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Nephrotic Syndrome: Type2
What is Nephrotic Syndrome: Type2?
Nephrotic syndrome type 2 (NPHS2) is an inherited disorder characterized by progressive kidney disease. Symptoms typically start to appear in infancy or childhood, though later onset has been reported. Children with NPHS2 have high levels of protein in their urine, low protein levels in their blood, high fat levels in their blood and excessive fluid accumulation throughout the body. Progression to end-stage renal disease is usually rapid, occurring within the first or second decade. This syndrome is resistant to steroid therapy. Intellect is not affected by NPHS2. NPHS2 can be treated with kidney transplant, which is typically curative; however, recurrence of kidney disease following transplant has been reported. NPSH2 is caused by pathogenic variants in the NPHS2 gene.
How is Nephrotic Syndrome: Type2 inherited?
NPHS2 is inherited in an autosomal recessive manner. This type of inheritance requires the presence of two copies of a pathogenic variant in the gene for a person to have the genetic disease. Both parents must be carriers of a pathogenic variant in the gene in order to be at risk to have an affected child. The child must inherit a pathogenic variant from each carrier parent in order to be affected. There is a 1 in 4 chance that a baby will inherit two mutated copies of the gene and be affected when both parents are carriers.
What does it mean to be a carrier?
There are generally no signs or symptoms associated with being a carrier for NPHS2. However, the risk to have a child affected with NPHS2 is increased. Testing of reproductive partners is recommended for carriers of NPSH2.
How common is Nephrotic Syndrome: Type2?
NPHS2 is estimated to affect about 1-3 in 1,000,000 worldwide.
What is analysed?
Full gene sequencing
|Ethnicity||Detection Rate||Carrier Frequency|
|General Population||> 95%||1 in 500|