Glomerulosclerosis is a lesion that requires histopathologic diagnosis. It is caused by podocyte defects or injury. Its etiology is heterogeneous and can be either inherited or acquired. Among the inherited forms, genetic focal segmental glomerulosclerosis (FSGS) stands out, apart from other glomerulopathies that lead to glomerular fibrosis.
FSGS is the most common primary glomerulosclerosis, found in more than 75% of children and 50% of adults with nephrotic syndrome. The presence of genetic alterations in genes that form part of podocytes, the cytoskeleton, and structural proteins of the glomerulus have been widely described. There is no specific clinical and histopathological distinction between genetic FSGS and other types. However, certain data can be suggestive of this etiology: positive family history, age of onset (approximately 30% of FSGS first manifests in patients before age 25), extraordinarily severe presentation, and corticoid resistance. Despite early onset being characteristic of genetic FSGS, it should not be ruled out in cases with a later onset.
