Geneticists and Nephrologists at “Mama and I” Introduce State-of-the-Art Diagnostic Approaches for Congenital Kidney Anomalies

Hereditary kidney diseases affect between 60 and 80 per 100,000 people in Europe, and their prevalence has increased significantly in recent years. They are among the leading causes of chronic kidney damage in childhood, with a genetic basis identified in 30–50% of cases. Nearly all children who reach end-stage renal disease and require dialysis or transplantation suffer from such inherited conditions, which often affect other organs and systems as well, necessitating a complex approach and substantial treatment resources.

At the Mother and Child Health Clinic “Mama and I”, the only one of its kind in Bulgaria, a multidisciplinary team of nephrologists and geneticists applies internationally established methods for the diagnosis and treatment of hereditary nephropathies.

Specialists from the Medical Genetics Laboratory, together with pediatric nephrologist Assoc. Prof. Dr. Maria Gaydarova, use modern diagnostic algorithms on a daily basis to identify congenital anomalies of the kidneys and urinary tract. Thanks to this approach, the team successfully identified the genetic cause of polycystic kidney disease in a child treated at Mama and I, detecting pathogenic variants in PKD1 and PKHD1. Another case revealed a family with a COL4A3 mutation associated with Alport syndrome, a multisystem hereditary disorder with characteristic renal involvement.

“Clinical geneticists face daily challenges in interpreting genetic findings, and an accurate diagnosis is crucial for clinical and reproductive management—both for the patient and the entire family,” emphasizes Dr. Petya Angelova from the Medical Genetics Laboratory. “The highest success rates are achieved through early detection and prevention of severe complications. We cannot allow patients to reach the most advanced stages, when treatment becomes significantly more difficult and less effective.”

Thanks to close collaboration between pediatric nephrologists, pediatricians, neonatologists, and clinical geneticists—often in partnership with leading fetal morphologists and pediatric urologists in the country—the youngest patients at Mama and I receive modern, accessible, and comprehensive care, including genetic diagnostics at a European level.

The team’s clinical cases and results were presented at the National Nephrology Conference, where they generated significant interest and high recognition. The academic committee honored Assoc. Prof. Maria Gaydarova, Dr. Todor Vasilev, Dr. Nataliya Todorov, and Dr. Petya Angelova for their joint scientific and practical work.

This latest success further establishes Mama and I as a leading center in pediatric healthcare in Bulgaria—a testament to the high professionalism and dedication of the Pediatric Clinic team, led by Dr. Velimir Simov.