Genetic mutations of podocyte proteins as underlying mechanism of glomerular diseases in pediatric and adult patients
Journal Title: Postępy Nauk Medycznych - Year 2013, Vol 26, Issue 2
Abstract
Podocyte differentiation and glomerulogenesis in fetal life is controlled by specific genes and any disturbance of this process may lead to further structural defects with clinical consequences. The genetic background of glomerular disease with predominating proteinuria is suspected mainly due to occurrence early in life and/or resistance to specific pharmacotherapy. The younger is the patient, the higher is risk of genetic background. Incidence of genetic background of steroid-resistant nephrotic syndrome was reported as 100% in newborns, 57% in infants, 36% in children, 25% in adolescents and 14% in adult patients. Long-term outcome might be related to specific type of mutation. Some cases do partially respond to long-term cyclosporine A therapy, while on treatment and some are resistant to any therapy. Bilateral nephrectomy and further renal transplantation is the most aggressive management of cases with severe Fin-major mutation of nephrin – related congenital nephrotic syndrome, seen in young children.
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Ryszard Grenda
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