What is NPHS2?
NPHS2 is a gene that encodes the protein podocin, which is essential for the function of the glomerular filtration barrier in the kidneys. Mutations in the NPHS2 gene are associated with a condition known as
steroid-resistant nephrotic syndrome (SRNS). This is a form of chronic kidney disease that primarily affects children and can lead to end-stage renal disease (ESRD).
How does NPHS2 mutation affect children?
Children with mutations in the NPHS2 gene often present with symptoms of nephrotic syndrome, including proteinuria, hypoalbuminemia, and edema. Unlike other forms of nephrotic syndrome that may respond to steroid treatment, those associated with NPHS2 mutations do not improve with steroids, thus the term
steroid-resistant nephrotic syndrome.
Urinalysis to detect proteinuria
Blood tests to check for hypoalbuminemia and hyperlipidemia
Renal biopsy in some cases to assess kidney structure
Genetic testing to identify mutations in the NPHS2 gene
What are the treatment options?
Treatment of NPHS2-related nephrotic syndrome focuses on managing symptoms and slowing the progression of kidney disease. Options may include:
Angiotensin-converting enzyme inhibitors (ACE inhibitors) or angiotensin receptor blockers (ARBs) to reduce proteinuria
Diuretics to manage edema
Dietary modifications, including low-sodium and low-protein diets
Potential use of immunosuppressive agents, though these are often less effective in NPHS2-related cases
Dialysis or
kidney transplantation in advanced stages
What is the prognosis for children with NPHS2 mutations?
The prognosis for children with NPHS2 mutations varies. Many children will progress to ESRD, often within the first two decades of life. Early diagnosis and appropriate management can help delay the progression of kidney disease and improve the quality of life.
Is genetic counseling recommended?
Yes, genetic counseling is highly recommended for families affected by NPHS2 mutations. It can provide valuable information regarding the inheritance pattern, implications for family members, and guidance on future family planning. NPHS2-related nephrotic syndrome is typically inherited in an
autosomal recessive manner.
Are there any ongoing research and future directions?
Research is ongoing to better understand the molecular mechanisms of NPHS2 mutations and to develop more effective treatments. Future directions may include gene therapy, novel pharmacological interventions, and improved diagnostic techniques to identify affected individuals earlier.
