Congenital nephrotic syndrome
Congenital Nephrotic Syndrome is a rare kidney disorder that is present at birth. It is characterized by a high level of protein in the urine (proteinuria), low levels of protein in the blood (hypoalbuminemia), and swelling in the body tissues (edema).
Causes[edit | edit source]
Congenital Nephrotic Syndrome is usually caused by genetic mutations. The most common cause is a mutation in the NPHS1 gene, which provides instructions for making a protein called nephrin. Nephrin is found in the kidneys and is essential for the normal function of the glomeruli, the tiny blood vessels in the kidneys that filter waste from the blood. Mutations in the NPHS1 gene disrupt the normal function of the glomeruli, leading to the symptoms of Congenital Nephrotic Syndrome.
Other genes that have been associated with Congenital Nephrotic Syndrome include the WT1 gene, the LAMB2 gene, and the PLCE1 gene. Mutations in these genes can also disrupt the normal function of the glomeruli.
Symptoms[edit | edit source]
The main symptoms of Congenital Nephrotic Syndrome are proteinuria, hypoalbuminemia, and edema. Other symptoms can include poor growth, frequent infections, and a higher risk of blood clots.
Diagnosis[edit | edit source]
Diagnosis of Congenital Nephrotic Syndrome is usually based on the symptoms, particularly the presence of proteinuria, hypoalbuminemia, and edema. Genetic testing can confirm the diagnosis and identify the specific gene mutation causing the disorder.
Treatment[edit | edit source]
Treatment for Congenital Nephrotic Syndrome is aimed at managing the symptoms and preventing complications. This can include medications to reduce proteinuria and edema, dietary changes to increase protein intake, and in some cases, kidney transplantation.
Prognosis[edit | edit source]
The prognosis for individuals with Congenital Nephrotic Syndrome varies depending on the specific gene mutation and the severity of the symptoms. With appropriate treatment, many individuals with this disorder can lead normal lives.
See also[edit | edit source]
NIH genetic and rare disease info[edit source]
Congenital nephrotic syndrome is a rare disease.
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Contributors: Prab R. Tumpati, MD
