Hereditary kidney diseases

Hereditary nephropathies are a very large and inhomogeneous group of different diseases. They can be divided into structural and functional changes.

Structural hereditary kidney diseases include

• Congenital anomalies of kidney and urinary tract (CAKUT) and
• Cystic kidney disease (i.e. ADPKD, ARPKD)

Functional disorders include

• Glomerular kidney disease
• Hereditary tubulopathies and salt wasting disorders (e.g. Bartter/Gitelman syndrome).
• Renal involvement in metabolic diseases
• Renal involvement in inflammatory diseases
• Syndromes with multi-organ involvement

The complexity of hereditary kidney diseases is reflected in our comprehensive panel selection, allowing an indication-specific panel selection according to the patient's individual symptoms. We also offer special expertise in nephrogenetics. With the help of our developed sequencing method, we guarantee complete coverage of the highly homologous PKD1 gene with reliable differentiation from the pseudogene.