Nephrotic type 2 syndrome - NPHS2 gene.
Nephrotic syndrome type 2, is an autosomal recessive disease characterized clinically by the appearance during childhood proteinuria, hypoalbuminemia, hyperlipidemia and edema.
Signs and symptoms of disease appear in early childhood, most often between 3 and 5 years old, but may appear in adulthood. Renal biopsies show unspecific histological changes such as focal segmental glomerulosclerosis, mesangial diffuse proliferation. The disease progresses to ESRD in the first or second decade of life. Some patients have late onset of the disease.
This process is due to mutations in the gene NPHS2, located on the long arm of chromosome 1 (1q25.2), encoding the protein Pociña, representing a component essence of glomerular filtration membrane, therefore plays a role in the regulation of glomerular permeability, probably acting as a bridge between the plasma membrane and cytoskeleton.
They have been described over 30 mutations in the gene NPHS2, causing nephrotic syndrome type 2. Most are found in the region encoding the C-terminal domain of the protein. Some polymorphisms modify gene expression podocin and seems that may be associated with various glomerular diseases (glomerulonephritis IgA, FSGS) and its evolution.
This disease is inherited in an autosomal recessive pattern, that is, both copies of the gene in every cell must have mutations for alteration is expressed. The parents of an individual with an autosomal recessive disease have a copy of the mutated gene, but usually show no signs and symptoms of the disease.
Tests in IVAMI: in IVAMI perform detection of mutations associated with nephrotic syndrome type 2, by complete PCR amplification of exons NPHS2 gene, and subsequent sequencing.
Samples recommended: EDTA blood collected for separation of blood leukocytes, or impregnated sample card with dried blood (IVAMI may mail the card to deposit the blood sample).