How does LAMB2 contribute to kidney disease? Insights from a pediatric case.

Background: We present the case of an 11-year-old girl who has been followed for the past four years after the incidental discovery of asymptomatic microhematuria during school enrollment.

Case Presentation: Over the course of follow-up, glomerular-origin microhematuria persisted, and mild proteinuria developed and persisted for over six months. This prompted the need for a kidney biopsy.

A 15-year experience highlighting the spectrum of Alport kidney disease in the pediatric population and novel genetic variants in COL4A3-5.

Background: Alport kidney disease (AKD) presents one of the most prevalent genetic kidney disorders, characterized by a complex genetic background and diverse clinical manifestations. This study aimed to review the clinical and genetic features of pediatric patients with COL4A3-5 variants and identify novel genetic variants.

Methods: Data were collected retrospectively at a national level from pediatric patients up to 19 years old, who underwent genetic testing between 2008 and 2023.

The Role of Next-Generation Sequencing in the Management of Patients with Suspected Non-Ischemic Cardiomyopathy after Syncope or Termination of Sudden Arrhythmic Death.

Cardiac arrhythmias and sudden death are frequent in patients with non-ischemic cardiomyopathy and can precede heart failure or additional symptoms where malignant cardiac arrhythmias are mostly the consequence of advanced cardiomyopathy and heart failure. Finding these subgroups and making an early diagnosis could be lifesaving. In our retrospective study, we are presenting arrhythmic types of frequent cardiomyopathies where an arrhythmogenic substrate is less well defined, as in ischemic or structural heart disease.

Identification of potentially pathogenic variants for autism spectrum disorders using gene-burden analysis.

Gene- burden analyses have lately become a very successful way for the identification of genes carrying risk variants underlying the analysed disease. This approach is also suitable for complex disorders like autism spectrum disorder (ASD). The gene-burden analysis using Testing Rare Variants with Public Data (TRAPD) software was conducted on whole exome sequencing data of Slovenian patients with ASD to determine potentially novel disease risk variants in known ASD-associated genes as well as in others.