Merck Manual

Please confirm that you are a health care professional

honeypot link

Congenital Nephrotic Syndromes

By

Frank O'Brien

, MD, Washington University in St. Louis

Last full review/revision Jul 2021| Content last modified Jul 2021
Click here for Patient Education

Congenital and infantile nephrotic syndromes are those that manifest during the first year of life. They include diffuse mesangial sclerosis and Finnish-type nephrotic syndrome.

Congenital and infantile nephrotic syndromes are generally rare inherited defects in glomerular filtration. Symptoms are centered around proteinuria, edema, and hypoproteinemia. These diseases are best diagnosed by their gene mutations, because their presentations and histopathologies are not sufficiently specific. Early, aggressive treatment may include angiotensin-converting enzyme (ACE) inhibitors, angiotensin receptor II blockers, and nonsteroidal anti-inflammatory drugs (NSAIDs, eg, indomethacin) for proteinuria; diuretics, IV albumin, and fluid restriction for edema; and antibiotics, anticoagulation, and hypernutrition. Nephrectomy, followed by dialysis Hemodialysis In hemodialysis, a patient’s blood is pumped into a dialyzer containing 2 fluid compartments configured as bundles of hollow fiber capillary tubes or as parallel, sandwiched sheets of semipermeable... read more or kidney transplantation Kidney Transplantation Kidney transplantation is the most common type of solid organ transplantation. (See also Overview of Transplantation.) The primary indication for kidney transplantation is End-stage renal failure... read more , may be necessary to stop the proteinuria.

Diffuse mesangial sclerosis

This nephrotic syndrome is rare. Inheritance is variable. It is caused by a mutation in the PLCE1 gene, which codes for phospholipase C epsilon. Progression to end-stage renal failure occurs by age 2 or 3 years.

Patients with severe proteinuria may require bilateral nephrectomy because of severe hypoalbuminemia; dialysis Hemodialysis In hemodialysis, a patient’s blood is pumped into a dialyzer containing 2 fluid compartments configured as bundles of hollow fiber capillary tubes or as parallel, sandwiched sheets of semipermeable... read more should be initiated early to ameliorate nutritional deficits and mitigate failure to thrive. The disorder usually recurs in a renal graft.

Finnish-type nephrotic syndrome

This syndrome is an autosomal recessive disorder that affects 1/8200 Finnish neonates and is caused by a mutation in the NPHS1 gene, which codes for a podocytic slit-diaphragm protein (nephrin).

Other congenital nephrotic syndromes

Several other rare congenital nephrotic syndromes are now genetically characterized. These disorders include

Drugs Mentioned In This Article

Drug Name Select Trade
INDOCIN
Click here for Patient Education
NOTE: This is the Professional Version. CONSUMERS: Click here for the Consumer Version
Professionals also read
Test your knowledge
Metabolic Nephropathies
Several metabolic disturbances can cause tubulointerstitial nephritis. Acute urate nephropathy is not a true form of acute tubulointerstitial nephritis but rather an intraluminal obstructive uropathy. The most common cause of this type of nephropathy is which of the following?
Download the Manuals App iOS ANDROID
Download the Manuals App iOS ANDROID
Download the Manuals App iOS ANDROID
 

Also of Interest

 
TOP