Congenital nephrotic syndrome
| Congenital nephrotic syndrome | |
|---|---|
| Classification and external resources | |
| Specialty | urology |
| ICD-10 | N04 |
| ICD-9-CM | 581.9 |
| OMIM | 600995 256300 |
| DiseasesDB | 29412 29909 |
| MedlinePlus | 001576 |
Congenital nephrotic syndrome is an inherited disorder characterized by protein in the urine and swelling of the body.
Congenital nephrotic syndrome is a very rare form of nephrotic syndrome. It occurs predominantly in families of Finnish origin and manifests shortly after birth. It is an inherited disorder. The condition is caused by a defect in the protein nephrin, which is found in the kidney.
Proteins and fats are excreted in the urine, and there is an abnormally high fat level in the blood. Swelling occurs due to kidney failure, combined with the loss of blood protein. This is because proteins in the blood normally keep fluids in the blood stream, and when protein level is low, the fluid can leak into the body tissues.
Some of the proteins lost in the urine are immune system antibodies that fight infections. The disorder commonly results in infection, malnutrition, and kidney failure.
An examination reveals massive fluid retention and generalized swelling. Abnormal sounds are heard when listening to the heart and lungs with a stethoscope. Blood pressure may be high. The patient may have signs of malnutrition.
A urinalysis reveals large amounts of protein and the presence of fat in the urine. Total protein in the blood may be low. The disorder can be screened during pregnancy by finding elevated levels of alpha-fetoprotein on a routine sampling of amniotic fluid. Genetic tests should be used to confirm the diagnosis, if the screening test is positive.
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