Pediatric Reports

Τargeted genetic sequencing in a 6-year-old with steroid-resistant nephrotic syndrome and biopsy findings of focal segmental glomerulosclerosis (FSGS) revealed a novel COL4A3 pathogenic variant (p.Arg341His). Combined with electron microscopy findings of glomerular basement membrane abnormality, this led to a diagnosis of type IV collagen-related nephropathy. This case underscores the benefit of early genetic testing in presumed FSGS for prognosis and avoiding unnecessary immunosuppression in pediatric nephrotic syndrome.

Background and Clinical Significance: Urticaria in children is generally self-limiting, and infections are a significant trigger. While anti-IgE therapy (Omalizumab) is approved for chronic spontaneous urticaria (CSU) in adolescents and adults, its role in treating acute urticaria, particularly in children, is not well defined. Case Presentation: We present two pediatric cases of acute urticaria associated with Mycoplasma pneumoniae infection. Both cases were refractory to antihistamines and corticosteroids but showed rapid response with anti-IgE treatment. Conclusions: This is the first case report in the literature of pediatric acute urticaria treated with Omalizumab. These cases suggest a potential role for IgE-mediated pathways in acute urticaria related to Mycoplasma infection and raise the question of broader applications for Omalizumab beyond CSU.

Objectives: Global Developmental Delay (GDD) and Intellectual Disability (ID) are prevalent neurodevelopmental disorders with significant disability burden, and genetic factors play a crucial role in their etiology. This study aimed to develop and validate a clinical prediction model for identifying children with GDD/ID at high genetic risk, facilitating targeted genetic testing. Methods: We retrospectively analyzed clinical data of children with GDD/ID treated at Nanjing Children’s Hospital from January 2019 to December 2023. Children with comorbid Autism Spectrum Disorder (ASD) were excluded. The dataset was randomly split into training and validation sets (7:3 ratio). Lasso regression was used to identify potential predictive factors for positive genetic test results, followed by multivariable logistic regression to select independent predictors, which were incorporated into a nomogram. Model performance was evaluated by discrimination, calibration, and clinical utility using decision curve analysis in both sets. Results: Four independent predictors—craniofacial abnormalities, visceral abnormalities, physical growth abnormalities, and family history of ID—were identified. The resulting nomogram demonstrated an area under the curve (AUC) of 0.734., with good calibration and positive net benefit on decision curve analysis. Validation confirmed the reliability of the model. Conclusions: We developed a clinically applicable prediction model to identify high genetic risk among children with GDD/ID without ASD. This model may serve as a preliminary screening tool to assist clinicians in prioritizing genetic testing and improving diagnostic efficiency in clinical practice.