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Congenital nephrotic syndrome


Alternative names

Nephrotic syndrome - congenital

Definition

Congenital nephrotic syndrome is an inherited disorder characterized by protein in the urine and swelling of the body (see also Nephrotic syndrome ).

Causes, incidence, and risk factors

Congenital nephrotic syndrome is a very rare form of nephrotic syndrome . It occurs primarily in families of Finnish origin and develops shortly after birth. It is an inherited disorder. The condition is caused by a protein called nephrin which is found in the kidney and is abnormal in children with the disorder.

Proteins and fats are excreted in the urine, and there is an abnormally high fat level in the blood. Swelling occurs from the effects of 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. It can often lead to death by 5 years of age.

Symptoms

  • low birth weight
  • large placenta
  • swelling , (total body)
  • decreased urine output
  • foamy appearance of urine
  • poor appetite
  • cough

Signs and tests

An examination reveals massive fluid retention with generalized swelling . Abnormal sounds are heard when listening to the heart and lungs with a stethoscope. Blood pressure may be high.

Signs of malnutrition may be present. Frequent infections may occur over the course of the disease. 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 detected during pregnancy by finding elevated levels of alpha-fetoprotein on a routine sampling of amniotic fluid and by other genetic tests.

Treatment

Early and aggressive treatment is required to control the disorder. Diuretic medications help rid the body of excess fluid. ACE inhibitor medications (like Captopril and others) are used to slow the spilling of protein in the urine. Antibiotics may be needed to control infections.

Dietary modifications may include the restriction of sodium and use of dietary supplements as appropriate for the nature and extent of malnutrition. Fluids may be restricted to help control swelling .

Removal of the kidneys, dialysis, and kidney transplant may be recommended.

Expectations (prognosis)

Many cases are fatal within the first year. Congenital nephrotic syndrome may be successfully controlled in some cases with early and aggressive treatment, including early kidney transplantation.

Complications

  • frequent, severe infections
  • malnutrition and related diseases
  • acute kidney failure
  • chronic kidney failure
  • end-stage renal disease

Calling your health care provider

Call your health care provider if symptoms suggestive of congenital nephrotic syndrome develop.

Update Date: 7/22/2002

John J. Friedewald, M.D., Johns Hopkins University School of Medicine, Baltimore, MD. Review provided by VeriMed Healthcare Network.

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Last updated: Tue, 06 Jan 2009 00:20:03 GMT
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