Nephrotic type 5, with or without ocular abnormalities syndrome ... (Nephrotic syndrome, Type 5, with or without ocular abnormalities) - Gen LAMB2.
Nephrotic syndrome type 5 is an autosomal recessive disease characterized by a very early onset of progressive renal failure.
It manifests as proteinuria with edema consecutive start intrauterine fetal period or during the first 3 months of life. A subset of patients can develop mild ocular abnormalities, such as myopia, strabismus and nystagmus. Other signs and symptoms of the disease include focal segmental glomerulosclerosis with abnormalities of the glomerular basement membrane. A subset of patients can develop mild ocular abnormalities, such as myopia, strabismus and nystagmus.
This process is due to mutations in the gene LAMB2, located on the short arm of chromosome 3 (3p21), encoding the laminin B2, a component of the glomerular basement membrane and other basement membranes. B2 laminin is essential for the structure and stability of baseline projections podocyte, which are also found in other organs, such as in some (crystalline capsule, intraocular muscles, retina) eye structures, in arterial basement membranes perineural synaptic and even in certain regions of the brain and neuromuscular junction. Laminin is believed to intervene at the joint, migration and organization of cells into tissues during embryonic development by interacting with other components of the extracellular matrix.
Have identified different mutations in the gene LAMB2 cause of nephrotic syndrome type 5. While some mutations are predictive of complete loss of function of laminin B2, others cause a less severe spectrum, so it has been proposed that phenotypical alterations associated mutations LAMB2 is broader than previously thought and milder, non - lethal forms may be associated with mutations that retain some residual function. These changes are responsible for kidney and eye abnormalities
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 5, by complete PCR amplification of the exons of the gene LAMB2 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).