This article discusses about a pathological condition of kidneys, which is basically congenital in nature and is present since birth. This condition is called as Congenital Nephrotic Syndrome in which there is presence of proteins in urine and extreme body swelling since birth. In this article, we will discuss about the causes, symptoms, and treatments for Congenital Nephrotic Syndrome.
How Is Congenital Nephrotic Syndrome Defined?
- Rare Disease- Congenital Nephrotic Syndrome is an extremely rare type of kidney disease characterized by presence of protein in urine and severe swelling of body.
- Finland- Congenital Nephrotic Syndrome is most often seen in people who are Finnish in origin (Finland).
- Infants- The disease is observed very shortly after birth.
- Abnormal Kidney Function- Congenital Nephrotic Syndrome causes abnormal excretion of proteins and fats in urine.
- Peripheral Edema- The swelling in the body occurs because of following reasons-
- Water leaks from capillaries containing serum with low osmotic pressure into subcutaneous tissue.
- The excess water in subcutaneous tissue causes edema.
- Serum Protein- The proteins in the blood are responsible for keeping fluids in the blood and when there is depletion in the level of protein then the fluid can potentially leak in body tissues.
- Excretions of Antibodies- In Congenital Nephrotic Syndrome, some of the proteins that are excreted are normally immune system antibodies, which help fight infections.
- Outcome of the Disease- Congenital Nephrotic Syndrome often leads to death by the age of 5.
- Low serum protein causing low blood osmotic pressure.
Causes of Congenital Nephrotic Syndrome
- Genetic Mutation-
- Genetic abnormalities caused by genetic mutation has been considered as one of the cause of nephrotic syndrome.1
- Congenital Disease-
- Congenital Nephrotic Syndrome is an inherited medical condition.2
- This condition is as a result of a defect in the protein Nephrin found in the kidney.
- Autosomal recessive diseases includes gene from both parents.
- Finnish Type3-
- Congenital nephrotic syndrome is common among people in Finland.
- Intrauterine Infection During Pregnancy-
- The disease may have been caused following in-utero infection
- Cytomegalovirus (CMV)
Systemic Effects of Congenital Nephrotic Syndrome
- Protein Loss In Urine-
- Blood or serum protein concentration is low
- Low protein in serum causes low osmotic pressure within serum.
- Water Filter-
- Capillary leak of water causes edema
- Renal Failure-
- Child by age 4 years shows signs of End Stage Renal Disease. Renal failure results in following abnormal findings-
- Fluid Retention
- Peripheral edema
- Pleural effusion
- Hepatomegaly- Enlarged liver
- Ascites- Fluid in abdominal cavity
- Low Blood Protein
- Low serum albumen and globulin
- Low vitamin D binding protein
- Low thyroid binding proteins
- Low Immunoglobulin
- Excessive protein loss in urine
- Low osmotic pressure in blood causes water loss into peripheral tissue.
- Fluid retention
Symptoms Of Congenital Nephrotic Syndrome
- General Examination-
- Edema- Swollen finger and feet
- Low birth weight
- Growth- height: short
- Loss of appetite
- Cough with mucus secretion causes fluid secretions in lungs
- Shortness of breath caused by fluid in pleural space outside lung
- Hepatomegaly- Enlarged liver
- Ascites (fluid in abdominal cavity)
- Urine Output
- Foamy urine
- Low urine output
Diagnosis of Congenital Nephrotic Syndrome
- Genetic history is also very helpful in order to be sure if Congenital Nephrotic Syndrome is present in the family.
Maternal (Mother) Test During Pregnancy-
- Ultrasound Study Of Placenta- Large sized placenta
- Amniotic Fluid Test- Higher level of alpha-fetoproteins.3
- Blood Creatinine- High
- Blood Urea Nitrogen (BUN)- High
- Blood Cholesterol- High
- Blood Protein Levels-
- Hypoproteinemia (low protein)
- Hypoalbuminemia (low albumen)
- Protein Concentration- High
Treatment for Congenital Nephrotic Syndrome
Infection- Often caused by immunodeficiency (low immune protein)
Reduced High Protein Loss-
- Ace Inhibitors
- Non-Steroidal Anti-Inflammatory Drugs (NSAIDs)
- Fluid Restrictions
- Nephrotic syndrome causing excessive losses of protein, which may force the child to be treated with dialysis to prevent fatal outcome.
- Child may survive longer if kidney transplant is successfully performed at neonatal age.
Complications Caused By Congenital Nephrotic Syndrome
- Acute Renal Failure
- Blood Clotting
- End-stage Renal Disease
- Frequent Infections
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Ismaili K1, Pawtowski A, Boyer O, Wissing KM, Janssen F, Hall M.
Pediatr Nephrol. 2009 Feb;24(2):287-94.
2. Congenital nephrotic syndrome.
Hamed RM., Saudi J Kidney Dis Transpl. 2003 Jul-Sep;14(3):328-35.
3. Amniotic alpha-fetoprotein in the prenatal diagnosis of congenital nephrotic syndrome of the Finnish type.
Morris J1, Ellwood D, Kennedy D, Knight J.
Prenat Diagn. 1995 May;15(5):482-5.
4. Congenital nephrotic syndrome masquerading as respiratory illness.
Aslam M1, DeGrazia M, Hossain T.
Am J Perinatol. 2008 Oct;25(9):601-4.
5. Pediatric renal transplantation with considerations for successful outcomes.
Salvatierra O Jr1, Millan M, Concepcion W.
Semin Pediatr Surg. 2006 Aug;15(3):208-17.