The genetics of steroid-resistant nephrotic syndrome in children
Guillaume Dorval, Aude Servais, Olivia Boyer
Abstract
Steroid-resistant nephrotic syndrome (SRNS) is caused by a defective expression of podocyte-specific proteins resulting from genetic defects in ∼30% of cases [1]. Identification of such genetic cause in children is of utmost importance for genetic counselling, to avoid ineffective and potentially harmful therapies [2] and to start early suitable treatment in rare instances such as ubiquinone Coenzyme Q10 (COQ10) deficiency and hopefully in the near future—to offer-specific variant-based therapies, to predict the recurrence risk after transplantation and to select potential intra-familial kidney donors. ... ... ... ... ... ... ... ... ... ... Isolated NS can also be caused by variants in genes usually associated with syndromic forms of NS such as WT1, INF2, LMX1B, COQ genes and MT-TL1.