Revista Cubana de Pediatría
versión On-line ISSN 1561-3119
DURAN ALVAREZ, Sandalio. Congenital and heritable nephrotic syndromes. Rev Cubana Pediatr [online]. 2011, vol.83, n.1, pp. 87-102. ISSN 1561-3119.
In past years many familial and sporadic nephrotic syndromes refractory to usual treatments (steroids and immunosuppressives), evolve quickly to a chronic renal failure produced by genetic mutations. Most of nephrotic syndromes genetically transmitted and that may be congenital, present in the first year of life or in the older child, are attributable to NPHS1, NPHS2, WT1 and KLAMB2 gen mutations. Other nephrotic syndromes produced by genetic mutations may not appear until adulthood. The main objective of present review was to alert on the nephrotic syndromes produced by genetic mutations without response to immunosuppressive treatments, but on those in which such treatment may be dangerous for patient.
Palabras llave : Congenital nephrotic syndrome; cortico-resistant nephrotic syndrome; genetic mutations; NPHS1; NPHS2; WT1; LAMB2.