Congenital nephrotic syndrome

Congenital nephrotic syndrome is a rare kidney disease which manifests in infants during the first 3 months of life, and is characterized by high levels of protein in the urine (proteinuria), low levels of protein in the blood, and swelling. This disease is primarily caused by genetic mutations which result in damage to components of the glomerular filtration barrier and allow for leakage of plasma proteins into the urinary space. Urine protein loss leads to total body swelling (generalized edema) and abdominal distension in the first several weeks to months of life. Fluid retention may lead to cough (from pulmonary edema), ascites, and widened cranial sutures and fontanelles. High urine protein loss can lead to foamy appearance of urine. Infants may be born prematurely with low birth weight, and have meconium stained amniotic fluid or a large placenta. Frequent, severe infections: urinary loss of immunoglobulins Malnutrition and poor growth Blood clots (hypercoagulability): imbalance of plasma coagulation factors from urine protein loss Hypothyroidism: urinary loss of thyroid-binding protein Poor bone health associated with vitamin D deficiency: urinary loss of vitamin D binding protein Acute kidney injury Chronic kidney disease and ultimately end-stage kidney disease Mutations in the following five genes account for greater than 80% of the genetic causes of congenital nephrotic syndrome: NPHS1 (Finnish Type): The gene NPHS1 encodes for the protein nephrin. This genetic variant is characterized by severe protein loss in the first several days to weeks of life. Fin-major and Fin-minor were the first two main genetic mutations identified in Finnish newborns, however, numerous mutations have now been identified in patients all over the world from various ethnic groups. NPHS1 mutations are the most common cause of primary congenital nephrotic syndrome, accounting for 40-80% of cases. NPHS2: This gene encodes for the protein podocin. Patients with this genetic mutation develop nephrotic syndrome in the first few weeks of infancy, but can also manifest symptoms later in life.

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Related concepts (3)

Edema

Edema, also spelled oedema, and also known as fluid retention, dropsy, hydropsy and swelling, is the build-up of fluid in the body's tissue. Most commonly, the legs or arms are affected. Symptoms may include skin which feels tight, the area may feel heavy, and joint stiffness. Other symptoms depend on the underlying cause. Causes may include venous insufficiency, heart failure, kidney problems, low protein levels, liver problems, deep vein thrombosis, infections, angioedema, certain medications, and lymphedema.

Kidney

In humans, the kidneys are two reddish-brown bean-shaped blood-filtering organs that are a multilobar multipapillary form of mammalian kidney, usually without signs of external lobulation. They are located on the left and right in the retroperitoneal space, and in adult humans are about in length. They receive blood from the paired renal arteries; blood exits into the paired renal veins. Each kidney is attached to a ureter, a tube that carries excreted urine to the bladder.