Pediatrics International最新文献

Background: In high-risk neonates, such as very low birth weight infants or those undergoing abdominal surgery, elevated direct bilirubin (DB) levels are frequently observed. Under such conditions, unbound bilirubin (UB) measured using peroxidase-based analyzers may appear spuriously elevated, complicating clinical interpretation.

Methods: Retrospective analysis was performed on laboratory datasets with complete measurements of total bilirubin (TB), DB, UB, and albumin from January 2021 to December 2023. DB was measured enzymatically using the Nescauto VL D-bil bilirubin oxidase method. Indirect bilirubin (iDB) was calculated as TB minus DB, and its molar ratio to albumin (iDB/albumin) was evaluated for correlation with UB across varying DB levels and DB/TB ratios. Outlier-high UB values were defined as those exceeding the 95% confidence interval of the iDB/albumin ratio within the physiological range (DB < 1 mg/dL and DB/TB < 10%).

Results: A total of 5970 datasets from 1386 neonates were analyzed. As DB levels and DB/TB ratios increased, the correlation between the iDB/albumin ratio and UB weakened, and the regression slope became steeper. The proportion of outlier-high UB values rose significantly: 4.9%, 10.8%, 32.5%, and 92.2% for DB <1, 1-2, 2-3, and ≥3 mg/dL, respectively; and 4.2%, 10.3%, 17.2%, and 51.7% for DB/TB <10%, 10%-20%, 20%-30%, and ≥30%.

Conclusion: UB values tend to rise spuriously as DB increases, particularly when DB ≥2 mg/dL or DB/TB ≥20%. In such situations, estimating UB from the iDB/albumin ratio may provide a more reliable basis for risk assessment.

Over the past few decades, advances in genomic analysis techniques and bioinformatics have enabled the identification of many new human monogenic diseases. In 2015, the Japan Agency for Medical Research and Development launched a national project for undiagnosed diseases called the Initiative on Rare and Undiagnosed Diseases (IRUD). Through this project, we identified Takenouchi-Kosaki syndrome (OMIM#616737), which is caused by specific pathogenic variants in CDC42, a critical regulator of diverse cellular functions, and is clinically characterized by intellectual disability and macrothrombocytopenia. In addition to the identification of disease-causing genes and new human monogenic disorders, significant progress has also been made in the clinical implementation of genomic medicine. In 2019, we launched a national project called Precise and Rapid Genetic Diagnosis and Treatability for Infants (Priority-i) to provide rapid genetic diagnosis for sick newborns in neonatal intensive care units. It is our mission to apply the benefits of the latest advances in genomic medicine to the clinical care of newborns and children.

Objectives: Clinical and radiological criteria for predicting surgical approach or spontaneous resolution have been evaluated mainly in primary non-refluxing megaureters detected prenatally. We aimed to analyze these criteria in a retrospectively collected cohort of children with either prenatal or postnatal diagnosis of non-obstructive non-refluxing (NONR) megaureter.

Methods: Hospital files of the children with NONR megaureter were evaluated retrospectively for age at diagnosis, presenting complaint, follow-up period, accompanying urologic abnormalities, complications (renal scar and urinary tract infection), and final status.

Results: There were 27 NONR megaureters in 25 patients (male/female: 19/6; prenatal/postnatal: 18/7). Two prenatal cases had bilateral involvement. Spontaneous resolution rate in renal units was lower in postnatal cases than in prenatal cases (2 out of 7 vs. 15 out of 20, OR 7.5). Spontaneous resolution rate was also higher when ureteral diameter was <11 versus ≥11 mm (OR 10.9) and renal pelvis anteroposterior diameter ≤10 mm versus >10 mm (OR 19.2). Surgical intervention rate was higher in the presence of ureteral diameter ≥14 versus <14 mm (OR 22.0). Renal units that underwent surgical treatment showed higher rates of febrile urinary tract infections, renal scarring, and reduced renal function on ^99mTc-MAG3 scintigraphy compared to those without surgical intervention.

Conclusions: Initial management of asymptomatic non-refluxing megaureters should be observational monitoring. Majority of them resolve spontaneously if ureteral diameter is <11 mm with renal pelvis anteroposterior diameter ≤10 mm. However, children with ureteral diameter ≥14 mm are prone to develop febrile urinary tract infection, renal scar, and decreased renal function requiring surgical intervention.