COL4A3/COL4A4 mutations producing focal segmental glomerulosclerosis and renal failure in thin basement membrane nephropathy

K Voskarides, L Damianou, V Neocleous… - Journal of the …, 2007 - journals.lww.com
Mutations in the COL4A3/COL4A4 genes of type IV collagen have been found in∼ 40% of
cases of thin basement membrane nephropathy, which is characterized by microscopic
hematuria and is classically thought to cause proteinuria and chronic renal failure rarely.
Here we report our observations of 116 subjects from 13 Cypriot families clinically affected
with thin basement membrane nephropathy. These families first came to our attention
because they segregated microscopic hematuria, mild proteinuria, and variable degrees of …