The Turkish journal of pediatrics最新文献

{"title":"Household transmission and carriage of Shiga toxin-producing <i>Escherichia coli</i> (STEC) O145, Stx1c: a family report.","authors":"Elif Okumuş, Aynur Karadenizli","doi":"10.24953/turkjpediatr.2025.5806","DOIUrl":"10.24953/turkjpediatr.2025.5806","url":null,"abstract":"<p><strong>Background: </strong>Infections induced by Shiga toxin-producing Escherichia coli (STEC), especially non-O157 serogroups like O145, pose considerable public health risks. Household transmission is crucial in the dissemination of STEC, particularly in settings characterized by close interaction, such as extended families. This study examines a case of a 5-month-old infant with hemolytic uremic syndrome (HUS) attributed to stx1c-positive STEC and analyzes transmission patterns within the household.</p><p><strong>Methods: </strong>Perianal swab samples were obtained from a 5-month-old infant diagnosed with STEC-associated HUS and six additional household members. Samples of breast milk were examined as well. Samples were inoculated into sorbitol MacConkey agar (SMAC) and cefixime tellurite sorbitol MacConkey agar (CT-SMAC). Polymerase chain reaction (PCR) was utilized to identify stx1, stx2, and O serogroups. Fecal shedding was investigated over a four-month period with repeated sampling.</p><p><strong>Results: </strong>Six household members, including the infant, tested positive for stx1, although the mother and breast milk samples were negative. The detected strains were classified within the O145 serogroup and exhibited the stx1c variation. Fecal shedding continued for up to four months in the majority of family members, with the infant exhibiting the briefest length of shedding. The family indicated regular intake of raw meatballs (\"çiğköfte\"), a traditional Turkish food, made with raw meat, identified as a possible source of illness. None of the family members displayed any symptoms except for the infant, who had severe HUS.</p><p><strong>Conclusion: </strong>This study underscores the critical impact of household transmission on the dissemination of STEC and the hazards associated with traditional raw meat meals such as çiğköfte. Non-O157 STEC serogroups, including O145, are increasingly recognized as significant agents of human infections. The results underscore the significance of monitoring, hygiene education, and preventive strategies to mitigate the dissemination of STEC in families and the wider community. Mitigating extended fecal shedding and detecting foodborne transmission sources are essential for effective public health intervention.</p>","PeriodicalId":101314,"journal":{"name":"The Turkish journal of pediatrics","volume":"67 3","pages":"410-416"},"PeriodicalIF":0.0,"publicationDate":"2025-07-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144661587","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Neonatal-onset citrin deficiency: long-term outcomes in four cases and identification of a novel variant.","authors":"Arzu Selamioğlu, Şebnem Kılıç, Ayça Dilruba Aslanger, Meryem Karaca, Mehmet Cihan Balcı, Zehra Oya Uyguner, Gülden Gökçay","doi":"10.24953/turkjpediatr.2025.5604","DOIUrl":"10.24953/turkjpediatr.2025.5604","url":null,"abstract":"<p><strong>Background: </strong>Citrin deficiency (CD), caused by mutations in the SLC25A13 gene, is a rare autosomal recessive urea cycle disorder with variable clinical presentations depending on age. These include neonatal intrahepatic cholestasis (NICCD), failure to thrive with dyslipidemia, and adult-onset type II citrullinemia. Patients with NICCD typically present with transient intrahepatic cholestasis in infancy, which often resolves spontaneously by one year of age; however, some may progress to severe complications later in life.</p><p><strong>Case presentation: </strong>Four cases diagnosed with NICCD phenotype are presented. All patients presented with neonatal cholestasis, hypertransaminasemia, galactosuria, and elevated citrulline levels. Molecular analysis identified three disease-causing variants: two previously reported variants, c.955C>T (p.Arg319*) and c.74C>A (p.Ala25Glu), and a novel variant, c.1359G>T (p.Lys453Asn). Treatment included a galactose-free formula, medium-chain triglycerides, and nutritional supplementation, resulting in biochemical and clinical improvement. All patients in our series exhibited a milder clinical course, with no episodes of hyperammonemia or hypoglycemia, no progression to liver failure, and favorable long-term outcomes with dietary management. During a long-term follow-up period ranging from 7 to 11 years, no severe complications were observed. Notably, one patient developed a recurrence of cataract, emphasizing the importance of lifelong dietary adherence and regular eye examinations.</p><p><strong>Conclusions: </strong>The findings in this paper further expand the genotypic spectrum and genotype-phenotype correlations of CD. Lifelong follow-up is recommended, including ocular examination.</p>","PeriodicalId":101314,"journal":{"name":"The Turkish journal of pediatrics","volume":"67 3","pages":"417-427"},"PeriodicalIF":0.0,"publicationDate":"2025-07-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144661588","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Successful viral suppression in a two-year-old child with human immunodeficiency virus infection treated with bictegravir/emtricitabine/tenofovir alafenamide.","authors":"Coskun Ekemen, Asli Arslan, Emine Cigdem Ozer, Selda Erensoy, Zumrut Sahbudak Bal, Gulhadiye Avcu","doi":"10.24953/turkjpediatr.2025.5998","DOIUrl":"10.24953/turkjpediatr.2025.5998","url":null,"abstract":"<p><strong>Background: </strong>Adherence to antiretroviral therapy (ART) is a major challenge in pediatric human immunodeficiency virus (HIV) management, especially in young children due to medication formulation, administration difficulties, and psychosocial barriers. Single-tablet regimens (STRs) have been shown to improve adherence and viral suppression in adults and adolescents, yet their use in younger children remains limited. Bictegravir/emtricitabine/tenofovir alafenamide (BIC/FTC/TAF) is an STR with a high genetic barrier to resistance, making it a promising option for pediatric patients with adherence difficulties.</p><p><strong>Case presentation: </strong>We report a case of a 2-year-old girl with perinatally acquired HIV who experienced persistent viremia despite multiple ART regimens. The mother received zidovudine prophylaxis during delivery, and the infant was started on zidovudine (AZT) prophylaxis on the first day of life. The patient's ART history included AZT monotherapy at birth, followed by combination therapy with lamivudine (3TC), lopinavir/ritonavir (LPV/r), and later tenofovir/emtricitabine (TDF/FTC) with dolutegravir (DTG). Despite these regimens, poor adherence related to medication administration difficulties and caregiver challenges contributed to persistent viremia. A multidisciplinary team approach was implemented to address adherence barriers. Given the patient's ongoing virological failure and resistance mutations (L76V and V179E), off-label use of BIC/FTC/TAF (50mg/200mg/25mg) was approved. The dosage was adjusted based on weight, and medication administration was closely monitored. Within one month of treatment, HIV RNA levels significantly declined from 1,800,000 to 207 copies/mL. Viral suppression was maintained over subsequent three-month intervals, with HIV RNA levels of 35, 40, and 43 copies/mL, alongside immune recovery as indicated by increased CD4 counts.</p><p><strong>Conclusion: </strong>The successful off-label use of BIC/FTC/TAF in a treatment-refractory pediatric HIV case highlights its potential efficacy in young patients facing adherence challenges. Its high genetic barrier to resistance and favorable tolerability make it a promising option when standard therapies fail. Further research is needed to optimize pediatric ART strategies and expand access to STRs globally.</p>","PeriodicalId":101314,"journal":{"name":"The Turkish journal of pediatrics","volume":"67 3","pages":"433-439"},"PeriodicalIF":0.0,"publicationDate":"2025-07-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144661590","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Association of socio-demographic factors with measles vaccination coverage among Indonesian children aged 12-23 months: a nationwide study.","authors":"Asep Hermawan, Irlina Raswanti Irawan, Mirna Widiyanti, Rosnani Rosnani, Hidayat Arifin","doi":"10.24953/turkjpediatr.2025.5886","DOIUrl":"10.24953/turkjpediatr.2025.5886","url":null,"abstract":"<p><strong>Background: </strong>This study aimed to examine the socio-demographic factors associated with measles vaccination coverage among Indonesian children aged 12-23 months, using data from a nationally representative survey.</p><p><strong>Methods: </strong>A cross-sectional analysis was conducted using the 2018 Indonesian Basic Health Survey (Riskesdas), including 19,425 children aged 12-23 months. Multivariate logistic regression was used to identify factors associated with measles vaccination status, and subgroup analyses were performed across three regional clusters.</p><p><strong>Results: </strong>Of the children surveyed, 73.46% had received measles vaccination, 68.14% had at least one antenatal care visit per trimester, and 53.59% had received at least one postnatal care visit. The most significant predictors of measles vaccination were frequent postnatal care (AOR: 2.36, 95% CI: 1.86-2.99) and higher maternal education (AOR: 2.31, 95% CI: 1.30-4.10). Other associated factors included the age and employment status of the head of the household (as defined by the Riskesdas study), travel time to healthcare facilities, household expenditure, and urban-rural residence.</p><p><strong>Conclusion: </strong>Utilization of postnatal care and higher maternal education were key determinants of measles vaccination coverage. Improving maternal healthcare access and promoting female education may enhance vaccination uptake among Indonesian children.</p>","PeriodicalId":101314,"journal":{"name":"The Turkish journal of pediatrics","volume":"67 3","pages":"304-316"},"PeriodicalIF":0.0,"publicationDate":"2025-07-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144661567","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Change in Gasdermin-D gene expression in familial Mediterranean fever compared to healthy children with or without acute infections.","authors":"Pınar Özge Avar Aydın, İsmail Yaz, Dilan İnan, Zeynep Birsin Özçakar, Sevil Oskay Halaçlı, Deniz Çağdaş","doi":"10.24953/turkjpediatr.2025.5389","DOIUrl":"10.24953/turkjpediatr.2025.5389","url":null,"abstract":"<p><strong>Background: </strong>Gasdermin-D (GSDMD) is an inflammasome regulator. Pyroptosis and GSDMD-mediated interleukin (IL)-1β secretion abolish in GSDMD-deficient familial Mediterranean fever (FMF) knock-in mice. We aimed to investigate GSDMD gene expression (GSDMD-∆), acute phase reactants (APRs), serum IL-1β, and IL-18 levels in FMF patients during attacks and attack-free periods.</p><p><strong>Methods: </strong>We tested GSDMD-∆, serum APRs, and serum IL-1β and IL-18 in 16 FMF patients (G1), during attack (G1-V1) and at attack-free visits (G1-V2). The GSDMD-∆, serum IL-1β and IL-18 were measured in febrile controls with acute infections (G2) and healthy children (G3).</p><p><strong>Results: </strong>Age and sex distribution of patients and controls were similar. Median GSDMD-∆ was 10 times higher in G1-V1 compared to G1-V2 (p0.05). GSDMD-∆ in G1 strongly correlated with serum C-reactive protein and amyloid-A (r>0.60, p0.05).</p><p><strong>Conclusion: </strong>We showed a significantly increased GSDMD-∆ for the first time in humans, thereby indicating the distinct role of GSDMD-∆ as a biomarker similar to APRs in FMF attacks. It was even higher than levels detected during acute infections, supporting the functional involvement of GSDMD-∆ in FMF attacks. GSDMD-∆ correlated with APRs but not with serum IL-1β and IL-18 levels.</p>","PeriodicalId":101314,"journal":{"name":"The Turkish journal of pediatrics","volume":"67 3","pages":"361-371"},"PeriodicalIF":0.0,"publicationDate":"2025-07-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144661569","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Off-label use of recombinant factor VIIa for neonatal pulmonary hemorrhage; a single-center experience.","authors":"Özge Serçe Pehlevan, Ayna Atayeva, Ayla Günlemez, Sibel Balcı","doi":"10.24953/turkjpediatr.2025.5532","DOIUrl":"10.24953/turkjpediatr.2025.5532","url":null,"abstract":"<p><strong>Background: </strong>Pulmonary hemorrhage (PH) leads to acute and catastrophic deterioration in neonates, and there is no curative treatment available. Off-label use of recombinant Factor VIIa (rFVIIa) is a promising treatment to control bleeding. The aim of this study was to investigate the efficacy and safety of rFVIIa in neonatal massive PH.</p><p><strong>Methods: </strong>We used rFVIIa for PH in our neonatology unit during October 2022. We compared demographic and prognostic data of neonates with PH, for two years prior to and following this time point. Intravenous rFVIIa (50-90 μg/kg/dose) was administered to patients with life-threatening PH that was unresponsive to conventional therapies including surfactant administration, vitamin K treatment, blood product transfusion, increasing airway pressure, high frequency ventilation, and endotracheal adrenaline. Potential side effects, such as thromboembolism, were monitored for one week.</p><p><strong>Results: </strong>We present 16 neonates (7 females; 14 preterm) treated with rFVIIa in addition to conventional treatments and compared their clinical outcomes with the rFVIIa-untreated group (n=21). Median (interquartile range [IQR]) birth weight (960 [775-2377] vs 910 [710-1360] g, p=0.20) and gestational age (29 [27-32] vs 27 [27-29] weeks, p=0.25) did not significantly differ between the groups. Median (IQR) postnatal day of PH occurrence was 7.5 (3-15) in the rFVIIa-treated group and 3 (1.5-6) in the rFVIIa-untreated group (p=0.019). Overall, six neonates died of PH complications in the intervention group. All neonates responded to rFVIIa to varying degrees (cessation of bleeding, n=11; reduced bleeding, n=5). A second dose was required in three. No thromboembolism was observed during the treatment period. Death attributable to PH [6 (37%) vs 16 (76%), p=0.042] and overall mortality (7 [43%] vs 18 [86%], p.</p>","PeriodicalId":101314,"journal":{"name":"The Turkish journal of pediatrics","volume":"67 3","pages":"327-337"},"PeriodicalIF":0.0,"publicationDate":"2025-07-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144661589","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Evaluating the reliability and validity of the Turkish version of the Parents' Perceptions of Uncertainty Scale (PPUS-TR).","authors":"Melike Ayça Ay Kaatsız, Simay Ezgi Budak","doi":"10.24953/turkjpediatr.2025.5470","DOIUrl":"10.24953/turkjpediatr.2025.5470","url":null,"abstract":"<p><strong>Background: </strong>The disease process can negatively affect both children and their parents, causing them to experience uncertainty. This study aims to determine whether the Turkish version of the Parents' Perceptions of Uncertainty Scale (PPUS) is a valid and reliable instrument for measuring Turkish parents' perceptions of uncertainty.</p><p><strong>Methods: </strong>Data were collected from 351 parents. Data collection tools included the Descriptive Data Form, PPUS, and the Brief Symptom Inventory (BSI). Language, face, and content validity, descriptive statistics, internal consistency analyses, explanatory and confirmatory factor analyses, and convergent validity analyses were conducted.</p><p><strong>Results: </strong>The content validity index (CVI) was calculated as 0.96. As a result of the exploratory factor analysis, a four-factor structure with 23 items explaining 57.98% of the total variance was obtained. Confirmatory factor analysis supported the model fit. The Cronbach's alpha coefficient for the final version of the scale was 0.923. Convergent validity showed a significant positive relationship with the BSI (r=0.69).</p><p><strong>Conclusions: </strong>The Turkish version of PPUS (PPUS-TR) was found to be a valid and reliable measurement tool.</p>","PeriodicalId":101314,"journal":{"name":"The Turkish journal of pediatrics","volume":"67 2","pages":"230-241"},"PeriodicalIF":0.0,"publicationDate":"2025-05-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144228250","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Increased serum YKL-40 levels in children with sickle cell disease.","authors":"Veysi Akbey, Selma Ünal, Özlem Tezol, Bahar Taşdelen, Şenay Balcı Fidancı, Feryal Karahan","doi":"10.24953/turkjpediatr.2025.4805","DOIUrl":"10.24953/turkjpediatr.2025.4805","url":null,"abstract":"<p><strong>Background: </strong>YKL-40 is a glycoprotein secreted by various cell lines during inflammation and vascular dysfunction. Sickle cell disease (SCD) also involves inflammation and endothelial dysfunction processes. Thus, we aimed to assess the levels of YKL-40 in pediatric SCD patients.</p><p><strong>Methods: </strong>We evaluated serum levels of YKL-40 in children with steady state SCD and those with vaso-occlusive crisis (VOC) episodes and compared them with healthy subjects.</p><p><strong>Results: </strong>Overall, 33 children with SCD and 33 healthy controls participated in this study. Serum YKL-40 concentrations of children with steady state SCD were significantly higher than the concentrations found in the healthy controls (median [Q1-Q3]: 71.0 [53.3-133.3] vs. 43.6 [37.9-69.9] ng/mL, p=0.001). Seventeen of the 33 children with SCD (51.5%) had a VOC during the one-year follow-up period. Steady state and VOC episode YKL-40 did not significantly differ in children who were experiencing VOC during the one-year follow-up (77.6 [55.2-126.8] vs. 69.7 [49.3-100.0] ng/mL, p=0.381). During VOC episodes, children with SCD had significantly higher YKL-40 levels than the healthy controls (69.7 [49.3-100.0] vs. 43.6 [37.9-69.9] ng/mL, p=0.005). YKL-40 levels at steady state and during VOC episodes did not show significant correlation (p=0.955).</p><p><strong>Conclusions: </strong>YKL-40 may have a potential role in the inflammation component of SCD. Circulating YKL-40 levels may be used to monitor chronic inflammation in SCD patients.</p>","PeriodicalId":101314,"journal":{"name":"The Turkish journal of pediatrics","volume":"67 2","pages":"186-194"},"PeriodicalIF":0.0,"publicationDate":"2025-05-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144228193","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Exploring quality of life and related clinical factors in children with tree nut allergies.","authors":"Zehra Genç Özbay, Ayşegül Akarsu, Ümit Murat Şahiner, Özge Uysal Soyer, Bülent Enis Şekerel","doi":"10.24953/turkjpediatr.2025.5293","DOIUrl":"10.24953/turkjpediatr.2025.5293","url":null,"abstract":"<p><strong>Background: </strong>In Türkiye, tree nut allergy (TNA) is the most common form of food allergy, characterized by persistence and the potential for life-threatening reactions. This study aimed to evaluate the quality of life (QoL) of Turkish children aged 0-12 years with IgE-mediated TNA and explore influential factors, including parental anxiety.</p><p><strong>Materials and methods: </strong>Primary caregiver-parents of children diagnosed with TNA completed the Food Allergy Quality of Life Questionnaire-Parent Form (FAQLQ-PF) and State-Trait Anxiety Inventory (STAI) to assess QoL and parental anxiety, respectively.</p><p><strong>Results: </strong>Of 120 eligible patients diagnosed with TNA, 88 were included in the study. Questionnaires were completed by mothers in 79 cases (90%) and fathers in 9 cases (10%). Parents reported significantly higher FAQLQ-PF scores for children with hazelnut allergy, a history of anaphylaxis, and those who had to use an adrenaline auto-injector. There was significant but weak correlations between FAQLQ-PF and anxiety (STAI) domains. The multivariate linear regression analysis revealed that having a hazelnut allergy, a history of anaphylaxis, and higher parental state anxiety were all associated with higher FAQLQ-PF scores, but fathers tended to report better level of QoL.</p><p><strong>Conclusion: </strong>QoL for children with TNA is influenced by several factors such as adverse life experiences, local and situational factors, and parental anxiety. Understanding these diverse factors is crucial for enhancing the well-being of children with TNA.</p>","PeriodicalId":101314,"journal":{"name":"The Turkish journal of pediatrics","volume":"67 2","pages":"195-207"},"PeriodicalIF":0.0,"publicationDate":"2025-05-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144228251","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Comprehensive analysis of 1103 infants referred to a single center due to positive newborn screening test for phenylketonuria.","authors":"Ayça Burcu Kahraman, Kısmet Çıkı, Begüm Poşul, Mustafa Güvercin, Yılmaz Yıldız, Ali Dursun, Serap Sivri, Turgay Coşkun, Ayşegül Tokatlı","doi":"10.24953/turkjpediatr.2025.5263","DOIUrl":"10.24953/turkjpediatr.2025.5263","url":null,"abstract":"<p><strong>Objective: </strong>Phenylketonuria (PKU) is a prevalent inherited metabolic disorder, resulting from biallelic pathogenic variants in the PAH gene. This study aimed to assess the clinical characteristics of 1103 infants referred to a single center due to positive newborn screening (NBS) tests for PKU, providing insights into screening and diagnosis.</p><p><strong>Methods: </strong>The health records of infants who were referred with suspicion of PKU through the Turkish national NBS program to a single referral center between January 2016 and January 2023 were retrospectively reviewed. The study analyzed demographic data, clinical findings, and diagnostic results from hospital records. Logistic regression analysis identified significant predictors of age at admission.</p><p><strong>Results: </strong>This study highlights significant regional differences within Türkiye regarding DBS collection, result reporting, and age at admission. Significant delays in age at admission (expressed as median, [Q1-Q3]) were noted in the Eastern Anatolia (34 days [27-42]), Southeastern Anatolia [34 days (25-42)], and Black Sea regions [26 days (19-33)]. Out of the referred infants, 5.1% and 2.4% had transient tyrosinemia and transient hyperphenylalaninemia, respectively, and these transient conditions were more prevalent among neonates with a history of jaundice. Phenylalanine level was normal in 38.1% of the patients and was considered false positive. Among the 26 (2.36%) patients admitted after 90 days (late admissions), there were 2 PKU patients with untreated Phe levels >20 mg/dL (n=2). Among the 140 infants requiring treatment, 1.43% (n=2) were late admissions (>90 days). A history of PKU in the family and higher initial Phe levels were associated with earlier admissions.</p><p><strong>Conclusion: </strong>This comprehensive analysis underscores the need to enhance NBS programs, particularly in regions with identified delays. Improving healthcare infrastructure, increasing awareness, and implementing targeted health policies are crucial for timely diagnosis and treatment. Future research should address regional disparities and optimize screening protocols to improve outcomes for affected infants.</p>","PeriodicalId":101314,"journal":{"name":"The Turkish journal of pediatrics","volume":"67 2","pages":"175-185"},"PeriodicalIF":0.0,"publicationDate":"2025-05-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144228243","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}