Congenital anomalies of the kidney and urinary tract (CAKUT) comprise a large variety of
malformations that arise from defective kidney or urinary tract development and frequently …

Background Whole-exome sequencing (WES) increases the diagnostic rate of genetic
kidney disorders, but accessibility, interpretation of results, and costs limit use in daily …

Focal segmental glomerulosclerosis (FSGS) is a complex disease which describes different
kinds of kidney defects, not exclusively linked with podocyte defects. Since nephrin mutation …

Purpose Congenital anomalies of the kidneys and urinary tract (CAKUT) constitute the
leading cause of chronic kidney disease in children. In total, 174 monogenic causes of …

Bartter (BS) and Gitelman (GS) syndrome are autosomal recessive inherited tubulopathies,
whose clinical diagnosis can be challenging, due to rarity and phenotypic overlap. Genotype …

Thrombotic microangiopathy (TMA) encompasses various genetically-driven diseases. The
emergence of ultrafast genomic sequencing has recently opened up new avenues of …

Chronic kidney disease (CKD) is a global public healthcare concern in the pediatric
population, where glomerulopathies represent the second most common cause. Although …

Steroid-resistant nephrotic syndrome (SRNS) is one of the major causes of end-stage kidney
disease (ESKD) in children and young adults. For approximately 30% of children with SRNS …

Podocytopathies are glomerular disorders in which podocyte injury drives proteinuria and
progressive kidney disease. They encompass a broad spectrum of aetiologies, resulting in …

Objective Clinical diagnosis of hereditary kidney disease can be difficult because of its rarity
and severe phenotypic variability. Identifying mutated causative genes can provide …