BACK TOTOP Browse A-ZSearchBrowse A-ZABCDEFGHIJKLMNOPQRSTUVWXYZ0-9 E-mail FormEmail ResultsName:Email address:Recipients Name:Recipients address:Message: Print-FriendlyBookmarksbookmarks-menuCongenital nephrotic syndromeNephrotic syndrome - congenitalCongenital nephrotic syndrome is a disorder that is passed down through families in which a baby develops protein in the urine and swelling of the body. Causes Congenital nephrotic syndrome is an autosomal recessive genetic disorder. This means that each parent must pass on a copy of the defective gene in order for the child to have the disease.Autosomal recessive geneticAutosomal recessive is one of several ways that a trait, disorder, or disease can be passed down through families. An autosomal recessive disorder me...Read Article Now Book Mark Article Although congenital means present from birth, with congenital nephrotic syndrome, symptoms of the disease occur in the first 3 months of life.Congenital nephrotic syndrome is a very rare form of nephrotic syndrome.Nephrotic syndrome is defined by a set of abnormal findings that include:Protein in the urine Low blood protein levels in the blood High cholesterol levels High triglyceride levels SwellingChildren with this disorder have an abnormal form of a protein called nephrin. The kidney's filters (glomeruli) need this protein to function normally. Symptoms Symptoms of nephrotic syndrome include:Cough CoughCoughing is an important way to keep your throat and airways clear. But too much coughing may mean you have a disease or disorder. Some coughs are d...Read Article Now Book Mark Article Decreased urine output Decreased urine outputDecreased urine output means that you produce less urine than normal. Most adults make at least 500 milliliters of urine in 24 hours (a little over ...Read Article Now Book Mark Article Foamy appearance of urine Low birth weight Low birth weightSmall for gestational age means that a fetus or an infant is smaller or less developed than normal for the baby's sex and gestational age. Gestation...Read Article Now Book Mark Article Poor appetite Poor appetiteA decreased appetite is when your desire to eat is reduced. The medical term for a loss of appetite is anorexia.Read Article Now Book Mark Article Swelling (total body)SwellingSwelling is the enlargement of organs, skin, or other body parts. It is caused by a buildup of fluid in the tissues. The extra fluid can lead to a ...Read Article Now Book Mark Article Exams and Tests An ultrasound done on the pregnant mother may show a larger-than-normal placenta. The placenta is the organ that develops during pregnancy to feed the growing baby.Pregnant mothers may have a screening test done during pregnancy to check for this condition. The test looks for higher-than-normal levels of alpha-fetoprotein in a sample of amniotic fluid. Genetic tests are then used to confirm the diagnosis if the screening test is positive.After birth, the infant will show signs of severe fluid retention and swelling. The health care provider will hear abnormal sounds when listening to the baby's heart and lungs with a stethoscope. Blood pressure may be high. There may be signs of malnutrition.A urinalysis reveals fat and large amounts of protein in the urine. Total protein in the blood may be low.UrinalysisUrinalysis is the physical, chemical, and microscopic examination of urine. It involves a number of tests to detect and measure various compounds th...Read Article Now Book Mark Article Total proteinThe total protein test measures the total amount of two classes of proteins found in the fluid portion of your blood. These are albumin and globulin...Read Article Now Book Mark Article Treatment Early and aggressive treatment is needed to control this disorder.Treatment may involve:Antibiotics to control infections Blood pressure medicines called angiotensin-converting enzyme (ACE) inhibitors and angiotensin receptor blockers (ARBs) to reduce the amount of protein leaking into the urine Diuretics ("water pills") to remove excess fluid NSAIDs, such as indomethacin, to reduce the amount of protein leaking into the urineFluids may be limited to help control swelling.The provider may recommend removing the kidneys to stop protein loss. This may be followed by dialysis or a kidney transplant.DialysisDialysis treats end-stage kidney disease also called kidney failure. It removes waste from your blood when your kidneys can no longer do their job. ...Read Article Now Book Mark Article Kidney transplantA kidney transplant is surgery to place a healthy kidney into a person with kidney failure.Read Article Now Book Mark Article Outlook (Prognosis) The disorder often leads to infection, malnutrition, and kidney failure. It can lead to death by age 5, and many children die within the first year. Congenital nephrotic syndrome may be controlled in some cases with early and aggressive treatment, including an early kidney transplant. Possible Complications Complications of this condition include:Acute kidney failure Blood clots Chronic kidney failure Chronic kidney failureChronic kidney disease is the slow loss of kidney function over time. The main job of the kidneys is to remove wastes and excess water from the body...Read Article Now Book Mark Article End-stage kidney disease End-stage kidney diseaseEnd-stage kidney disease (ESKD) is the last stage of long-term (chronic) kidney disease. This is when your kidneys can no longer support your body's...Read Article Now Book Mark Article Frequent, severe infections Malnutrition and related diseases When to Contact a Medical Professional Contact your provider if your child has symptoms of congenital nephrotic syndrome.Open ReferencesReferencesErkan E. Nephrotic syndrome. In: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Textbook of Pediatrics. 21st ed. Philadelphia, PA: Elsevier; 2020:chap 545.Schlöndorff J, Pollak MR. Inherited disorders of the glomerulus. In: Yu ASL, Chertow GM, Luyckx VA, Marsden PA, Skorecki K, Taal MW, eds. Brenner and Rector's The Kidney. 11th ed. Philadelphia, PA: Elsevier; 2020:chap 43.Vogt BA, Springel T. The kidney and urinary tract of the neonate. In: Martin RJ, Fanaroff AA, Walsh MC, eds. Fanaroff and Martin's Neonatal-Perinatal Medicine: Diseases of the Fetus and Infant. 11th ed. Philadelphia, PA: Elsevier; 2020:chap 93.AllVideoImagesTogRelated Information Urine protein dipstick test(Medical Test)Nephrotic syndrome(Condition)Protein in diet(Nutrition)Acute kidney failure(Condition)Antibody(Special Topic)Chronic kidney disease(Condition)End-stage kidney disease(Condition) Review Date: 8/28/2023 Reviewed By: Walead Latif, MD, Nephrologist and Clinical Associate Professor, Rutgers Medical School, Newark, NJ. Review provided by VeriMed Healthcare Network. Also reviewed by David C. Dugdale, MD, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team. The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. 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Congenital nephrotic syndromeNephrotic syndrome - congenitalCongenital nephrotic syndrome is a disorder that is passed down through families in which a baby develops protein in the urine and swelling of the body. Causes Congenital nephrotic syndrome is an autosomal recessive genetic disorder. This means that each parent must pass on a copy of the defective gene in order for the child to have the disease.Autosomal recessive geneticAutosomal recessive is one of several ways that a trait, disorder, or disease can be passed down through families. An autosomal recessive disorder me...Read Article Now Book Mark Article Although congenital means present from birth, with congenital nephrotic syndrome, symptoms of the disease occur in the first 3 months of life.Congenital nephrotic syndrome is a very rare form of nephrotic syndrome.Nephrotic syndrome is defined by a set of abnormal findings that include:Protein in the urine Low blood protein levels in the blood High cholesterol levels High triglyceride levels SwellingChildren with this disorder have an abnormal form of a protein called nephrin. The kidney's filters (glomeruli) need this protein to function normally. Symptoms Symptoms of nephrotic syndrome include:Cough CoughCoughing is an important way to keep your throat and airways clear. But too much coughing may mean you have a disease or disorder. Some coughs are d...Read Article Now Book Mark Article Decreased urine output Decreased urine outputDecreased urine output means that you produce less urine than normal. Most adults make at least 500 milliliters of urine in 24 hours (a little over ...Read Article Now Book Mark Article Foamy appearance of urine Low birth weight Low birth weightSmall for gestational age means that a fetus or an infant is smaller or less developed than normal for the baby's sex and gestational age. Gestation...Read Article Now Book Mark Article Poor appetite Poor appetiteA decreased appetite is when your desire to eat is reduced. The medical term for a loss of appetite is anorexia.Read Article Now Book Mark Article Swelling (total body)SwellingSwelling is the enlargement of organs, skin, or other body parts. It is caused by a buildup of fluid in the tissues. The extra fluid can lead to a ...Read Article Now Book Mark Article Exams and Tests An ultrasound done on the pregnant mother may show a larger-than-normal placenta. The placenta is the organ that develops during pregnancy to feed the growing baby.Pregnant mothers may have a screening test done during pregnancy to check for this condition. The test looks for higher-than-normal levels of alpha-fetoprotein in a sample of amniotic fluid. Genetic tests are then used to confirm the diagnosis if the screening test is positive.After birth, the infant will show signs of severe fluid retention and swelling. The health care provider will hear abnormal sounds when listening to the baby's heart and lungs with a stethoscope. Blood pressure may be high. There may be signs of malnutrition.A urinalysis reveals fat and large amounts of protein in the urine. Total protein in the blood may be low.UrinalysisUrinalysis is the physical, chemical, and microscopic examination of urine. It involves a number of tests to detect and measure various compounds th...Read Article Now Book Mark Article Total proteinThe total protein test measures the total amount of two classes of proteins found in the fluid portion of your blood. These are albumin and globulin...Read Article Now Book Mark Article Treatment Early and aggressive treatment is needed to control this disorder.Treatment may involve:Antibiotics to control infections Blood pressure medicines called angiotensin-converting enzyme (ACE) inhibitors and angiotensin receptor blockers (ARBs) to reduce the amount of protein leaking into the urine Diuretics ("water pills") to remove excess fluid NSAIDs, such as indomethacin, to reduce the amount of protein leaking into the urineFluids may be limited to help control swelling.The provider may recommend removing the kidneys to stop protein loss. This may be followed by dialysis or a kidney transplant.DialysisDialysis treats end-stage kidney disease also called kidney failure. It removes waste from your blood when your kidneys can no longer do their job. ...Read Article Now Book Mark Article Kidney transplantA kidney transplant is surgery to place a healthy kidney into a person with kidney failure.Read Article Now Book Mark Article Outlook (Prognosis) The disorder often leads to infection, malnutrition, and kidney failure. It can lead to death by age 5, and many children die within the first year. Congenital nephrotic syndrome may be controlled in some cases with early and aggressive treatment, including an early kidney transplant. Possible Complications Complications of this condition include:Acute kidney failure Blood clots Chronic kidney failure Chronic kidney failureChronic kidney disease is the slow loss of kidney function over time. The main job of the kidneys is to remove wastes and excess water from the body...Read Article Now Book Mark Article End-stage kidney disease End-stage kidney diseaseEnd-stage kidney disease (ESKD) is the last stage of long-term (chronic) kidney disease. This is when your kidneys can no longer support your body's...Read Article Now Book Mark Article Frequent, severe infections Malnutrition and related diseases When to Contact a Medical Professional Contact your provider if your child has symptoms of congenital nephrotic syndrome.Open ReferencesReferencesErkan E. Nephrotic syndrome. In: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Textbook of Pediatrics. 21st ed. Philadelphia, PA: Elsevier; 2020:chap 545.Schlöndorff J, Pollak MR. Inherited disorders of the glomerulus. In: Yu ASL, Chertow GM, Luyckx VA, Marsden PA, Skorecki K, Taal MW, eds. Brenner and Rector's The Kidney. 11th ed. Philadelphia, PA: Elsevier; 2020:chap 43.Vogt BA, Springel T. The kidney and urinary tract of the neonate. In: Martin RJ, Fanaroff AA, Walsh MC, eds. Fanaroff and Martin's Neonatal-Perinatal Medicine: Diseases of the Fetus and Infant. 11th ed. Philadelphia, PA: Elsevier; 2020:chap 93.