Type 9 nephrotic syndrome ... (Nephrotic Syndrome, Type 9) - Gen ADCK4.
Nephrotic syndrome type 9 (NPHS9) is an autosomal recessive disease characterized by chronic renal progressive renal failure, severe proteinuria, hypoalbuminemia, hyperlipidemia and edema. Renal biopsies show glomerulosclerosis focal segmental. Onset occurs in the first or second decade of life. Generally, the disease progresses to end - stage renal failure and renal transplantation requires.
This process is due to mutations in the gene ADCK4, located on the long arm of chromosome 19 (19q13.2), which encodes a protein with two copies of a domain which is found in protein kinases. The encoded protein has a complete domain of the protein kinase catalytic, and a truncated domain containing only the active binding and protein kinase domain locations. It is believed that the gene may play a role in CoQ10 biosynthesis (COQ10A and / or COQ10B), which is required for migration of podocytes.
Mutations in the gene cause CoQ10 deficiency and reduce the activity of mitochondrial respiratory enzyme as a result of loss of function of ADCK4. These changes cause disruption of projections podal podocytes, rarefaction of the filtration membranes, and disorganization of the glomerular basement membrane.
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 9 by complete PCR amplification of exons ADCK4 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).