Knowledge of the primary cause of a disease is essential for understanding its mechanisms and for adequate classification, prognosis, and treatment. In the past years, multiple kidney diseases have been revealed as single-gene defects.
Several already described syndromes with a collection of symptoms due to kidney damage.
In particular, nephrotic syndrome (NS) is defined as heavy proteinuria severe enough to cause hypoalbuminemia, edema, and hypercholesterolemia.
- The second most frequent cause of end-stage kidney disease (ESKD) in children.
- 20% of patients become resistant to steroids (SRNS) and only ~20-30% of pediatric patients are steroid-sensitive.
- SRNS leads to end stage renal disease (ESRD), the last stage of chronic kidney disease (CKD) in more than 50% of patients.
- 30% of cases (or more) of SRNS are caused by mutations of genes.
- Genetic forms of NS affects 1 to 3 per 100,000 children worldwide.
The features of nephrotic syndrome are caused by failure of the kidneys to filter waste products from the blood and remove them in urine. Signs and symptoms of this condition are excessive protein in the urine (proteinuria), increased cholesterol in the blood (hypercholesterolemia), an abnormal buildup of fluid in the abdominal cavity (ascites), and swelling (edema). Affected individuals may also have blood in the urine (hematuria), which can lead to a reduced number of red blood cells (anemia) in the body, abnormal blood clotting, or reduced amounts of certain white blood cells. Low white blood cell counts can lead to a weakened immune system and frequent infections in people with congenital nephrotic syndrome.
Children with genetic forms of nephrotic syndrome typically develop end-stage renal disease between ages 2 and 8, although with treatment, some may not have kidney failure until adolescence or early adulthood.
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition
Unfortunately, there is no specific treatment available.