Genetic glomerulonephritis [44 genes]

This group of diseases includes several autoimmune pathologies, both primary and secondary, such as IgA nephropathy (the most prevalent type of glomerulonephritis), membranoproliferative glomerulonephritis, and nephritic lupus, among others. Even though many affected patients have only mild symptoms, a high percentage of cases develop kidney failure, with persistent proteinuria and microhematuria, artery hypertension, and tubulointerstitial fibrosis, caused by the aggregation of immune complexes and the development of antibodies. Defects in the genes of the classical and alternative complement pathways have been associated with the development of these diseases, as well as genetic alterations in genes that are part of apoptotic pathways, autoimmunity regulation, inflammatory cytokine production, and vesicular trafficking.

• Incidence: 1-5/100,000 (USA)
• 4-15% of glomerulopathies

The identification of genetic variants causing genetic-based glomerulonephritis allows for a precise molecular diagnosis that provides the necessary information to perform genetic counseling, direct patient management, and offers predictive value to carrier patients.

This panel is indicated when there is suspicion of genetically based glomerulonephritis that may include the following clinical characteristics:

• Membranoproliferative glomerulonephritis
• Dense deposit disease
• Kidney fibrosis
• Nephrotic syndrome
• Autoantibodies
• Autoinflammation