Health Encyclopedia

Congenital nephrotic syndrome

Definition

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

Alternative Names

Nephrotic syndrome - congenital

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 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 for 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.

Frequent infections may occur over the course of the disease.

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) and non-steroidal anti-inflammatory drugs (like indomethacin) 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
Blood clots
Acute kidney failure
Chronic kidney failure
End-stage kidney disease

Calling your health care provider

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

Review Date:7/25/2006
Reviewed By:David M. Charytan, M.D., M.Sc., Department of Medicine, Division of Nephrology, Brigham and Women's Hospital, Boston, MA. Review provided by VeriMed Healthcare Network.

ADAM Quality A.D.A.M., Inc. is accredited by URAC, also known as the American Accreditation HealthCare Commission (www.urac.org). URAC's accreditation program is the first of its kind, requiring compliance with 53 standards of quality and accountability, verified by independent audit. A.D.A.M. is among the first to achieve this important distinction for online health information and services. Learn more about A.D.A.M.'s editorial process. A.D.A.M. is also a founding member of Hi-Ethics (www.hiethics.com) and subscribes to the principles of the Health on the Net Foundation (www.hon.ch).

The Agency for Health Care Administration (Agency) and this website do not claim the information on, or referred to by, this site is error free. This site may include links to websites of other government agencies or private groups. Our Agency and this website do not control such sites and are not responsible for their content. Reference to or links to any other group, product, service, or information does not mean our Agency or this website approves of that group, product, service, or information.

Additionally, while health information provided through this website may be a valuable resource for the public, it is not designed to offer medical advice. Talk with your doctor about medical care questions you may have.