Nephrotic type 10 syndrome ..., - EMP2 gene
Nephrotic syndrome type 10 (NPHS10) is a renal disease characterized by the onset during childhood proteinuria, hypoalbuminemia, hyperlipidemia and edema. In general, the disease progresses to end - stage renal failure.
Signs and symptoms of the disease begin in early childhood, usually before 3 years.
This process is due to homozygous mutations or heterozygous in EMP2 gene, located on the short arm of chromosome 16 (16p13), necessary for kidney integrity. The gene is expressed in the arches, orbits the vessels, pronephric renal tubules and glomeruli. The gene regulates the amount of caveolin-1,13 and 15 that is the primary structural component of caveolae, which contribute to many cellular functions, including endocytosis, transcytosis cell signaling and cholesterol and albumin.
Mutations in the gene cause EMP2 nephrotic syndrome type 10 cause an alteration in the amount of caveolin-1 (CAV1) and decreased cell proliferation. Mutations cause altered glomerular filtration barrier.
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 type 10 nephrotic syndrome, by complete PCR amplification of exons EMP2 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).