SNP Shot: Genomic Insights

Fibronectin glomerulopathy is a kidney disorder that typically manifests between early adulthood and middle age, though it can appear at any point in life. This condition ultimately progresses to end-stage renal disease (ESRD), a state of irreversible kidney failure.

Common signs of fibronectin glomerulopathy include blood and elevated levels of protein in the urine (hematuria and proteinuria, respectively), as well as elevated blood pressure (hypertension). Some individuals with this condition also experience renal tubular acidosis, a condition where the kidneys fail to adequately eliminate acid from the body, leading to overly acidic blood.

In patients with fibronectin glomerulopathy, the kidneys exhibit substantial accumulations of the fibronectin-1 protein within the glomeruli. Glomeruli are networks of minute blood vessels within the kidneys responsible for filtering waste from the blood, which is then excreted in urine. The presence of fibronectin-1 deposits compromises the glomeruli's ability to perform this crucial filtering function.

Typically, 15 to 20 years after symptoms emerge, individuals with fibronectin glomerulopathy will develop ESRD. Treatment options often include kidney transplantation; however, in some instances, the fibronectin glomerulopathy can recur even after the transplant.

Inheritance:

Fibronectin glomerulopathy caused by mutations in the FN1 gene follows an autosomal dominant inheritance pattern. This means that inheriting just one copy of the mutated gene in each cell is enough to cause the disease. In some instances, the mutation is inherited from a parent who also has the condition. However, new mutations in the FN1 gene can also occur, leading to the disorder in individuals with no family history. Notably, some individuals carrying the altered FN1 gene may never develop fibronectin glomerulopathy, a phenomenon known as reduced penetrance.