Type 7 nephrotic syndrome ... (Nephrotic Syndrome, Type 7) - Gen DGKE.
Nephrotic syndrome type 7 (NPHS7) is an autosomal recessive renal disease characterized by the appearance of nephrotic syndrome with proteinuria, usually in the first decade of life, leading to complications such as hypoalbuminemia, hyperlipidemia and edema .. The disorder is progressive, and some patients develop ESRD. Renal biopsy typically shows proliferative glomerulonephritis membrane-.
The disease has an acute onset in the first year of life with microangiopathic hemolytic anemia, thrombocytopenia and renal failure. After the acute episode, most patients develop chronic renal failure. Renal biopsy in affected persons shows a glomerular injury-proliferative glomerulonephritis membrane (MPGN).
This process is due to mutations in the DGKE gene, located on the long arm of chromosome 17 (17q22), which controls the intracellular concentration of DAG, which is a component of the cycle of phosphatidylinositol involved in multiple cellular functions and intracellular signaling lipid mediated. Disruption of this pathway in podocytes may underlie the disorder.
Mutations in the gene cause a loss of function. The DGKE phosphorylates and inactivates protein diacylglycerol containing arachidonic acid (AA-DAG) to the corresponding phosphatidic acid. AA-DAG is important signaling molecule which activates protein kinase C (PKC). PKC, in turn, increases the production of various prothrombotic factors in endothelial cells. Therefore, the loss of function of the protein can alter DGKE sustained signaling AA-DAG, resulting in a hypercoagulable state. In addition, DAG modify the function of the membrane in podocytes, which gives rise to specific renal effects.
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 7, by complete PCR amplification of exons DGKE 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).