Congenital nephrotic syndrome

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Congenital Nephrotic Syndrome

Congenital nephrotic syndrome (kənˈjenɪtəl ˈnɛfrɒtɪk ˈsɪndroʊm) 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 (edema).

Etymology

The term "congenital" is derived from the Latin word "congenitus," which means "born with." "Nephrotic" comes from the Greek word "nephros," meaning "kidney," and "syndrome" is from the Greek word "syndromē," meaning "concurrence."

Symptoms

The main symptoms of congenital nephrotic syndrome include:

  • Proteinuria: High levels of protein in the urine.
  • Hypoalbuminemia: Low levels of protein in the blood.
  • Edema: Swelling in the body, especially in the legs, ankles, and feet.
  • Hyperlipidemia: High levels of fats (lipids) in the blood.

Causes

Congenital nephrotic syndrome is usually caused by genetic mutations. The most common gene associated with this condition is the NPHS1 gene, which provides instructions for making a protein that is found in the kidneys.

Diagnosis

Diagnosis of congenital nephrotic syndrome is based on the presence of high levels of protein in the urine, low levels of protein in the blood, and swelling in the body. Additional tests may include a kidney biopsy, genetic testing, and blood tests.

Treatment

Treatment for congenital nephrotic syndrome may include medications to reduce proteinuria and swelling, dietary changes, and in severe cases, kidney transplantation.

See also

External links

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