 (70.9%) were in the non-CA group. Early-onset sepsis (EOS) occurred in 23 neonates (12.2%), with a significantly higher incidence in the CA group compared to the non-CA group (21% vs. 8%, p = 0.014). Late-onset sepsis (LOS) developed in 66 neonates (34.9%), but no significant difference in incidence was observed between the two groups (p = 0.402). Parsimonious logistic regression analysis identified maternal chorioamnionitis as an independent predictor of EOS (Odds Ratio 2.07, 95% CI 1.85–5.08; p = 0.009). Conclusions: Intrauterine infection and inflammation caused by chorioamnionitis are linked to an increased risk of early-onset sepsis in neonates born before 32 weeks’ gestation. However, chorioamnionitis does not appear to significantly influence the incidence of late-onset sepsis, which appears to be more closely associated with postnatal factors.