Periorbital swelling is often the first sign of nephrotic syndrome due to the loss of proteins, particularly albumin, through the kidneys, leading to low serum albumin levels (hypoalbuminemia). This decrease in oncotic pressure causes fluid to leak into the interstitial spaces, particularly noticeable in areas like the face and around the eyes. Additionally, the kidneys' impaired function can lead to fluid retention, further contributing to swelling. As a result, periorbital edema frequently becomes one of the earliest visible indicators of this condition.
The first symptom of nephrotic syndrome is often foamy urine. As the syndrome progresses, swelling (edema ) is noticed in the eyelids, hands, feet, knees, scrotum, and abdomen. The patient feels increasingly weak and fatigued.
Diagnosis is based first on the laboratory examination of the urine and the blood. While the urine will reveal significant quantities of protein, the blood will reveal abnormally low amounts of circulating proteins. Blood tests will also reveal.
The brain swelling and increased intracranial pressure that can result is potentially fatal. More than 20 such cases have been reported since the syndrome was first described in 1984.
DefinitionCongenital nephrotic syndrome is disorder passed down through families in which a baby develops protein in the urine and swelling of the body. Congenital means it is present from birth.See also: Nephrotic syndromeAlternative NamesNephrotic syndrome - congenitalCauses, incidence, and risk factorsCongenital 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 inherited, which means it is passed down through families.Children with this disorder have an abnormal form of a protein called nephrin, which is found in the kidney.SymptomsCoughDecreased urine outputFoamy appearance of urineLow birth weightPoor appetiteSwelling (total body)Signs and testsAn ultrasound done on the pregnant mother before birth may show a larger-than-normal placenta. The placenta is the organ that develops during pregnancy to feed the developing 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 sample of amniotic fluid. Genetic tests should be used to confirm the diagnosis if the screening test is positive.After birth, the infant will show signs of severe fluid retention and generalized 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 urinalysisreveals large amounts of protein and the presence of fat in the urine. Total protein in the blood may be low.TreatmentEarly and aggressive treatment is needed to control the disorder.Treatment may involve:Antibiotics to control infectionsBlood pressure medicines called ACE inhibitorsDiuretics ("water pills") to eliminate excess fluidNonsteroidal anti-inflammatory drugs (NSAIDs) such as indomethacin to slow protein build up in the urineFluids may be restricted to help control swelling.Removal of the kidneys, dialysis, and kidney transplant may be recommended.Expectations (prognosis)The disorder commonly results in infection, malnutrition, and kidney failure. It can often lead to death by 5 years of age, and many children die within the first year. Congenital nephrotic syndrome may be successfully controlled in some cases with early and aggressive treatment, including early kidney transplantation.ComplicationsAcute kidney failureBlood clotsChronic kidney failureEnd-stage kidney diseaseFrequent, severe infectionsMalnutrition and related diseasesCalling your health care providerCall your health care provider if your child has symptoms of congenital nephrotic syndrome.ReferencesNephrotic Syndrome. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, eds. Nelson Textbook of Pediatrics. 18th ed. Philadelphia, Pa: Saunders Elsevier; 2007:chap. 527.
Patau syndrome was first described by Dr. Klaus Patau in 1960.
Shaken baby syndrome was first described in medical literature in 1972
Jacob's Syndrome, or XYY Syndrome was first discovered by cytogeneticists Joe Hin Tjio and Albert Levan.
drugs such as cortisone or cytotoxic drugs (those that are destructive to certain cells or antigens). Diuretics may be prescribed to increase urination. If high blood pressure is present, drugs may be prescribed
In 1866, Doctor John Langdon Down first described Down's syndrome.
Turner Syndrome occurs when a female has only one X chromosome. One of the first signs of Turner is short stature which becomes apparent at about age 5. Most Turner Syndrome women do not go through puberty unless given hormone therapy. They can have obvious skeletal deformities, a lower than normal hairline on the back of their necks, swelling of the hands and feet and additional folds on their necks.
A French neurologist , Jean Marc Itard, described the first known case of Tourette syndrome in the 1825
A French neurologist , Jean Marc Itard, described the first known case of Tourette syndrome in the 1825