Type IV Collagen Mutations in Familial IgA Nephropathy

IgA nephropathy (IgAN) is a leading cause of chronic glomerulonephritis, and exhibits highly heterogeneous clinical and pathological features1,2. Although IgAN classically presents as a young adult with macroscopic hematuria accompanying an upper respiratory infection or gastrointestinal illness, patients can present with isolated microscopic hematuria, mild proteinuria, and/or hypertension.1,2 Diagnosis is based on renal biopsy, with characteristic features including mesangial hypercellularity and IgA-dominant deposits in the glomerular mesangium; however, diverse findings can be seen on light and electron microscopy.