The Turkish journal of pediatrics最新文献

Background: Endocan (endothelial cell-specific molecule-1) is a soluble dermatan sulfate proteoglycan of the extracellular matrix released into the circulation by vascular endothelial cells and involved in vascular processes in which endothelial cell activation occurs. In this study, we aimed to evaluate serum and urinary endocan levels in children with hemolytic uremic syndrome (HUS) during the acute disease and follow-up period, compared with controls, and to evaluate associated clinical and laboratory parameters.

Methods: Children were evaluated in three groups: HUS patients in the active stage (Group 1, HUS-active stage, n=15), HUS patients followed until the resolution of active disease (Group 2, HUS-follow-up, n=10) and healthy controls (Group 3, n=15). Clinical parameters and renal outcomes were compared between the groups based on serum and urinary endocan levels.

Results: The pairwise group comparisons of the urinary endocan levels (median; Q1-Q3) revealed statistically significant differences between Group 1 (2148; 1592-3068 ng/gCr) and Group 2 (1274; 733-1565 ng/gCr), and between Group 1 and Group 3 (954; 517-1966 ng/gCr) (P0.05). The serum endocan level showed no statistically significant difference between the groups (p>0.05). When all groups were evaluated together, urinary endocan level showed positive correlations with white blood cell counts (r= 0.63, P.

Background: Anemia in infancy is a frequent clinical challenge, often attributed to nutritional deficiencies. However, persistent or unexplained anemia warrants further investigation. In this case report, we describe an infant in whom anemia was first identified at six months of age; however, the underlying etiology became apparent only after the development of elevated serum creatinine and hyperuricemia.

Case presentation: We present a 1.7-year-old boy with persistent normocytic anemia, hyperuricemia, and elevated creatinine, initially evaluated for hematologic causes without a clear diagnosis. Despite normal growth, laboratory findings revealed hypouricosuria, hyposthenuria, and mildly decreased kidney function. Imaging and immunologic work-up were unremarkable. Due to multisystem involvement, genetic testing was performed and identified a heterozygous variant in REN gene, suggesting a potential link to autosomal dominant tubulointerstitial kidney disease (ADTKD). Due to persistent anemia refractory to iron therapy, erythropoietin was initiated at a dose of 0.50 µg/kg/week, resulting in a 1.9 g/dL increase in hemoglobin after one month. The family was appropriately informed about the chronic nature of the kidney disease, and a lifelong follow-up strategy was established.

Conclusion: This case underscores the importance of considering ADTKD in pediatric patients presenting with unexplained anemia and mild kidney impairment, even in the absence of a family history. Early diagnosis can prevent unnecessary procedures such as kidney biopsy, allow the timely initiation of supportive treatments, and improve long-term outcomes. Pediatricians, pediatric hematologists and pediatric nephrologists should be aware of this diagnostic possibility, particularly when anemia is accompanied by hyperuricemia and elevated creatinine in infancy.

Background: Abdominal migraine is often considered a rare cause of chronic abdominal pain in children, but its true prevalence in specialized care and the specificity of current diagnostic criteria are not well understood. We aimed to determine the frequency of abdominal migraine in a tertiary pediatric gastroenterology clinic and to evaluate the diagnostic challenges posed by symptom overlap.

Methods: In this prospective study, 160 children (ages 5-18 years) with chronic recurrent abdominal pain were evaluated and followed for six months. Following comprehensive clinical, laboratory, and endoscopic assessments, patients were assigned to one of three final diagnostic groups: abdominal migraine, other disorders of gut-brain interaction (DGBI), or organic disease.

Results: The cohort of 160 patients was predominantly female (62.5%; mean age 11.6 ± 4.0 years). Abdominal migraine was the final diagnosis in 8.1% (n=13) of patients. Compared to the other groups, abdominal migraine was characterized by significantly longer pain duration (p = 0.001) and a higher prevalence of stress as a trigger. A key finding was the high rate of diagnostic overlap: 14.5% of patients with other DGBIs and 26.8% of patients with organic disease also fulfilled the Rome IV criteria for abdominal migraine. In these cases, a comprehensive evaluation identified a more appropriate primary diagnosis.

Conclusions: Abdominal migraine is a key diagnosis for unexplained pediatric abdominal pain, but its criteria lack specificity due to symptom overlap. A definitive diagnosis, therefore, requires a thorough clinical evaluation that extends beyond a symptom-based checklist to prevent misdiagnosis.

Background: Celiac disease is an immune-mediated disorder known to manifest not only with gastrointestinal symptoms but also with a wide range of extraintestinal features, including neuropsychiatric conditions.

Case presentation: We describe the case of a 4-year-old girl who presented with isolated stuttering. Serologic tests revealed elevated anti-tissue transglutaminase antibodies, and a diagnosis of celiac disease was confirmed by duodenal biopsy. A strict gluten-free diet was initiated. The patient's speech disorder began to improve by the sixth month of treatment and resolved completely by the twelfth month of dietary adherence.

Conclusion: This case highlights the importance of considering celiac disease in the differential diagnosis of speech disorders in pediatric patients, especially when no other underlying cause is identified.

Background: We aimed to determine the risk factors for retinopathy of prematurity (ROP) and investigate the effects of the expanded screening criteria according to the 2021 update of the Turkish Neonatology Society guidelines on the clinical outcomes of premature infants and the incidence of severe ROP.

Materials and method: Patient records of infants treated in the neonatal intensive care unit (NICU) between January-December 2020 and January-December 2023, who were identified as at-risk for ROP were retrospectively analyzed. Infants with severe ROP were compared with those without ROP or with mild ROP not requiring treatment in terms of risk factors.

Results: Among the cohort of 169 patients at risk of ROP, the median gestational age was 30.2 (interquartile range [IQR]: 27.4-32.1) weeks and the median birth weight was 1354 g (IQR: 920-1760). Severe ROP was detected in 2.9% (n=5) of the premature infants included in the study. When comparing the periods before and after the 2021 guideline update, the incidence of severe ROP was found to be 3.7% vs. 2.2%, respectively (p=0.085). After the 2021 update, the number of infants examined at ≥33 weeks increased approximately 2.5-fold, but no severe ROP was detected in this group. Small gestational age, low birth weight, multiple erythrocyte suspension transfusions, patent ductus arteriosus, prolonged oxygen duration, and prolonged invasive mechanical ventilation were found to be statistically significant risk factors for severe ROP (p.

Background: Inherited renal hypomagnesemia is rare but may indicate an underlying genetic condition, and it should be considered when evaluating unexplained hypomagnesemia. 17q12 deletion syndrome, a recurrent microdeletion including HNF1B (hepatocyte nuclear factor 1 beta) and neighboring genes such as LHX1 (LIM homeobox 1) and ACACA (acetyl-CoA carboxylase alpha), is associated with renal magnesium wasting, neurodevelopmental deficits, and multi-organ involvement. However, spinal cord anomalies, particularly syringomyelia, have not been reported to date.

Case presentation: A 12-year-old girl was referred to our pediatric nephrology department with frequent urination. Her medical history included neurodevelopmental delay, scoliosis, and behavioral abnormalities. Laboratory tests showed a serum magnesium level of 1.5 mg/dL and an elevated fractional urine magnesium excretion of 4.1%. Serum glucose, aspartate transaminase, and alanine transaminase were mildly elevated. There were no structural anomalies on urinary ultrasound and cranial magnetic resonance imaging (MRI). Radiological investigations revealed thoracolumbar scoliosis on spinal X-ray and a central syrinx extending from T3 to T6 levels on thoracic spinal MRI. Chromosomal microarray analysis identified a 1.4 Mb deletion at chromosome 17q12, which contains the HNF1B gene, confirming the diagnosis of 17q12 deletion syndrome. Oral magnesium supplementation was initiated, and the patient was referred to a multidisciplinary care team.

Conclusions: This case highlights the importance of considering genetic etiologies, particularly 17q12 deletion syndrome, in children presenting with persistent hypomagnesemia and neurodevelopmental delay. Recognizing electrolyte imbalances, despite the absence of renal structural abnormalities, and identifying coexisting spinal cord anomalies, such as syringomyelia, may guide timely genetic evaluation and enable earlier diagnosis.

Background: Human herpesvirus 6 (HHV-6) is occasionally detected in the cerebrospinal fluid (CSF) of young children, but its clinical significance remains uncertain. This study aimed to describe HHV-6-positive cases and to explore features that may help distinguish presumed infection from bystander detection.

Methods: We retrospectively reviewed pediatric patients with CSF HHV-6 detected by multiplex polymerase chain reaction or the FilmArray Meningitis/Encephalitis (FA-ME) panel between January 2015 and March 2025 at a single tertiary hospital. Cases were categorized as presumed HHV-6 infection or bystander detection based on clinical features and the presence of alternative pathogens or diagnoses. Clinical and laboratory findings were compared between the two groups.

Results: Among 1,865 children tested, HHV-6 was detected in 25 (1.3%; median age, 6 months), all of whom presented with fever. Seizures occurred in seven (28%) and ataxia in one (4%). Two patients developed encephalitis; one had abnormal imaging and later developed epilepsy. Seventeen patients were classified as presumed infection. In this group, rash was more prevalent (59% vs. 13%, p = 0.04), neutrophil and platelet counts were lower at admission and declined further at follow-up (p < 0.05), and aspartate aminotransferase (AST) levels were higher (p < 0.01) than those in the bystander infection group. CSF pleocytosis did not differ significantly between groups. Two patients received ganciclovir; both had HHV-6 detected early by the FA-ME panel, and one was subsequently diagnosed with bacterial sepsis.

Conclusions: HHV-6 encephalitis was uncommon. Rash, changes in neutrophil and platelet counts, along with elevated AST levels may help interpret CSF HHV-6 detection, but these findings require validation in larger studies incorporating virologic confirmation.

Background: Pediatric sepsis is a heterogeneous syndrome; data on early biomarker kinetics and their link to severity are scarce.

Methods: We prospectively enrolled 80 children with sepsis (March 2022 - June 2024). C-reactive protein (CRP), procalcitonin (PCT), erythrocyte sedimentation rate (ESR), interleukin-6 (IL-6), serum amyloid-A (SAA), and D-dimer were measured at admission (T0), 72 hours (T1) later and on Day 7 (T2). Disease severity was assessed using the pediatric Sequential Organ Failure Assessment (pSOFA); length of stay (LOS) was recorded. Baseline values, Day 7 levels, and changes Δ(T2-T0) were correlated with pSOFA and LOS.

Results: Baseline inflammatory profiles differed by etiology: median CRP and PCT on admission were roughly doubled in bacterial versus viral disease, while IL‑6 was highest in respiratory and abdominal infections. Nevertheless, all six markers decreased significantly over seven days (p ≤ 0.015) and the proportional declines were uniform across pathogens or foci (interaction p > 0.18). Higher admission CRP, PCT, IL‑6 and D‑dimer modestly correlated with greater organ dysfunction (r ≤ 0.55), whereas steeper week‑long falls in the same markers tracked with larger pSOFA improvement (r = -0.41 to -0.53; all p ≤ 0.002). SAA showed a weaker inverse association (r = -0.32, p = 0.008), whereas the decline in ESR was not significant. A pragmatic two‑step algorithm (admission CRP  ≥ 60 mg/L, PCT  ≥ 3 ng/mL, IL‑6  ≥ 200 pg/mL or D‑dimer  ≥ 1.5 mg/L; plus a ≥ 50% drop in IL‑6 or PCT within 72 h) identified children who ultimately required intensive care unit (ICU) care or stayed ≥ 7 days with an area‑under‑the‑curve of 0.91.

Conclusions: Both initial elevations and early declines in CRP, PCT, IL-6 and D-dimer mirror organ dysfunction and hospitalization duration in pediatric sepsis. Serial monitoring of these readily available markers may improve early risk stratification and guide therapy.

Background: Febrile neutropenia is a common cause of hospital admissions among pediatric cancer patients. To optimize personalized approaches for hospitalization and antibiotic treatment, risk stratification has been proposed. This study aimed to explore the impact of clinical and laboratory parameters on risk stratification for patient discharge.

Methods: This prospective study included pediatric lymphoma and solid tumor patients who were hospitalized due to febrile neutropenia between June 2018 and June 2019. Patient characteristics, primary oncological diagnosis and disease status, comorbid conditions, time elapsed after the last course of chemotherapy, use of granulocyte-colony stimulating factor (G-CSF) prophylaxis, presence of port catheter, infection type, fever values/duration, physical examination findings, and duration of neutropenia were collected. Laboratory investigations including complete blood counts, acute phase reactants at the onset of the episode, culture results were also recorded.

Results: The study examined 142 febrile neutropenic episodes from 88 consecutive patients. The median age of the study group was 6.8 years, with 19.3% of cases being lymphoma and 80.7% having solid tumors. The median hospital stay was 7 days. Factors associated with longer hospitalization periods included a lymphoma diagnosis, presence of comorbid conditions, bone marrow involvement, and febrile neutropenic period during hospitalization. Patients presenting with fever ≥ 39 °C at admission, poor general appearance, hypotension, prolonged capillary filling time, and severe infection signs had longer hospital stays. In febrile neutropenic episodes, absolute monocyte count ≤ 100 cells/mm3, platelet count ≤ 50,000/mm3, and prolonged neutropenia delayed discharge time. Patients with microbiologically defined infections, especially those with positive catheter cultures, also had delayed discharge.

Conclusion: The diagnosis of lymphoma, poor general condition at admission, presence of microbiologically defined infection, thrombocytopenia, delayed recovery of absolute neutrophil counts, and prolonged fever duration were significant factors in determining the treatment duration and predicting discharge time.

Background: Food allergy is a public health concern affecting quality of life and increasing in prevalence. Numerous studies suggest that the rapid increase in the prevalence of allergic diseases may be linked to epigenetic mechanisms, particularly microRNA (miRNA), long non-coding RNA (lncRNA). The aim of this study was to investigate the effects of oxidative stress and selected non-coding RNAs on the development and pathogenesis of food allergy.

Methods: A total of 26 children with food allergy and 30 healthy children were enrolled in this study. Real-time polymerase chain reaction (RT-PCR) was performed to detect the expressions of serum miR-19a, miR-98 and lncRNA metastasis-associated lung adenocarcinoma transcript 1 (MALAT1) in all the participants. Serum levels of interleukin-4 (IL-4), IL-10, IL-13 and transforming growth factor beta (TGF-β), along with levels of oxidative stress markers 8-isoprostane and cysteinyl leukotrienes, were measured by enzyme-linked immunosorbent assay.

Results: Our study found that the expression of miR-98 was significantly lower in children with food allergies compared to healthy controls (p < 0.05), whereas there was no significant difference in the expression levels of miR-19a between the two groups (p > 0.05). There was no difference in gene expression levels (p > 0.05) of lncRNA MALAT1 between children with food allergies and healthy children. TGF-β levels of healthy children were found to be significantly higher than those of children with food allergies (p < 0.05). There was no statistical difference in cysteinyl leukotriene levels between patients and controls (p = 0.804). However, 8-isoprostane levels were significantly lower in patients (6.68 pg/mL; interquartile range [IQR]: 1.57-26.55) compared to controls (37.20 pg/mL, IQR: 18.55-167.58) (p < 0.001).

Conclusions: Considering our findings in conjunction with existing literature, miR-98 appears to be a promising candidate biomarker for food allergy.