2020•Kidney International ReportsOpen access
Type IV Collagen Mutations in Familial IgA Nephropathy
Yifu Li, Emily Groopman, Vivette Denise D’Agati, Sindhuri Prakash, Junying Zhang, Małgorzata Mizerska-Wasiak, Yaşar Çalışkan, David A. Fasel, Hussein H. Karnib, Luisa Bono, Sadek Al Omran, Essam Al Sabban, Krzysztof Kiryluk, Gianluca Caridi, Gian Marco Ghiggeri, Simone Sanna‐Cherchi, Francesco Scolari, Ali G. Gharavi
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Abstract
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.
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