SNP Shot: Genomic Insights

Congenital nephrotic syndrome is a kidney disorder present from infancy that usually results in end-stage renal disease (ESRD), or irreversible kidney failure, by early childhood. The condition's symptoms typically manifest in affected children between birth and 3 months of age.

The characteristics of congenital nephrotic syndrome arise from the kidneys' inability to properly filter waste products from the blood and eliminate them through urine. The signs and symptoms include high levels of protein in the urine (proteinuria), elevated cholesterol levels in the blood (hypercholesterolemia), fluid accumulation in the abdomen (ascites), and swelling (edema). Individuals affected may also experience blood in the urine (hematuria), potentially leading to anemia (a shortage of red blood cells), abnormal blood clots, or decreased levels of certain white blood cells. A low white blood cell count can weaken the immune system, making those with congenital nephrotic syndrome prone to frequent infections.

End-stage renal disease generally develops in children with congenital nephrotic syndrome between the ages of 2 and 8. However, with treatment, kidney failure may be delayed until adolescence or early adulthood in some cases.

Inheritance:

This condition follows an autosomal recessive inheritance pattern. This means that both copies of the responsible gene within each cell must carry mutations for the condition to develop. Individuals with an autosomal recessive condition inherit one mutated copy of the gene from each parent, who are typically carriers and do not exhibit any signs or symptoms of the condition themselves.